Paeds - General Flashcards

Question

Biliary atresia ddx

Answer 1

* Extrahepatic biliary obstruction (e.g. choledochal cyst, spontaneous perforation of CBD, vile duct stricture/tumour, neonatal sclerosing cholangitis) * Hepatic viral infections (e.g. CMV, enterovirus, HSV, adenovirus, HBV, HIV, rubella, parvovirus B18, EBV) * Alpha-1 antitrypsin deficiency (Fhx of lung disease at an early age) * CF * Hypothyroidism – predominantly unconjugated hyperbilirubinemia * Galactosaemia * Mitochondrial disorders * Peroxisomal disorders – craniofacial + neurological abnormalities in association with jaundice * Toxic causes – drugs, TPN, endotoxin from gram -ve bacteria * Sepsis • Ischaemia-reperfusion injury o Typically occurs after an infant has been profoundly ill * Inpissated bile – In CF or after significant haemolysis * CHD

Answer 2

o Atresia – a complete blockage (obstruction) or lack of continuity of the bowel o Stenosis – a partial obstruction that results in narrowing or stricture of the bowel

Answer 3

Duodenal atresia 30% DS 30% CHD Jejunoileal atresia 10% CF

Answer 4

``` Complications • Polyhydramnios o  risk of PTL • Mechanical bowel problems • Feeding + absorption difficulties – refer to paediatric dietician ``` Prognosis • Excellent long-term outcomes

Answer 5

* Malrotation with midgut volvulus (proximal obstruction) * Meconium ileus (distal ileal obstruction) * Long-segment Hirschsprung disease (associated with colonic ateresia)

Answer 6

``` • Spastic o 70% o UMN lesion o Tight/stiff muscles o Hypertonia o Jerky movement o Scissor gait o Toe walk ``` ``` • Athetoid (dyskinetic) o Injury to basal ganglia o Involuntary movements o Dystonia – random, slow, uncontrolled, movements in limbs/trunk o Chorea – random, dance like movements ``` ``` • Ataxic o Damage to cerebellum o Shaky or uncoordinated o Clumsy o Poor balance ```

Answer 7

* Non-progressive neurodevelopmental disorders | * Group of permanent movement and posture disorders that limit activity

Answer 8

o Prematurity o Multiple gestation o Maternal infection e.g. chorioamnionitis

Answer 9

o Multiple gestation o Maternal illness – can affect the developing brain  Chorioamnionitis and/or fever  Maternal respiratory tract or genito-urinary infection treated in hospital  TORCH  Maternal thyroid disease o Maternal teratogen exposure  Indirect RF  Exposure to teratogens (alcohol, cigarettes, antenatal XR, warfarin) – rf for prematurity + LBW o Maternal thrombotic disorders Inc. Factor V Leiden mutations – can lead to neonatal emboli from placental thrombosis o Fetal brain malformation o Fetal genetic and metabolic disorders o Placental abruption

Answer 10

o Prematurity o LBW o Respiratory distress o Fetal birth asphyxia – birth trauma, placental abruption, uterine rupture, prolonged labour, instrumental delivery o Multiple births o Intraventricular haemorrhage o Neonatal encephalopathy o Neonatal complications  Severe hyperbilirubinemia – damage to basal ganglia – dyskinesia  Severe periventricular haemorrhage  Neonatal sepsis (particularly if BW <1.5kg) • Peri-natal hypoxic-ischaemic injury

Answer 11

• Postnatal (10%) o Head injuries prior to 3 years o Meningitis • Familial metabolic/genetic disorder

Answer 12

* Feeding + swallowing difficulties – 50% - can lead to poor growth * Speech impairment – 30% * Communication difficulties – 50% * Sialorrhoea (drooling) – may be affected by positioning/medication/history/reflux/dental issues • Low bone mineral density (osteopenia, osteoporosis)– esp. if o Non-ambulant (GMFCS level IV or V) o Vit D deficiency o Eating/drinking/swallowing difficulties or concerns about nutritional status o LQ for age (<2nd centile) o Hx of low-impact # o Use of anti-convulsant medication • Secondary MSK problems • Intellectual disability o LD (IQ <70) – around 50% of children w CP o Severe LD (IQ <50) – around 25% of children w CP * Pain * Sleep disturbance • Behavioural + mental health problems o Behavioural difficulties (problems w behaviour/ peer relationships/ attention/ concentration/ hyperactivity/conduct) – 30% * Epilepsy – 30% * Neurogenic bladder – Urinary incontinence * Chronic constipation – 60% * GORD * Variable sensory/proprioceptive loss • Additional disturbances of sensation/perception/cognition/communication/behaviour o Visual impairment – around 50% of children w CP (strabismus, refractive errors, problems of eye function, retinopathy of prematurity, impaired cerebral visual information processing, visual field defects) o Hearing impairment – around 10% of children w CP

Answer 13

* Permanent condition * Underlying brain lesion is non-progressive * Functional and neurological manifestations evolve over time • Walking o The more severe the child’s physical/functional/cognitive impairment, the greater the possibility of difficulties with walking o If a child can  Sit by 2– likely that they will be able to walk unaided by 6  Cannot sit but can roll at 2 – possibility that they may be able to walk unaided by 6  Cannot sit or roll at 2 – unlikely to be able to walk unaided • Speech development o 50% have some difficulty with elements of communication o 33% have specific difficulties w speech + language o 10% need augmentative + alternative communication (signs, symbols, speech generating devices) • Increased prevalence of o Mental health + psychological problems incl. depression, anxiety, conduct disorders o Neurodevelopmental disorders incl. ASD, ADHD • Reduced QOL • Reduced Life expectancy o The more severe the child’s physical/functional/cognitive impairment, the greater the likelihood of reduced life expectancy

Answer 14

• Spinal muscular atrophy o No spasticity o Pt may develop contractures o Floppy at birth + exhibits progressive weakness ``` • Muscular dystrophy/myopathy o No spasticity o Pt may develop contractures o Normal development until 3 years of age followed by progressive loss of function + muscle weakness o Positive FHx ``` • Spinal stenosis/tethered cord o Non-spastic o Progressively worsening neurological function • Familial/primary dystonia o Onset of muscular deformity after several years of normal development o Sustained periods of muscle contraction + dystonia o No development of contractures o Abrupt + violent movements o Positive FHx • Familial (hereditary) spastic paraparesis o FHx o Progressive disease • Myelodysplasia o Associated spinal defect o Lack of sensation below specific spinal segment o Usually non-spastic • Brain tumour o Acute presentation – headache,  ICP (early morning vomiting), seizures, focal neurological deficit following initial normal development

Answer 15

• Clear o Normal skin o No evidence of active atopic eczema o Emollients should still be used • Mild o Areas of dry skin o Infrequent itching (+/- small areas of redness) • Moderate o Areas of dry skin o Frequent itching o Redness (+/- excoriation + localised skin thickening) • Severe o Widespread areas of dry skin o Incessant itching o Redness (+/- excoriation, extensive skin thickening, bleeding, oozing, cracking, alteration of pigmentation)

Answer 16

• Should be diagnosed when a child has an itchy skin condition + >3 of o Visible flexural dermatitis involving skin creases (bends of elbows, behind knees) or visible dermatitis on cheeks +/or extensor areas in children <18m o PHx of flexural dermatitis or dermatitis on cheeks +/or extensor areas in children <18m o PHx of dry skin in the last 12 months o PHx of asthma or allergic rhinitis (or hx of atopic disease in first-degree relative of children <4) o Onset of signs + symptoms <2 y/o (should not be used in children aged <4 years)

Answer 17

``` • Trigger factors o Irritants e.g. soaps, detergents (incl. shampoos, bubble baths, shower gels, washing-up liquids) o Skin infections o Contact allergens o Food allergens o Inhalant allergens ``` • Unclear trigger factors that should be avoided where possible o Stress o Humidity o Extremes of temperature

Answer 18

• Condition improves with time but not all children will grow out of atopic eczema + it may get worse in teenage/adult life o Many cases of atopic eczema clear or improve during childhood – others, can persist into adulthood * Flares may occur as frequently as 2-3 per month * Some children who have atopic eczema will go on to develop asthma or allergic rhinitis = atopic march

Answer 19

* Psoriasis — less itchy, well-circumscribed, reddish, flat-topped plaques with silvery scales; typically symmetrical. * Allergic contact dermatitis — eczematous rash, at any site related to a topical allergen, in a person of any age. Can be both an alternative diagnosis and a trigger factor of atopic eczema * Seborrhoeic dermatitis — red, sharply marginated lesions with greasy scales; usually confined to areas with sebaceous gland activity (for example ears, beard area, eyebrows, scalp, and nasolabial folds) * Fungal infection — annular patch or plaque with slightly raised, sometimes scaly, border, and central clearing * Scabies or other infestations — should be suspected when there is recent onset of an itchy rash in a family • Ddx for eczema herpeticum o Impetigo o Hand, foot, mouth disease

Answer 20

• Boys do not produce functional dystrophin protein (DMD), abnormal/partially functional dystrophin (BDM) weakness of skeletal, respiratory, heart muscles  shortened life span X-linked

Answer 21

• Respiratory failure o Most common cause of morbidity + mortality * Loss of mobility * Weight loss/malnutrition * Sexual dysfunction • Cardiac complications o Cardiomyopathy + CHF o Atrial + ventricular arrhythmias o Dilated cardiomyopathy is common • Smooth muscle affected o GI symptoms e.g. gastric dilation, pseudo-obstruction • Hypersomnolence + morning headaches – due to nocturnal hypoventilation • Learning difficulty o Non progressive o May affect verbal ability more than other performance ``` • Late complications of daily CS use o Osteoporosis o Vertebral compression fractures o Failure of boys to enter puberty o Obesity o HTN ``` • Anaesthetic complications o Myoglobinuria o Rhabdomyolysis o Malignant hyeperthermia

Answer 22

DMD • Progressive muscle weakness o Hand muscles spared until late on o Extraocular muscle function preserved • 10-40% of patients survive to age 40 in centres that use non-invasive means of respiratory support • Most patients o Lose the ability to walk by 12 years of age o Require ventilatory support by 25 years of age • Average life expectancy – 27 years – respiratory or cardiac complications

Answer 23

BMD • Reduced life-expectancy (middle to old age) • 50% deaths due to cardiomyopathy

Answer 24

• BMD • Limb-girdle muscular dystrophies o CK levels usually lower • Emery-Dreifuss muscular dystrophy • Polymyositis o 4-7 y/o o Muscle contractures + weakness can become as severe as in DMD o Muscle weakness usually occurs in the proximal muscles – esp. those of the shoulder + pelvic girdle o Muscle biopsy – inflammation, mononuclear invasion of non- necrotic muscle, CD8+ cytotoxic/suppressor T cells, macrophages, absence of perifascicular atrophy of dermatomyositis • Static encephalopathies (cerebral palsy) o Children affected asymmetrically o Clinical dx  CNS involvement  Spasticity (not seen in neuromuscular diseases)  Cognitive/motor/sensory involvement o DMD – hypotonic, symmetrically affected • Neurological causes of muscle weakness – spinal cord lesions, spinal muscular atrophy, MND, MS

Answer 25

Ix DMD in any boy who • Is not walking by 18m • Has delayed motor milestones or global developmental delay

Answer 26

``` Infantile spasms • Epilepsy syndrome • Diagnostic triad – west syndrome o Flexor, extensor, mixed spasms o Developmental plateau or regression o Hypsarrhythmia or modified hypsarrhythmia on EEG ``` • Age of onset = 1 month – 1 year o Median age – 3-5 months

Answer 27

• Brain malformation o Particularly lissencephaly • Neurocutaneous syndrome o Tuberous sclerosis * AN or perinatal vascular event – stroke, preterm intraventricular haemorrhage, hypoxic-ischaemic encephalopathy, birth hypoxia, traumatic brain injury * Intrauterine or perinatal infections – HSV, CMV, toxoplasmosis, HIV * Inherited metabolic disorders * Genetic disorders e.g. T2, genes CDKL5, ARX * Brain tumours – astrocytoma, ganglioglioma

Answer 28

• Adverse effects of hormonal therapy o HTN, hyperglycaemia, increased susceptibility to infections (particularly VZV), increased appetite, wight gain, irritability, gastric irritation, altered sleep-wake pattern • SE of vigabatrin o Lethargy, irritability, sleeping + feeding difficulties, constipation, hypotonia, vigabatrin-associated visual defects (irreversible)

Answer 29

• 5-30% mortality • Poor prognosis  Loss of skills  Learning disabilities  Continuing epilepsy • Survivors o 80-90% developmental delay – may precede or follow onset of seizures o 50-70% other seizure types  Lennox-Gastaut syndrome – predominance of tonic + atonic seizures + atypical absence seizures, psychomotor retardation  Focal seizures with impaired awareness * Reduced life expectancy – depends on aetiology of infantile spasms * Rapid identification + treatment of the spasms improves prognosis ``` • Poor prognostic factors o Ealy age of onset (<3m) o Structural brain abnormalities o Presence of pre-existing neurological impairment or developmental delay, Seizure types occurring before onset of spasms o Co-occurrence of other seizure types o Lack of response to ACTH therapy ``` • Favourable prognostic factors o No apparent aetiology o Age at onset > 4 m o Absence of atypical spasms and focal seizures o Absence of asymmetrical electroencephalogram abnormalities o Prompt treatment and an early and sustained response to treatment o Normal psychomotor development before the onset of spasms

Answer 30

• Dravet syndrome – Severe myoclonic epilepsy of infancy o Prolonged, repeated febrile + afebrile generalised or unilateral convulsive seizures o Interictal myoclonus and ataxia o Nocturnal generalised tonic-clonic seizure o Mild to severe intellectual disability • GORD o Reflux may mimic seizures o Normal EEG + development • Benign… o …Familial infantile seizures  Normal psychomotor development  Seizures resolve within the first year of life  Normal inter-ictal EEG, diffuse discharge with onset in central occipital region in ictal EEG ``` o … Neonatal sleep myoclonus  Non-epileptic condition  Myoclonic jerks during sleep stop abruptly when child is aroused  Resolves by 1 year of life  Normal EEG ``` o … myoclonus of early infancy  Similar symptoms  Normal EEG  Normal development – no mental and psychomotor involvement

Answer 31

• Most cases are due to an enteric virus o Rotavirus – most common cause of viral gastroenteritis in children o Norovirus – prevalence during colder months o Adenoviruses • Some are caused by bacterial or protozoal infections o Bacteria  Campylobacter jejuni, Cambylobacter coli  E. coli  Salmonellosis – red white meats, raw eggs, milk, dairy products  Shigella  Yersinia o Parasites  Cryptosporidosis  Amoebiasis  Giardia • Faeco-oral, foodborne, environmental, airborne transmission • Food poisoning o Primarily caused by enterotoxins produced by the microorganism

Answer 32

* Contact with infected person * Contaminated water or food – Exposure to known source of enteric infection * Recent travel abroad

Answer 33

o D – 5-7d, in most it stops within 2w | o V – 1-2d, in most it stops within 3d

Answer 34

Notifiable disease - notify the local health protection team by completing a notification form if gastroenteritis caused by • Food poisoning (such as suspected Bacillus cereus, Campylobacter spp., Clostridium perfringens, Cryptosporidium spp., Entamoeba histolytica, verocytotoxigenic Escherichia coli [including E. coli O157:H7], Salmonella spp., Giardia lamblia, and Yersinia pestis), including suspected clusters or outbreaks. • Haemolytic uraemic syndrome. • Infectious bloody diarrhoea, such as Shigella spp. • Enteric fever (typhoid or paratyphoid fever). • Cholera.

Answer 35

``` CI to use of oral rehydration therapy* • Protracted vomiting • Impaired consciousness • Paralytic ileus • Monosaccharide malabsorption ```

Answer 36

``` • At increased risk of dehydration o <1y, particularly <6m o LBW o >5 D stools in the previous 24h o >2 V in the previous 24h ``` o Children who have not been offered/have not been able to tolerate supplementary fluids before presentation o Infants who have stopped BF during the illness o Children with signs of malnutrition

Answer 37

• Volume depletion/ dehydration o Severe diarrhoea can cause dehydration which may be life-threatening • Electrolyte imbalance o Dehydration can be hyponatraemia, isonatraemic, hypernatraemia o Hyponatraemia – if plain water, carbonated drinks, fruit juices are used solely in the oral rehydration process or hypotonic saline used for IV rehydration o Hypokalaemia – loss of K+ in urine, increase in aldosterone in an attempt to conserve sodium – most common occurrence in severe dehydration * Metabolic acidosis – fecal loss of bicarbonate, renal excretion of H+ * Hypoglycaemia * HUS – haemolytic uraemic syndrome in children with Shiga-toxin producing E. coli infection • NG o Trauma to nose, oesophagus, stomach o Aspiration ``` • IV o Interstitial infiltration o Fluid at cannula site o Pain o Bleeding o Phlebitis o Seizures ```

Answer 38

• Illness usually resolves without treatment within days o D – 5-7d, in most it stops within 2w o V – 1-2d, in most it stops within 3d • Most children can be safely managed at home

Answer 39

* Spectrum of conditions affecting the proximal femur and acetabulum * Range from acetabular immaturity with a stable hip, to neonatal hip instability, established hip dysplasia +/- later subluxation and frank hip dislocation * True DDH = femoral head has a persistently abnormal anatomical relationship with the pelvic acetabulum  abnormal bony development that can ultimately result in premature arthritis + significant disability * Transient dysplasia = acetabular immaturity – relationship stabilises and normalises over a period of weeks to months * F>M * Affects 1-3% of newborns * 20% of cases bilateral * L hip dislocated more often than R

Answer 40

* The hip is a ball and socket joint that is not fully developed at birth * Much of the development of the hip joint occurs in utero and within the first several months of life * Normal development of the hip joint requires appropriate alignment and contact between the ball of the femoral head and the socket of the acetabulum * In persistent DDH, the anatomical relationship between the femoral head and the acetabulum is incorrect, leading to abnormal development

Answer 41

``` • Breech presentation • FHx • Restricted intrauterine space o First pregnancy o Oligohydramnios o Macrosomia o Multiple gestation ``` - Feet first - Female - Fluid (oligohydramnios) - Fatty (>5kgs) - First born with Family history - Foot deformity (calcaneovalgus deformity)

Answer 42

• Nerve palsy o Might occur secondary to suboptimal positioning within the brace, forced abduction and/or excessive flexion o Most common nerve palsy seen with the use of a Pavlik harness – femoral nerve palsy – loss of active knee extension – nerve palsies usually recover • Pavlik harness disease o Extended use of Pavlik harness (>3-4w) – worsening of posterolateral acetabular erosion and dysplasia • AVN o Also called proximal femoral growth disturbance – caused by excessive pressure on the femoral head + compression of the extrinsic blood supply of the femoral epiphysis o Can occur with any of the treatment methods used for DDH o AVN with Pavlik harness – from 0-7% o AVN with surgery - 5-15% o Poor prognostic factor • Surgical complication o Re-dislocation o Stiffness o Blood loss • Subsequent surgery o Surgery needed by almost 6% of infants treated with abduction splinting o Residual acetabular dysplasia after closed/open treatment of hip instability • Long-term complications o Premature degenerative joint disease o Low back pain • Untreated unilateral hip dislocation o Limb length inequality – may cause gait alteration and low back and/or knee pain o Knee valgus o Back pain

Answer 43

• Factors associated with poorer prognosis o Age at time of intervention – remodelling potential is more reliable in younger children + within the first 12-18 months after reduction is achieved – remodelling potential remains but is likely reduced during the subsequent years of growth o High dislocation o Residual subluxation o Evidence of AVN o Osteonecrosis o Re-dislocation * Important cause of childhood disability * Accounts for up to 9% of all primary hip replacements – 29% of those in people <60

Answer 44

* Acetabular immaturity – repeat US over several weeks to differentiate from DDH * Residual effects of septic arthritis – acute presentation w symptoms of septic arthritis * Fracture of femoral neck – uncommon in infancy

Answer 45

• Disease of the femoral head, comprising of necrosis, collapse, repair, re-modelling Osteochondritis * The essential lesion is loss of blood supply (avascular necrosis) of the nucleus of the proximal femoral epiphysis  abnormal growth of the epiphysis  eventual remodelling of regenerated bone * Single or multiple vascular events causing femoral head infarct, followed by re-vascularisation * Can be arterial or venous

Answer 46

• Presents in the first decade of life • Age 4-8 o Mean age = 7 y/o o Can affect children between 2-12 years of age • Bilateral in 15% • M>F • Disease appears very uncommon in black people

Answer 47

• Stiffness and loss of rotation o Maintaining hip mobility throughout the disease process helps prevent this complication • Osteoarthritis o Severe deformity of the femoral head – early arthritis • Limb length inequality o Damage to the blood supply of the proximal femoral epiphysis may lead to its premature closure • Hinged abduction – occurs when an enlarged femoral head is pushed laterally + it impinges on the acetabular rim when the hip is abducted • Residual deformities o Coxa magna – broadening of the head + neck of the femur o Coxa plana – osteochondritis of the femoral head o Coxa breva – structural shortening of the neck of femur

Answer 48

* Most children have good outcomes * In later life, it can lead to a painful + poorly functioning hip * At least 50% of involved hips do well without treatment * >50% of patients with Perthes’ disease will develop signs of osteoarthritis between their 4th and 5th decades – might require hip replacement o For patients who are <6 outcome is good regardless of treatment • Prognostic factors o Age o Limitation of movement o Radiologically visible involvement of the femoral head o Lateralisation of the femoral head in the acetabulum (subluxation) o Lateral epiphyseal calcification o Metaphyseal cyst formation

Answer 49

• Most likely dx for an acute limp in a child aged 3-10 years o Transient synovitis of the hip o Fracture or soft tissue injury (incl. stress fracture or NAI) • Bilateral Perthes’ disease o Hypothyroidism o Multiple epiphyseal dysplasia (Meyer’s disease)  Bilateral epiphyseal dysplasia with both hips at the same stage with the same degree of involvement  Bilateral Perthes’ disease is more likely to be sequential than simultaneous o Spondyloepiphyseal dysplasia tarda  Bilateral Perthes’ disease with spine involvement  Spine involvement = platyspondyly – flattened vertebral body shape with reduced distance between end plates o Sickle cell disease  Acute abdominal pain  Systemic symptoms ``` • Unilateral Perthes’ disease o Septic arthritis o Sickle cell disease o Spondyloepiphyseal dysplasia tarda o Gaucher’s disease o Eosinophilic granuloma o Transient synovitis • Juvenile idiopathic arthritis o Rh factor +ve o Systemic symptoms ```

Answer 50

• Overuse syndrome, affects the knees • Usually unilateral o Affects both knees in 20-30% of people • Inflammation of the patellar ligament where it inserts on the tibial tuberosity o When the tuberosity hasn’t ossified yet (adolescents) not strong enough to resist traction of the ligament  excessive strain of patellar ligament  inflammation of the ligament = traction apophysitis o Excessive traction  ossification centre can crack  callus formation  Healing + regrowth of the avulsed fragments – minimal to marked firm enlargement of the tibial tubercle • Results in traction apophysitis of the tibial tubercle o Apophysis = bony prominence that serves as a site for tendon attachment o Apophysitis = inflammation or stress injury to the areas on or around growth plates in children and adolescents

Answer 51

• Athletic participation in sports that involve repeated knee flexion + forced extension – running, jumping, squatting, deep knee bending, track, rugby, basketball, baseball, football • History of OSD in contralateral knee • Biomechanical RF o Quadriceps muscle tightness o Reduced flexibility of hamstring muscles

Answer 52

* Typically affects young athletes during their adolescent growth spurt * Boys 12-15 y/o, girls 8-12 y/o * Affects about 1 in 10 adolescents + up to 1 in 5 adolescents who participate in sport involving high impact activities e.g. running, jumping * M>F

Answer 53

* Symptoms typically settle over weeks or months * Occasionally may persist for 1-2 years before resolving completely in 90% of people * Resolution when patients reach skeletal maturity – complete recovery expected when the tibial growth plate closes around 14-18 years of age * Up to 60% may have longer-term pain + reduced function * Up to 10% of patients may experience pain as adults * Persistent Osgood-Schlatter disease has been associated with chronic pain, reduced ability to participate in sports, decreased lower body strength, lower QOL * Excellent relief of symptoms can be expected after surgical treatment of refractory cases

Answer 54

• Tumour o Severe, persists at night or at rest, may be associated with bone or joint pain at other sites o FLAWS o Osteoid osteoma– pain at rest + with activity, night time pain o Osteosarcoma – pain at rest + with activity, systemic symptoms • Trauma o Patellar stress fracture – pt may report a sensation of crack or pop with activities, variable ability to bear weight o Fracture of the tibial tubercle – Acute, trauma, unable to actively extend knee, unable to bear weight o Patellar tendonitis o Infrapatellar bursitis – pain at or near patellar insertion, no tenderness over tibial tubercle o Meniscal injuries o Collateral and cruciate ligament injuries • Infection o Osteomyelitis – pain at rest + with activity, systemic symptoms o Septic arthritis • Inflammatory arthritis o Juvenile idiopathic arthritis – affects knee joint alone or multiple joint – joint pain, swelling, morning stiffness • Referred pain from the hip o Slipped capital femoral epiphysis o Transient synovitis o Perthes disease • Other causes o Osteochondritis dissecans of the knee – anterior/anteromedial knee pain, intermittent knee swelling, mechanical symptoms, hx of minor trauma or atraumatic, absence of tenderness at the tibial tubercle o Patellar dislocation or subluxation, patellofemoral pain syndrome, chondromalacia pattelae

Answer 55

* Acute viral illness * Also known as enteroviral vesicular stomatitis Aetiology • Coxsackie virus o Coxsackie A16 is the most common cause o Coxsackie A6 – atypical HMFD – more widespread + extensive skin disease, nail shedding and higher risk for adult infection • Incubation period is 3-7 days • Mucocutaneous lesions appear 1-2 days after the prodromal period – last approx. 7-10 days with spontaneous resolution

Answer 56

* Immunosuppression * Children <10 * Family/school contacts with infection • Spread by o Direct contact with the nasal + throat secretions of an infected person o Direct contact with fluid from the blisters o Faeco-oral transmission * Transmitted immediately before and during the acute stage of the illness * Faecal shedding can persist for approx. 4-8 weeks after the onset of the illness * Vertical spread from mother to fetus

Answer 57

• Dehydration – oral pain causing reduced fluid intake • Secondary bacterial infection o Patients with localised or diffuse spreading skin erythema and/or persistent fever should be evaluated for infection and considered for empirical oral abx coverage • EV71 – life-threatening sequelae e.g. brainstem encephalitis, aseptic meningitis, acute flaccid paralysis (polio-like syndrome), autonomic dysregulation  pulmonary oedema + haemorrhage, myocardial impairment, myocarditis – 10-26% mortality rates o Encephalitis/encephalomyelitis – Acute or sub-acute onset of febrile illness, altered mental status, focal neurological abnormalities, seizures o Admit to hospital for symptomatic + supportive treatment • HFMD in pregnancy – miscarriage, stillbirth, congenital malformation, IUGR, hydrops fetalis • HFMD acquired around the time of delivery – neonatal infection o Mild + self-limiting o Neonatal complications – severe hepatic/respiratory/neurological disease

Answer 58

* Infection typically resolves spontaneously within 10-14 days * Spontaneous recovery with no complications – follow-up not usually required • Coxsackie A16 o Mild, self-limiting o Oral + skin lesions nearly always fully resolve without treatment in 7-10 days • Coxsackie A6 o Self-limiting o Initial acute phase followed by desquamation of the palms + soles for several weeks o Onychomadesis within 3-8 weeks of symptom onset • Enterovirus 71 o Higher incidence of neurological involvement (4%) (e.g. aseptic meningitis, encephalitis, encephalomyelitis) o Pulmonary oedema, pulmonary haemorrhage, myocarditis, polio-like syndrome, death o 8% mortality

Answer 59

* Chickenpox – itchy rash, mainly limited to trunk + extremities, round vesicle on an erythematous base that evolves into a pustule * Herpangina – coxsackie A viruses, high fever/malaise/headache/oral lesions/cervical lymphadenopathy – no associated exanthema (rash) * Herpes stomatitis • Herpes simplex o High fever, acute gingivitis, widespread oral ulceration o Small vesicles, oval, erythematous base, grouped together o No rash on the palms/soles – young children who suck their toes may have lesions on 1 or 2 digits • Aphthous ulcers – can become herpetiform + lead to stomatitis o Well child o No rash o No fever/malaise * Viral pharyngitis * Kawasaki disease * Pompholyx eczema * Bechet’s disease * Pemphigus vulgaris or oral bullous pemphigoid

Answer 60

* Acute disease caused by VZV * Incubation period – 1-3 weeks * Infectious from 1-2 days before the rash appears until the vesicles are dry or have crusted over – usually 5 days after the onset of the rash ``` RF • Hx of recent exposure to chickenpox • Significant exposure o Timing of exposure in relation to the rash onset in the index case  from 48h before onset of rash to crusting lesions (usually 5 days after) o Closeness + duration of contact  Maternal/neonatal contact  Continuous home contact  Contact in the same room for >15 mins or contact on large open wards  F2F contact e.g. having a conversation • Age 1-9 • Unvaccinated • Occupational exposure ``` ``` Epidemiology • Very infectious – up to 90% of susceptible contacts develop the disease • Transmission o Personal contact o Droplet spread • Highest incidence before 10 years of age • >90% of people >15 years are immune • Peak incidence – from March to May ```

Answer 61

Neonates • At increased risk of disseminated or haemorrhagic varicella • If mother becomes infected 1-4 weeks before delivery o Up to 50% of babies will be infected o 25% will develop clinical varicella of the newborn, even though they have passively acquired maternal antibody • If mother becomes infected at 20-27 weeks of pregnancy o Baby may develop shingles of infancy or early childhood due to reactivation of the primary in utero infection Children • Skin bacterial superinfection e.g. impetigo, furuncles, cellulitis, erysipelas, necrotizing fasciitis, scarring o May manifest as high grade pyrexia (often after initial improvement) o Erythema o Tenderness surrounding original chickenpox lesions • Neurological complications e.g. Reye’s syndrome, acute cerebellar ataxia, encephalitis, meningoencephalitis, polyradiculitis, myelitis • Congenital varicella syndrome (If varicella in pregnant women during the 1st or 2nd trimester o Cutaneous skin lesions o Limb hypoplasia or paresis o Microcephaly o Ophthalmic lesions • Rare – myocarditis, glomerulonephritis, appendicitis, pancreatitis, Henoch-Schonlein purpura, orchitis, arthritis, optic neuritis, iritis, keratitis Adults • More serious complications, more likely to be admitted • Pneumonia, hepatitis, encephalitis • Shingles

Answer 62

* Self-limiting disease * No F/U necessary * In 30% of people, VZV reactivates later in life as shingles or herpes zoster

Answer 63

• Vesicular viral rashes o HS – not usually disseminated o Herpes zoster (shingles) – usually unilateral + localised to dermatomes o Hand, foot and mouth disease ``` • Other infections o Impetigo o Scabies o Syphilis o Meningococcaemia (can be confused with haemorrhagic varicella) o Toxic shock syndrome ``` ``` • Skin disorders o Guttate psoriasis o Drug eruption o Insect bites o Popular urticaria o Erythema multiforme o SJS/TEN  Lesions can look like targets initially but eventually become flaccid blisters  Erythroderma, pain in involved areas  Blisters can become confluent + are associated with a positive Nikolsky’s sign – epidermal layers easily sloughs off when pressure is applied to the affected area  Hx of exposure to a medication associated with the condition o Henoch-Schoenlein purpura o Dermatitis herpetiformis ```

Answer 64

* Paramyxovirus * Incubation period = 16-18d * Most infectious from around 1-2 days before onset of symptoms to about 9 days afterwards * Spread by respiratory droplets, fomites or saliva

Answer 65

* Rare * Occur more frequently among adults than children • Epidydymo-orchitis o Unilateral mumps epididymo-orchitis can significantly but only transiently diminish the sperm count, mobility and morphology o Bilateral mumps epididymo orchitis causes infertility in 30-87% of affected men o Presentation – acute painful swelling of the testicle, systemic symptoms (high fever 39-40, chills, headache, vomiting) o O/E – affected testicle is usually enlarged (up to 4x the normal size), warm, tender + the scrotum may be reddened in appearance o Usually unilateral, tends to occur about 1 week after symptoms of parotitis * Oophoritis – N, V, lower abdominal pain * Encephalitis • Aseptic/Viral meningitis o Occurs about 4 days after parotitis o Usually benign – fever, headache, vomiting, neck stiffness, lethargy o Peaks after 2 days o Resolves over the course of about 1 week * Transient hearing loss * Myocardial complications • Pancreatitis o Upper abdominal discomfort o Mild and transient

Answer 66

* Self-limiting disease * Resolves within 1-2 weeks * Most people recover without any long-term complication * Nearly all people develop life-long immunity to mumps after one episode of infection

Answer 67

• Infectious causes that may present with parotitis o Viral infections – EBV, parainfluenza, adenovirus, influenza type A, coxsackievirus, parvovirus B19, lymphocytic choriomeningitis virus, HIV o Acute suppurative parotitis – acute bacterial infection (Staph aureus, atypical bacteria (e.g. TB)) • Non-infectious causes of parotitis o Parotid duct obstruction – salivary stones, cysts, tumours o Prescription drugs – thiazide diuretics, phenothiazines, thiouracil, iodide contrast media o Metabolic disorders – DM, cirrhosis, uraemia o AI diseases – sarcoidosis, Sjogren’s syndrome, Wegener’s granulomatosis

Answer 68

* Morbillivirus of the paramyxovirus family * Incubation period – 10 days * Person is infectious form when the symptoms first appear (around 4 days before the rash appears) to 4 days after the onset of the rash • Airborne infection – spread by o Droplets from coughing + sneezing o Close personal contact o Direct contact with nasal or throat secretions

Answer 69

• Susceptibility to opportunistic infection • Secondary infections of the respiratory tract o Otitis media (7-9% of cases) o Pneumonitis o Tracheobronchitis o Pneumonia (1-6% of cases) • CNS complications o Convulsions o Encephalitis o Blindness o SSE (subacute sclerosing panencephalitis) – rare, degenerative disease of the CNS involving seizures + decline in motor, cognitive, behavioural function o Up to 16x more common in children who contract measles at a very young age (<1y) o Occurs a median 7y after exposure to the virus – may occur as late as 3 decades afterwards – is invariably fatal • Diarrhoea • Complications more severe in o Children <5/Adults/pregnancy/immunocompromised/ chronically ill or malnourished children/ infants o Infants – more likely to require hospitalisation than older children + are at higher risk of pneumonia, otitis media, SSPE, mortality due to measles

Answer 70

* Most people with measles make a full recovery with symptomatic management after around 7 days of sx * Death from measles is rare in developed countries * Once infected, the person develops lifelong immunity * Susceptibility to opportunistic infection may last months to years after the measles illness

Answer 71

``` • Parvovirus B19 o Bright red rash on cheeks o Red/lacy rash on the rest of the body o No Koplik’s spots o Adults – arthralgia + arthritis ``` • Streptococcal infection (e.g. scarlet fever) o Maculopapular rash o Appears on the abdomen + spreads to the back + limbs 12-24h following symptom onset o Sore throat – usually a prominent symptom o Cough not generally a feature o Strawberry tongue • HHV6 (roseola infantum) o Mild illness – children look well (those with measles typically look + behave as if they are unwell) o May be asymptomatic o Fever can last for 3-5 days after which a maculopapular rash appears (when clinical improvement has occurred) o Rash starts from torso + spreads out • Rubella o Mild o If fever is present, it rarely occurs after the first day of the rash o Post auricular and sub-occipital lymphadenopathy o Rash is maculopapular but not confluent o Usually starts behind the ears + on the face + then spreads down the body (similar to measles) o No Koplik’s spots • Early meningococcal disease o Maculopapular rash o Becomes pruritic in later stages o Does not fade when a glass is pressed against it • Other causes of rash to consider that are associated with lymphadenopathy include Kawasaki disease + infectious mononucleosis

Answer 72

8w DTaP/IPV/Hib/HepB – 6-in-1 MenB Rotavirus 12w DTaP/IPV/Hib/HepB – 6-in-1 Rotavirus PCV 16w DTaP/IPV/Hib/HepB – 6-in-1 MenB o IPV = Salk – inactivated vaccine

Answer 73

``` 1y Hib/Men C PCV booster MMR Men B booster ``` 3y + 4m DTaP/IPV – 4-in-1 MMR (2nd dose, check first dose given) 12-13y HPV 14y Td/IPV – 3-in-1 MenACWY o IPV = Salk – inactivated vaccine

Answer 74

Annually from 2 years old All primary school children (reception to year 6) All year 7-year 11 children in secondary school Aged 2-17 with long-term health conditions* *if <9 + long-term health condition + never had a flu vaccine before  2 doses, 4 w apart live vaccine

Answer 75

If between 6 months + 2 years + long term health condition Flu vaccine injection (nasal spray not licensed for <2)

Answer 76

Consider whether to avoid specific vaccinations in the following • Acute febrile illness • Individuals with a hx of a confirmed anaphylactic reaction to a previous dose of the vaccine / to a component of the vaccine ``` o Egg allergy  Influenza  Tick borne encephalitis  Yellow fever  Hep A  Recent studies suggest that anaphylactic reactions to MMR are not associated with hypersensitivity to egg antigens  all children with egg allergy should receive the MMR but can be given in hospital if egg allergic ``` • Do not give live vaccines o Individuals with primary or acquired immunodeficiency– includes  Immunosuppression due to acute + chronic leukaemia + lymphoma  Severe immunosuppression due to HIV/AIDS – BCG CI in all HIV+ individuals  Cellular immune deficiencies (SCIDS, DiGeorge syndrome)  Being under follow up for a chronic lymphoproliferative disorder incl. haematological malignancies  Having received an allogenic/autologous SCT in the past 2m o Individuals on current/recent immunosuppressive therapy  High dose CS (>40mg prednisolone per day) for >1w  Low dose CS (>20mg prednisolone per day) for >2w  If immunocompromised for short-term – delay vaccines o Infants born to mothers who received immunosuppressive therapy during pregnancy – delay for 6 months o Those in contact with an individual with immunodeficiency/recent immunosuppressive therapy o Pregnant women

Answer 77

babies born to HBV infected mothers birth, 4w, 12w Hep B vaccine take blood for HBsAg at 12 months to exclude infection TB RF (born in a high incidence country/ parent/grandparent born in a high incidence country) at birth BCG

Answer 78

asplenic or splenic dysfunciton (incl. due to sickle cell + coeliac disease) Men ABCWY Pneumococcal Influenza Chronic respiratory/heart/neurological conditions) Pneumococcal Influenza diabetes Pneumococcal Influenza CKD Pneumococcal (stage 4, 5) Influenza (stage 3, 4, 5) Hepatitis B (stage 4, 5) ``` chronic liver conditions Pneumococcal Influenza Hep A Hep B ``` haemophilia Hep A Hep B immunosuppression due to disease or treatment Pneumococcal Influenza complement disorders Men ABCWY Pneumococcal Influenza

Answer 79

``` Listen Very Silently My Rude BOY • Live influenza vaccine (Fluenz Tetra) • Varicella vaccine (Varilrix, Varilvax) • Shingles vaccine (Zostravax) • MMR (Priorix, MMRVaxPro) • Rotavirus vaccine (Rotarix) • BCG vaccine • Oral typhoid vaccine (Ty21a) • Yellow fever vaccine ```

Answer 80

ROME is my best place to go yet BOYs Love The CRIME https://pbs.twimg.com/media/DKBeg2tW4AA3uxl.jpg Oral polio vaccine = sabin = live

Answer 81

* Rest in peace always * Rabies * Influenza * Polio (salk) - IPV - this is the vaccine being used for childhood immunisations in the UK (injection) * Hepatitis A, hepatitis B https://pbs.twimg.com/media/C_oj9VKXoAAA_N2.jpg

Answer 82

* Positive results + no symptoms (e.g. infant screening – blood spot immunoreactive trypsin test) followed by sweat + gene tests for confirmation or * Clinical manifestations + sweat/gene test results confirming CF or * Clinical manifestation alone

Answer 83

• ΔF 508 mutation • Abnormalities in the CFTR (CF transmembrane conductance regulator) o Cl- channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, reproductive organs o >2000 known disease-causing mutations that interrupt various stages of CFTR synthesis + function • Abnormalities in salt + water transport across epithelial surfaces • FHx • Known carrier status of both parents • Mutations in CFTR result in abnormal salt transport by epithelial cells, resulting in thick, sticky secretions. • In the pancreas, this leads to blockage of exocrine ducts, early activation of pancreatic enzymes, and eventual autodestruction of the exocrine pancreas. Therefore, most patients require supplemental pancreatic enzymes. • In the intestine, bulky stools can lead to intestinal blockage. • In the respiratory system, the absence of CFTR function results in mucus retention, chronic infection, and inflammation that eventuate in the destruction of lung tissue

Answer 84

``` • GI complications o Underweight/malnutrition o Intussusception o Meconium ileus o Fat soluble vitamin deficiencies - ADEK o Distal intestinal obstruction syndrome o Chronic liver disease o CF related diabetes (uncommon in children <10y, prevalence  with age and it affects up to 50% of adults) • Muscle pains, arthralgia • Male infertility caused by obstructive azoospermia (almost all males with CF are infertile) • Reduced female fertility •  BMD (incl. osteoporosis) • Severe CF – delayed puberty • Pulmonary complications o Pneumonia o Upper airway complications – nasal polyps, sinusitis • USI • Survival to almost 40 years of age ```

Answer 85

* Primary ciliary dyskinesia – chronic purulent middle ear infections * Primary immunodeficiency * Asthma * GORD * Chronic aspiration * Failure to thrive * Coeliac disease * Protein losing encephalopathy – loss of protein through the GIT – can be associated with Fontan’s procedure, lymphatic disorders, mucosal erosion * If distal intestinal obstruction syndrome – constipation, appendicitis, intussusception, cholecystitis

Answer 86

<3 complete stools per week (type 3 or 4)

Answer 87

IIn idiopathic constipation you really need to spend time exploring the social hx of the family! ``` • Obvious precipitating factors coinciding with the start of symptoms: fissure change of diet infections timing of potty/toilet training moving house starting nursery/school fears and phobias major change in family taking medicines ```

Answer 88

* Hirschprung’s disease (i.e. congenital megacolon) * Fissure * Colitis * Spinal or neuromuscular abnormalities * Cerebral palsy * Hypothyroidism * Anal stenosis * Imperforate anus with fistula * Allergy or sensitivity to cow’s milk * Coeliac disease

Answer 89

* Symptoms become chronic in >1/3 of patients * Constipation is a common reason for referral to secondary care * There is suitable treatment for idiopathic constipation but it may take several months for the condition to be resolved * Some children + young people may require laxative therapy for several years * A minority may require ongoing laxative therapy * Secondary behavioural problems are common

Answer 90

* Hypertrophy of the pyloric sphincter  narrowing of the pyloric canal * Most common cause of gastric outlet obstruction in the 2 to 12- week old age group * Typical patient – 3-6 w old infant (usually male) * May occur in older infants

Answer 91

Pyloromyotomy • Wound infection • Gastric or duodenal mucosal perforation • Incomplete myotomy • Postoperative emesis • Success of surgical treatment is near 100% • Indirect hyperbilirubinemia – resolves with hydration • Early recognition – metabolic abnormalities are less common

Answer 92

* GORD * Over-feeding – infants will not have difficulty gaining weight * Malrotation – bilious emesis * Acute infectious diarrhoea – pyloric stenosis usually presents with constipation * Food allergy * Duodenal/jejunoileal atresia – bilious emesis * Pyloric atresia – non-bilious emesis

Answer 93

• GOR o Effortless spitting up of 1 or 2 mouthfuls of stomach contents o Passage of gastric contents into the oesophagus o Normal – considered physiological in infants when symptoms are absent or not troublesome o Not GORD • GORD o Presence of troublesome symptoms or complications arising from GOR o Marked distress o Feeding difficulties o Faltering growth • Regurgitation (also known as “posseting”) o Voluntary + involuntary movement of part or all of the stomach contents up the oesophagus at least as far as the mouth + often emerging from the mouth o <1 y – may be considered entirely normal o Older children – may be a symptom of GOR or GORD

Answer 94

• Results from transient lower oesophageal sphincter relaxation (due to immaturity in early age) • Several anatomical + physiological features make infants <1 more prone to GOR than older children and adults o Short, narrow oesophagus o Delayed gastric emptying o Short, lower oesophageal sphincter that is slightly above, rather than below the diaphragm o Liquid diet + high caloric requirement – putting a strain on gastric capacity o Larger ratio of gastric volume: oesophageal volume

Answer 95

* Premature birth * Parental hx of heartburn or acid regurgitation * Obesity * Hiatus hernia * Hx of congenital diaphragmatic hernia (repaired) * Hx of congenital oesophageal atresia (repaired) * Neurodisability (e.g. cerebral palsy)

Answer 96

* Failure to thrive * Chronic lung disease * Reflux oesophagitis * Oesophageal strictures * Recurrent aspiration pneumonia * Recurrent acute otitis media (>3 episodes in 6 months) * Dental erosion in a child with neurodisabiliy (e.g. cerebral palsy) * Rarely, apnoea or apparent life-threatening events (episodes of combinations of apnoea, colour change, change in muscle tone, choking, gagging – sometimes considered “missed” SIDS)

Answer 97

• Usually begin <8w + resolve <1y of age in 90% of infants • Improvement in regurgitation + GORF thought to occur because of o An increase in the length of the oesophagus o An increase in tone of the lower oesophageal sphincter o A more upright posture o A more solid diet

Answer 98

• Transmission occurs directly though close contact with an infected person or indirectly via contaminated objects e.g. toys, clothing, towels • Bacteria enter the skin through breaks caused by minor trauma (e.g. insect bites, scratches) or underlying skin conditions (e.g. eczema, scabies) • Non bullous impetigo – Staph aureus, Strep pyogenes or a combination • Bullous impetigo – Staph aureus o Bullae form when exfoliative toxins produced by S. aureus cause loss of cell adhesion in the superficial epidermis

Answer 99

* Acute glomerulonephritis (following streptococcal impetigo) * Cellulitis * Staphylococcal scalded skin syndrome * Lymphangitis * Osteomyelitis + septic arthritis * Septicaemia * Scarlet fever, urticaria, erythema multiforme following strep. Infection)

Answer 100

* Self-limiting condition * Takes 2-3 weeks to clear if left untreated – abx treatment leads to more rapid resolution of infection + reduces the infective period * Relapse – more common in people with underlying skin conditions (e.g. eczema) + in staphylococcal carriers * In some cases (e.g. neonates, people with severe immunosuppression) – impetigo can be a serious condition leasing to life-threatening complications

Answer 101

• Skin infections + infestations o Bacterial skin infections – cellulitis, ecthyma, erysipelas, staphylococcal scalded skin syndrome, necrotizing fasciitis  Erysipelas – sharply demarcated erythematous plaques, typically unilateral + o n the face, oedema, warmth o Fungal skin infections – candidiasis, tinea corporis, tinea capitis  Dermatophytosis (tinea…) – peripheral scale, central clearing, crusting infrequent o Parasitic infestations – scabies  Scabies – dermoscopy showing the classic burrow found particularly on the hands, elbows, genitals o Viral infections – VZV, HSV • Non infective skin conditions o Dermatitis – atopic, contact, herpetiforms  Dermatitis herpetiforms – Associated with coeliac disease – multiple vesicles grouped on the lower back + around elbows + knees, intensely puritic o Insect bites o Bruns and scalds o Drug reactions o Other skin disorders – pemphigus vulgaris, bullous pemphigoid, lupus erythematosus, erythema multiforme, sweets syndrome, SJS  Pemphigus vulgaris – larger superficial blisters, prominent mucosal involvement, older patients  Erythema multiforme – target lesions with violaceous centre, pt uncomfortable  SJS – involvement of the conjunctiva, pt systemically ill

Answer 102

* Vasculitis affecting medium sized arteries * Acute febrile illness lasting >5 d * Assess children with fever lasting >5 d for Kawasaki disease * Not contagious

Answer 103

For diagnosis • Fever Plus 4/5 of • Polymorphous erythematous rash • Non-purulent bilateral conjunctival injection • Oropharyngeal changes (incl. diffuse hyperaemia, strawberry tongue, lip changes) • Peripheral extremity changes (incl erythema, oedema, induration, desquamation) • Non purulent cervical lymphadenopathy Ask parents about the presence of these features since the onset of fever – may have resolved by the time of the assessment Incomplete Kawasaki disease – fever but not enough other features to fit the dx criteria (15-20%) – increased risk of complications due to diagnostic delay

Answer 104

``` • Coronary aneurysm – in 20-25% of untreated patients o Regress after 1-2 years o 1% become giant aneurysms (>8mm diameter) • Sudden cardiac death • MI • Coronary artery aneurysms + rupture • Pericarditis • Myocarditis • Cardiac valvular disease • Cardiac dysrhythmia • Heart failure • Acute arthritis • Dehydration in the acute phase of the illness ``` * 0.08-3.7% mortality * Leading cause of acquired heart disease in children <5 * Up to 50% show echo evidence of cardiac impairment + mild MR * Recurrence in <1%

Answer 105

• Staph or strep infection • Systemic JIA – syndrome of fever, rash, lymphadenopathy, arthritis • Scarlet fever o URTI, diffuse papular erythematous rash on trunk/extremities/face with circumoral pallor o Resolution of rash associated with desquamation that starts in the face and progresses downward o Unlike KD – in scarlet fever lops are spared + there is no conjunctivitis • Acute rheumatic fever • Toxic shock syndrome • Staphylococcal scalded skin syndrome • SJS – high fever, pronounced constitutional symptoms, skin rash manifested by diffuse bullae, involvement of mucosal membranes • TEN • Drug reaction • Measles – exudative conjunctivitis, Koplik’s spots, rash that typically begins behind ears, patients appear more unwell • Rubella • EBV • Parvovirus B19 infection • Enteroviruses • Meningitis or encephalitis

Answer 106

o Acquisition of secondary sexual characteristics o Accelerated linear growth o Increase in the secretion of sex hormones o Maturation of gonads (testes in boys, ovaries in girls) o Potential for reproduction o Typically complete within 2 to 5 years o For boys begins when tetes size is at stage 4 on Prader orchidometer

Answer 107

• Precocious puberty = Appearance of secondary sexual characteristics o <8 years in girls o <9 years in boys • 2 forms o Gonadotrophin dependent precocious puberty (GDPP)/Central precocious puberty – due to premature activation of the hypothalamo-pituitary-gonadal axis o Gonadotrophin independent precious puberty (GIPP)/precocious pseudopuberty or peripheral precocious puberty– autonomous secretion of sex steroids

Answer 108

o Typically idiopathic o Abnormalities of the CNS  Tumours – gliomas, astrocytomas, hamartomas, pineal tumours, hcg-secreting germ cell tumours  can provoke premature activation of the hypothalamo-pituitary-gonadal axis • Most common – optic + hypothalamic gliomas, astrocytomas • Hamartomas of the tuber cinereum – congenital tumours composed of a heterotopic mass incl. GnRH neurosecretory neurones  GDPP often occurring <3y, particularly in males  CNS trauma or injury – infection, radiation, surgery  Hamartomas of the hypothalamus  Congenital disorders – hydrocephalus, arachnoid cysts o Sexual abuse – precipitating cause

Answer 109

o CAH  21-hydroxylase  Males – GIPP  Females – virilisation (pubic + axillary hair, clitoromegaly) due to excess androgen, no breast development o Tumours – HCG-secreting tumours of the liver (hepatomas, hepatoblastomas), choriocarcinomas of gonads/pineal gland/mediastinum, adrenal tumours, ovarian tumours, testicular Leydig-cell tumours  High sex steroid concentrations  Leydig cell tumours – associated with virilisation + conversion of testosterone  estradiol leads to gynaecomastia in males  Gonadoblastomas, adrenal virilising tumours  Granulosa cell + germ cell tumours – can secrete both androgens + estradiol  Hcg gonadotrophin-secreting germ cell tumours – may occur in the gonads, brain, liver, retroperitoneum, posterior mediastinum – are rare and cause precocious puberty in males only o McCune-Albright syndrome  Risk of multiple endocrinopathies – thyrotoxicosis, Cushing’s, acromegaly, hyperparathyroidism  Café au lait spots, pathological fractures (fribrous dysplasia of the bones), recurrent ovarian cysts  More common in girls o Testotoxicosis – in the first 2-3 years of life o Severe hypothyroidism/ van Wyk-Grumbach syndrome – growth is arrested (unusual with precocious puberty) rather than accelerated o Exogenous oestrogen or androgen exposure (therapeutic or accidental)

Answer 110

• Short stature as an adult o Sex hormones directly stimulate the growth plate +  GH secretion (from oestrogen from ovaries or aromatised form of testicular testosterone)  growth spurt o Paradox of tall stature in childhood due to accelerate rate of linear growth o Normal/short stature as adult  early fusion of the epiphyseal growth plates • Psychological problems

Answer 111

• Reduced adult height due to accelerated skeletal development o Treatment with GnRH improves adult height, particularly in <6 o If >7 – treatment may have little effect on adult height o For GDPP without treatment, most girls aged 6-8 years at the onset of puberty will achieve adult height within the normal range • In patients with long-standing GIPP, prolonged exposure to high levels of sex steroids can lead to GDPP (sex steroids may have a direct maturational effect on the hypothalamus + accelerate the onset of centrally mediated puberty) • Gonadotrophin secretion recommences approx. 3-4 months after stopping treatment, with normal pubertal progress + fertility

Answer 112

• When there is rapid progression of signs and accelerated growth – rule out CAH + virilising adrenal tumours • Premature thelarche • Premature adrenarche • CAH • Adrenal tumours o Short hx of virilisation, accelerated growth rate, advanced bone age o Ix – urine steroid profile analysis (abnormal pattern of adrenal hormone secretion), imaging of adrenal glands • Cushing’s syndrome o Virilisation without testicular enlargement/breast enlargement o Cushingoid features – central obesity, thin extremities, nuchal fat pad, moon facies, purple striae, bruisability o Ix -  24h urinary free cortisol,  8am serum cortisol with loss of circadian rhythm, undetectable ACTH, low + high dexamethasone suppression test (failure of cortisol production) • PCOS • Primary hypothyroidism o high TSH can cause high FSH – isolated breast development/testicular enlargement without other secondary sexual characteristics o no pubertal progression in the majority of cases o delayed bone age + poor growth velocity o TSH directly activates the FSH receptor (the 2 hormones have structural similarity)

Answer 113

• Family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal cortex • Most common enzyme deficiency – 21-hydroxylase deficiency (90%) o Classical CAH * Production of cortisol occurs in the zona fasciculata * Deficiency of 21-a hydroxylase  insufficient cortisol production   production of CRT + ACTH * High ACTH  adrenal hyperplasia + production of excess androgens which do not require 21-hydroxylase synthesis https://bestpractice.bmj.com/api/image/699/en-gb/normal/699-230821-iline.gif?status=ACTIVE

Answer 114

o Classical CAH  Salt-wasting (75%) • Most severe form of disease • Symptoms of hyperandrogenism o May present with atypical genitalia in females, hyperpigmentation in males • Renal salt-wasting o Characterised by GC + MC deficiency  life-threatening adrenal crises + salt-wasting crises – vomiting and dehydration, occur early in infant life  Simple virilising (25%) • Enzyme defect is moderate • Females – Dx at birth – clitoral enlargement, partially fused labia majora, urogenital sinus • Males – differentiation of external genitalia unaffected, may only present with hyperpigmentation (suggest  ACTH) • Sign of hyperandrogenism • Retain ability to conserve salt o Non-classical  Mild to moderate enzyme deficiency  Present in later childhood or early adulthood with signs of hyperandrogenism  Females do not have virilised genitalia at birth  Signs of hyperandrogenism  May present as precocious puberty (axillary hair or odour, pubic hair, acne, tall stature with advanced bone age that may eventually result in short stature)  Females – Oligomenorrhoea, amenorrhoea, delayed menarche, PCOS, acne, hirsutism, alopecia, impaired fertility, temporal baldness  Males – early beard growth, enlarged phallus, small testes, short stature, oligozoospermia

Answer 115

• Iatrogenic Cushing’s syndrome • Adrenal crisis o Due to decreased cortisol levels o Azotaemia, vascular collapse, shock, death o can occur as early as 1-4 weeks of age o mx – IM or IV hydrocortisone + IVF • Short stature • Osteopenia +  fracture risk o Due to long term GC use • Testicular adrenal rests o Benign tumours seen in male patients with classical salt-wasting CAH who are inadequately treated o Deficient spermatogenesis o Regular screening with testicular US, beginning in adolescence o MRI or US + biopsies to confirm the benign nature of the tumour o GC replacement will cause reduction in the masses o Testis sparing surgery or orchidectomy may be required • Precocious puberty • PCOS • Infertility • Common – obesity, insulin resistance, hypertension -  risk of CVD Prognosis • Healthy, normal lives if adherent to treatment • Poor adherence - hyperandrogenaemia, Addisonian crisis • Chronic glucocorticoid therapy – adrenal insufficiency • Virilisation of female infants born to mothers with CAH has not been reported but is a possibility in uncontrolled cases.

Answer 116

• Addison’s disease o Muscle weakness, fatigue o ACTH stimulation in Addison’s disease  poor or absent cortisol response • PCOS • Gender dysphoria – lab tests normal • Familial glucocorticoid syndrome o Pallor, sweating, palpitations, hunger, visual changes, mental status changes • Renal salt-wasting o Hx of diuretic use and/or uncontrolled DM o 17-hydroxyprogesterone is normal

Answer 117

• Lack of any pubertal signs by the age of o 13 years in girls o 14 years in boys • May be o Functional = constitutional delay, underlying chronic disease, malnutrition, excessive exercise o Organic  Hypogonadotrohic hypogonadism = Lack of serum gonadotrophin production or action • Usually due to a hypothalamo-pituitary abnormality • Hypothyroidism  Hypergonadotropic hypogonadism = gonadal insufficiency with elevated gonadotrophins • E.g. Turner syndrome, Klinefelter’s syndrome

Answer 118

* FHx of delay * Congenital pituitary abnormalities * Gene mutations * Chromosomal disorders * Syndromic dx * Anosmia * Eating disorders * Chronic systemic illness * Malnutrition * Intense exercise * Congenital + acquired gonadal abnormalities

Answer 119

* Osteoporosis – absence of sex steroids  inadequate bone mineralisation * Psychological problems * Skin irritation from gels and patches * Polycythaemia – particularly with IM testosterone preparations

Answer 120

* Temporary delay e.g. constitutional delay – excellent prognosis, achieve normal gonadal function post-puberty without testosterone or oestrogen replacement therapy * Chronic illness/malnutrition/intense exercise – recover after resolution of illness or exercise * Permanent cause – organic gonadotrophin deficiency, Turner’s, Klinefelter’s, previous pituitary surgery for craniopharyngioma – lifelong hormone therapy

Answer 121

• POI or Premature testicular failure o Pt may have had normal pubertal development or present with pubertal arrest • Hypothyroidism o Causes hypogonadotropic hypogonadism leading to delayed puberty • PCOS • Outflow tract obstruction (incl. imperforate hymen, transverse vaginal septum) - normal pubertal development and lack of menarche – O/E either a perirectal mass or bulging hymen with haematocolpos • Complete androgen insensitivity o Phenotypically female with normal timing of breast development – 46XY male in a phnoypic female o Minimal to no pubic hair growth, no menarche o O/E – absent/blind vaginal pouch, palpable inguinal mass (testes) o US – presence of testes with no ovaries or uterus • 5-a reductase deficiency o Boys – Poor virilisation at puberty o Genital ambiguity o Testosterone: dihydrotestosterone ratio markedly elevated • Cushing’s syndrome o May present with oligomenorrhoea o Normal pubertal development

Answer 122

• A collection of chronic paediatric inflammatory arthritides characterised by o onset <16 years of age o the presence of objective arthritis (in >1 joints) o for at least 6w o other known conditions are excluded • There are several subtypes o Oligoarticular o Polyarticular o Systemic onset • A syndrome of fever, rash, lymphadenopathy, arthritis • Fever of unknown origin, organomegaly, serositis (pericarditis, pleuritis) • Anaemic patients, extremely high acute-phase markers • Arthritis of joints = swelling or effusion,  warmth and/or painful limited movement +/- tenderness

Answer 123

• Systemic arthritis o Arthritis in >1 joints, with or preceded by fever of at least 2 weeks’ duration o Signs or symptoms must have been documented daily for at least 3 days + accompanied by >1 of the following • Evanescent rash • Generalised lymphadenopathy • Hepato/splenomegaly • Serositis • Oligoarthritis o Arthritis affecting 1-4 joints during the first 6 months o Persistent oligoarthritis affects up to 4 joints throughout the course of the disease o Extended oligoarthritis affects >4 joints after the first 6 months of disease • Polyarthritis (RF negative/positive) o RF negative or positive arthritis o Affecting >5 joints during the first 6 months of the disease o For RF positive – >2 RF tests taken at least 3 months apart + are positive during the first 6 months of disease

Answer 124

* F>M * Age <6 * HLA polymorphisms * FHx of autoimmunity

Answer 125

• If ongoing inflammation + poor disease control o Leg length discrepancy, micrognathia o Joint erosion – might lead to need for joint replacement o C-spine fusion and C1-C2 subluxation • Uveitis o Chronic, anterior, non-granulomatous inflammation o Affects iris + ciliary body o Screening with slit lamp important as onset is insidious + asymptomatic o Topical CS o Methotrexate for systemic immunosuppression if – inactivity not achieved within 3m or inflammation is reactivating during CS dose reduction o Anti TNF-a if methotrexate ineffective • Macrophage activation syndrome o Life-threatening complication of systemic-onset juvenile idiopathic arthritis o Fever, purpuric rash, hepatosplenomegaly, lymphadenopathy, hepatic failure, encephalopathy, bruising, mucosal bleeding o Pancytopenia,  ESR,  LGTs, DIC-like coagulopathy o Diagnostic features – if the following criteria are met in a febrile patient with known/suspected systemic JIA • Ferritin >684 μg/L + any 2 of • Plt counf <181 x 10ˆ9/L • ASP >48 U/L • TG >1.76 mmol/L • Fibrinogen <3.6 g/L o Mx – high dose IV CS • CS – osteoporosis, growth failure

Answer 126

* Approx. 2/3 of pt achieve remission or inactive disease * Oligoarticular disease has the best prognosis with better functional outcomes + greater proportion of pt achieve remission • Around 10-20% of children with JIA are at risk of developing anterior uveitis o All children with a dx of JIA must undergo regular ophthalmological examinations to detect + manage inflammation o 25-50% of children with uveitis develop cataracts, glaucoma, synechiea o 10-20% develop visual loss • RF for poor prognosis in oligoarticular JIA o Arthritis of the hip or cervical spine o Arthritis of the ankle or wrist o Prolonged inflammatory market elevation o Radiographic evidence of erosions or joint space narrowing • RF for poor prognosis in polyarticular JIA o Presence of ANA o Presence of RF – associated with aggressive disease o Joint damage at presentation o High-risk joint involvement (cervical spine, wrist, hip) o High disease activity o Pt judged by physician to be at high risk of disabling joint damage

Answer 127

* Septic arthritis – single joint involvement, high fevers, severe pain, and/or erythematous joints * Osteomyelitis – high fevers, severe pain, and/or focal tenderness * Malignancy • Reactive arthritis o Asymmetrical oligoarticular arthritis o Begins 1-4 weeks after genitourinary or GI infection o May be associated with enthesis, dactylitis, conjunctivitis, iritis, rash • Acute rheumatic fever o Acute migratory arthritis o Responds well to NSAIDs o Continuous fever, cardiac involvement, and/or erythema marginatum ``` • SLE o Non-erosive polyarthritis o Malar rashes o Renal involvement o Photosensitivity o Serositis, CNS involvement ``` • Juvenile dermatomyositis o Muscle weakness + pain o Characteristic rashes – Gottron’s papules, linear extensor erythema, heliotrope rash o Polyarticular non-erosive arthritis – usually responds to treatment of the underlying myositis ``` • Kawasaki disease o High persistent fevers that do not normalise for several days (>5 days) o Polymorphous rash o Involvement of lips + conjunctiva o Oedema of extremities o Desquamation ``` ``` • Osteochondritis dissecans o Activity related pain o Occasional recurrent bland effusions o Localised tenderness on examination o XR may show subchondral fractures ```

Answer 128

Intellectual impairment may be either • Generalised (cognitive impairment) o IQ below average, <70 o Degree of cognitive impairment depends on the underlying disorder + its severity o o Age at which it becomes manifest varies according to severity o In some children, mild generalised cognitive impairment becomes more obvious when the child starts attending school • Specific to one area (learning difficulty) o These children have difficulties with a particular mental task but a normal IQ o E.g. specific language impairment, dyslexia (reading + writing), dyscalculia (using numbers) Cerebral palsy • Children with static brain injury of varying aetiology (e.g. premature birth, hypoxic-ischaemic injury, meningitis, intracerebral haemorrhage) associated with a disorder of movement and posture • NOT a cause of cognitive impairment • The two conditions can co-exist o For this reason, a cause-and-effect relationship is often mistakenly assumed both by clinicians and the general public

Answer 129

• Cognitive impairment or LD may be developmental or acquired • Developmental o Genetic conditions – DS, ASD, ADHD, fragile X syndrome, prader-willi syndrome, Angelman’s syndrome, William’s syndrome, Rett’s syndrome, Turner’s syndrome, Tuberous sclerosis, Di George sydrome o Fetal alcohol syndrome o Intra-uterine infections – CMV, toxoplasmosis, rubella, o Teratogenic drugs o Premature birth, perinatal hypoxia o Congenital hypothyroidism, inborn errors of metabolism (PKU) • Acquired causes o CNS infections – bacterial meningitis (pneumococcus or Haemophilus meningitis most likely to cause cognitive impairment), encephalitis (HS) o CNS tumours o Hypoxia/ asphyxia o TBI o Seizures o Psychosocial deprivation • Majority of conditions associated with specific LD + generalised cognitive impairment are o Developmental in origin o Linked to abnormalities in brain structure and function o Present from birth • Idiopathic

Answer 130

• Full developmental history o Should always be taken even when the cause appears obvious – there maybe multiple co-existing pathologies o Children with developmental delay may not have cognitive impairment (e.g. Duchenne’s muscular dystrophy) o Neurodevelopmental hx* o AN hx – drugs, no. of AN scans, age of parents o Perinatal hx – GA, perinatal hypoxia or if the child required resuscitation, if the child cried straight away or if he/she needed help breathing o Hospital admissions or prolonged periods of illness – intrauterine infection/toxicity/perinatal hypoxia – require admission to neonatal units, hx of later admissions due to meningitis/encephalitis, TBI o FHx – hx of developmental delay/specific LD/cognitive impairment/seizures in parents/siblings/grandparents/extended family, consanguineous marriage o SHx o Schooling – any difficulties, concerns of other carers/school staff members Neurodevelopmental history* • Assess developmental milestones (incl. rate of progress) • Establish current functioning in terms of language + communication, social + motor development, hearing + vision, level of understanding • Relevant developmental milestones o 10-18 months – using words besides mama and dada o 12m – responding to simple instructions, exploring, trial and error o 12-18m – walking unaided o 12-18m – pointing to objects that are of interest o 18m – naming parts of the body o 24-30m – 2 word phrases

Answer 131

• Developmental assessment o Tools – The ages and stages Questionnaire, Schedule of growing skills o More detailed assessments of cognitive ability (psychologist), expressive + receptive language (SALT), motor ability (OT or PT) o Other tools used to assess the development of young children • Bayley's Developmental Scales • Griffiths Mental Development Scales • Kaufman Scales o IQ assessment • Wechsler Preschool and Primary Scale of Intelligence (WPPSI) • Wechsler Intelligence Scale for Children (WISC) o Reading, language, mathematical ability assessment • Wechsler Individual Achievement Test (WIAT)

Answer 132

* Isolated delayed walking but normal fine motor hand skills and no other difficulties  ? diplegic cerebral palsy  MRI brain scan  diagnosis * No motor difficulties but has delayed social communication skills  ?autism * Generalised developmental delay (gross motor, fine motor, social, and communication delay)  more suggestive of a genetic abnormality (such as Down's syndrome) or a widespread brain abnormality (quadriplegic cerebral palsy) * Normal IQ + specific difficulty (e.g., reading and spelling)  this points toward a specific diagnosis (e.g., dyslexia)

Answer 133

ASD social communication difficulties and repetitive or/and stereotypical behaviours from early infancy; difficulties making friends, social isolation, may be associated with other cognitive disabilities but some individuals may be high functioning (previously characterised as high-functioning autism or Asperger's syndrome); more severely affected individuals may have language delay or regression; epilepsy may be present; co-ordination difficulties; hyperactivity; may be part of a syndrome (Down's, tuberous sclerosis, fragile X); more common in males Social (pragmatic) communication disorder persistent difficulty with verbal and non-verbal communication, not explained by low cognitive ability, causing limitations in social relationships or academic achievement; there may be a history of delayed acquisition of spoken and written language Specific language disorder delayed and disordered language, normal social communication, no repetitive or stereotypical behaviours Dyslexia reading and/or spelling difficulties, no cognitive impairment, may have history of language delay; may show strengths in non-language visual processing

Answer 134

• Sudden, rapid, recurrent, non-rhythmic motor movements or vocalisations • Can be classified into 4 disorders o Other specified + unspecified tic disorders o Provisional tic disorder o Persistent (chronic) motor or vocal tic disorder o Tourette’s disorder • Escalating hierarchy of dx starting from the lowest: (1) other specified + unspecified tic disorders  (2) provisional tic disorder  (3) persistent motor or vocal tic disorder  (4) Tourette’s disorder (highest)

Answer 135

Onset of all disorders <18 Provisional tic disorder • Single or multiple motor AND/OR vocal tics • <1 y since first tic onset • Criteria have never been met for Tourette’s disorder Persistent (chronic) motor or vocal tic disorder • Single or multiple motor OR vocal tics have been present during the illness but not both • >1 y since first tic onse • Criteria have never been met for Tourette’s disorder Tourette’s disorder • Both multiple motor and >1 vocal tics have been present at sometime during the illness, although not necessary concurrently • >1 y since first tic onse

Answer 136

* Begin around age 7 or 8 * Tic severity peaks by age 11 + there is a gradual decrease in symptoms afterwards for most (around 80%) * Will diminish as puberty progresses * Around 35% of individuals will also have co-morbid OCD while up to 90% will have obsessive compulsive symptoms * Other comorbid conditions – ADHD (50%), ASD (10%), mood, anxiety, disruptive behaviour (30%) * Only 10% will not have any comorbidity * Be aware that tics and stereotypies (repetitive or ritualistic movements such as body rocking) are more common in children with autism or a learning (intellectual) disability • Tics will wax and wane with time • Can get worse before they get better o It is possible the tics will get worse without treatment • Will diminish with age as puberty progresses • Tourette’s o Max. tic severity 10-12y o From age 12 onwards, tic frequency + severity  in majority of teenagers through to adulthood

Answer 137

* Behavioural problems – OCD, ADHD, separation anxiety, overanxious disorder, simple phobia, agoraphobia, mania, MDD, oppositional defiant behaviour – clinician should inquire + monitor for these sx when manging a pt with tic disorders – these behavioural problems may present later in the course of the disorder * Cardiac arrhythmias associated with neuroleptic or alpha-2-adrenergic agonist therapy – screen pt for cardiac risk factors, consider ECG

Answer 138

• Abnormal movements that accompany other medical conditions o Motor stereotypies • Egosyntonic, involuntary rhythmic, repetitive, predictable movements • Appear purposeful but serve no adaptive function or purpose • Earlier age of onset (<3y), longer duration (s to m), constant fixed forms • Do not start in the face or neck • Lack of premonitory urge • Get worse when individual is engrossed in an activity • Diminish with distractions (e.g. name called or touched) • Include – repetitive hand waving/turning, arm flapping, finger wiggling • Common in children with autism or LD o Chorea • Rapid, random continual, abrupt, irregular, unpredictable, non-stereotyped actions • Usually bilateral • Affect all parts of the body (face, trunk, limbs) • Timing, direction, distribution of movements varies, • Movements worsen during voluntary action • Acute onset of chorea in children most commonly due to Sydenham’s chorea (acute rheumatic fever) o Dystonia • Simultaneous sustained contracture of both agonist + antagonist muscles  distorted posture or movement of parts of the body • Usually triggered by voluntary movements • Not seen during sleep • Not premonitory sensation, cant be suppressed o Dyskinesia • Involuntary choreoathetoid movements often involving head and trunk o Ballismus • Movements are large amplitude + typically unilateral o Tremor • Involuntary oscillatory movement of a body part that is rhythmic compared with the movements due to tic disorder • Seizures • Myoclonus o Sudden unidirectional movement that is often nonrhythmic o More rapid than the brie movement of most tics o May be worsened by movement o Occurs during sleep o Differentiated from tics by its rapidity, lack of suppressibility, absence of premonitory urge • Restlessness/figetiness • Compulsions in OCD o Compulsion preceded by an obsession o Need to perform a particular action in a particular fashion a certain number of times equally on both sides until a just right feeling is achieved • Conversion disorder • Medication of substance induced tics o Cocaine use is known to cause either temporary or permanent tics • Paroxysmal dyskinesias • PANDAS (paediatric auto-immune neuropsychiatric disorders associated with streptococcal infection) o Group A step exposure linked to tic disorders o Characterised by tic disorders or OCD o Positive throat culture for group A streptococci associated in time with an exacerbation of tic symptoms

Answer 139

• Acquired • Potentially reversible • Lesion of the subchondral bone resulting in delamination + sequestration +/- articular cartilage involvement + instability o Subchondral bone = layer of bone just below the cartilage in a joint • Main joints = knee, ankle, radiocapitellar joint of the elbow

Answer 140

• Repetitive throwing/valgus stress • Gymnastics/ weight-bearing on upper extremity o Puts excessive valgus compressive force on the vulnerable chondroepiphysis of the radiocapitellar joint in the skeletally immature patient • Ankle sprain/instability • Competitive athletics

Answer 141

* Persistent pain with activity * Articular incongruity + early degenerative joint disease Prognosis • 50% of juvenile osteochondritis dissecans lesions will heal within 10-18 months in patients who comply with management • Children <12 – more tendencies to spontaneously heal than those >15 years of age • Elbow – unrestricted sport activity may begin 3-6m after treatment is initiated

Answer 142

• Osteochondral fracture o When the articulating cartilage + part of the underlying bone break off the bone o Acute onset of pain following traumatic event o May be associated with large haemarthrosis • Meniscal tear o May/may not be associated with traumatic event o Point of maximal tenderness will be along the joint line as opposed to the femoral condyle o Deep knee flexion – posterior with meniscal tear, anterior with osteochondritis dissecans • Septic arthritis o Effusion + synovitis o Systemic signs – infection, fever, chills o Erythematous joints,  warmth o ROM limited 2o to pain • Bone contusion o Joint pain following traumatic injury o Presence of effusion unlikely o Point of maximal tenderness over bone as opposed to the articular surface o Mechanical symptoms not present • Soft-tissue contusion o Superficial pain – tenderness in overlying soft tissue o No effusion present, no mechanical symptoms • Panner’s disease o Impaired blood supply to capitellum growth plate o 5-12y

Answer 143

``` • Inflammatory condition of the bone • Caused by an infecting organism • Suspect in an unwell child with a limp or in an immunocompromised patient • Severity depends on o Aetiology of infection o Pathogenesis o Extend of bone involvement o Duration o Host factors particular to the individual patient ``` Peripheral osteomyelitis = usually occurs in the major long bones (e.g. femur, tibia, humerus) but can occur in small bones too If acute – presents in <2w

Answer 144

``` o Infants • S aureus • GBS • Aerobic gram -ve bacill (e.g. E. coli) • Candida albicans o Children 3m-5y • S. aureus • Kingella kingae • Group A strep. (GAS) • Strep pneumoniae • Haemophilus influenza (in those not immunised) • Pseudomonas (due to foot puncture wounds) o Children >5y • S. aureus • GAS o Sickle cell pt • S. aureus • Salmonella species ```

Answer 145

* Haematogenous spread of infection * Direct inoculation of micro-organisms into bone * Contagious focus of infection • Walking barefoot  may predispose children to osteomyelitis from penetrating injury (pseudomonas, can be waterborne) • Previous osteomyelitis • Penetrating injury • Distant or local infection • Sickle cell disease • RhA • CKD • Immunocompromising conditions – DM, HIV • Recent surgery • In children – URTI or varicella infection o Also need to ask whether they have received the Haemophilus influenzae type B (Hib) vaccination

Answer 146

``` • Growth disturbance o Osteomyelitis can cause premature physeal closure  short limbs, angular deformity • Joint stiffness • Fracture • Infection recurrence ```

Answer 147

* Septic arthritis * JIA * Transient synovitis * Reactive arthritis * Slipped capital femoral epiphysis (SCFE) * Perthe’s disease * Cellulitis * Necrotising fasciitis

Answer 148

• Food allergy = Adverse immune-mediated response which occurs when a person is exposed to specific food allergens – (ingestion, inhalation, skin contact) • Food sensitisation = production of serum-specific IgE to food allergens without the clinical symptoms of an allergic reaction on food exposure • Food intolerance = non-immune adverse reactions to foods and/or food additives o Often present non-specifically with GI sx, headache, fatigue, MSK sx o Delay in symptoms onset, prolonged symptomatic phase • Consider a dx of food allergy in people who have unexplained persistent sx of o Atopic eczema o Faltering growth

Answer 149

• Known food allergy • Known atopic eczema o Early onset atopic eczema before 6m + severe eczema <1y  associated with development of egg, milk, peanut allergy o Peanut allergy may develop through skin sensitization in children with an impaired skin barrier function • FHx of food allergy • FHx of atopy • Factors which may increase the likelihood of severe food allergy +/or anaphylaxis o Hx of asthma esp. if poorly controlled o Hx of other atopic disease e.g. atopic eczema, allergic rhinitis o Hx of previous systemic allergic reaction o Allergy to food classes of peanut, tree nut, fish, shellfish

Answer 150

• Oral allergy syndrome (or pollen-food syndrome) = localised food allergy which may occur due to cross-reactivity between aeroallergens (e.g. birch pollen) and fresh vegetables, fruits and nuts o As a result, pollen sensitized people mount an IgE response to epitopes present in fruit + vegetables on oral contact • Latex fruit syndrome = 30-50% of people with known latex allergy experience a phenomenon where latex allergens cross-react with plant-derived food allergens, resulting in allergy to banana, kiwi, avocado, tomato, potato, chestnut

Answer 151

• Severe + life-threatening reactions o Food allergy is the most common trigger of anaphylaxis in the community o Risk of anaphylaxis depends on the specific food allergy – allergy to peanuts, tree nuts, fish, shellfish are associated with a higher risk of anaphylaxis • Stress + anxiety • Reduced QOL • Restricted diet + malnutrition Prognosis • Most children outgrow their food allergy over time • Certain food allergies are more likely to persist – peanuts, tree nuts, fish, shellfish

Answer 152

Conditions that present similarly to IgE-mediated food allergy • Acute spontaneous urticaria + angio-oedema o Sx without an allergic trigger o Sx often following viral infection o Suspect if there are persistent sx for days/weeks despite allergen avoidance or lack of sx following future ingestion of suspected allergen • Carcinoid syndrome – watery diarrhoea, upper body flushing – sx provoked by eating or alcohol ingestion • Food intolerance – suspect if there is a delay in sx onset + prolonged sx o IBS – increase sx following foods rich in carbohydrates, fatty food, coffee, alcohol, spices • Food poisoning + toxic reactions • Food refusal or aversion – in younger children, food allergy may present as food refusal due to sx the child cannot articulate e.g. oral tingling, burning, difficulty swallowing, abdominal pain, nausea

Answer 153

• Swelling of the deep dermis, SC or submucosal tissue • Often affects the face (lips, tongue, eyelids), genitalia, hands, feet • Less commonly, the submucosal swelling affects the bowel + airway • Can be classified o According to its duration • Acute (symptoms lasts for <6w) • Chronic (symptoms persist for >6w) o According to its cause • Allergic angio-oedema • Non-allergic drug reaction • Idiopathic angio-oedema • Hereditary C1 esterase inhibitor (C1-INH) deficiency (or hereditary angio-oedema) • Acquired C1-INH deficiency (or acquired angio-oedema)

Answer 154

• Non-allergic cause is likely • Suspect non-allergic rxn if person on ACEi • Suspect HAE o FHx of angio-oedema o If hx of one of the parents being affected o Dx confirmed by finding low serum levels complement C1 inhibitor in a person with a family hx of angio-oedema • Suspect AAE o No FHx of angio-oedema o If person is known to have lymphoma (usually splenic villous lymphoma) or a connective tissue disorder (e.g. SLE) + no family history of angio-oedema o Dx confirmed by finding low serum levels of complement C1 in a person with a known cause for the condition but no family history

Answer 155

• Suspect an allergic cause if angio-oedema o Is transient (h to d) o Occurs within 1-2h of exposure to a known allergen • Suspect idiopathic angio-oedema o If person has recurrent episodes of angio-oedema + urticaria + no allergic cause can be identified o More common in people with AI disorders – SLE, AI thyroiditis o Look for clinical features of these conditions if they have not been previously diagnosed o Consider ix to screen for AI conditions – CRP, ESR, autoantibody screen (incl. thyroid autoantibodies)

Answer 156

o Mast cell mediated (typically IgE mediate) o Histamine induced o Almost always occurs with urticaria within 1-2h of exposure to allergen o Allergens – certain foods (nuts, shellfish, milk, eggs), drugs (NSAIDs, penicillin, vaccines), insect bites, latex, contrast media for radiological ix

Answer 157

o Increased bradykinin levels o Includes non-allergic reactions, hereditary angio-oedema (HAE), acquired angio-oedema (AAE) o Non-allergic reactions • Occur days to months after taking the eliciting drug – most commonly ACEi o HAE • Rare + potentially life-threatening genetic abnormality, AD • Usually presents after puberty • Type 1 HAE – C1-INH plasma protein deficiency  bradykinin overproduction  increase in vascular permeability • Type 2 HAE – normal or elevated levels of dysfunctional C1-INH • Type 3 HAE – affects coagulation factor XII • Most attacks occur spontaneously • Other triggers/ aggravating factors– mild trauma (e.g. dental work), viral illness, cold exposure, stress, pregnancy, ingestion of certain foods + drugs o AAE • Acquire deficiency of C1-INH • Secondary to lymphoma or a connective tissue disorder e.g. SLE (destroys the function of C1-INH) • Usually presents after the 4th decade of life • Similar triggers/aggravating factors as HAE • Idiopathic angio-oedema o Chronic + relapsing o Unknown cause o Thought to be autoimmune – about 30-50% of cases are associate with other autoimmune conditions

Answer 158

• People at risk of anaphylaxis o Co-existing asthma o COPD o Heart disease o People who experienced angio-oedema with trace amounts of an allergen/trigger o People who cannot easily avoid an allergen

Answer 159

• Depends on the type of angio-oedema • Acute allergic angio-oedema o Self-limiting o Most cases will resolve in 1-3 days o Relapses are common + unpredictable o If a cause/trigger can be identified + avoided, angio-oedema can be prevented • Hereditary angio-oedema – lifelong treatment, prognosis depends on the treatment of the underling disorder • Idiopathic angio-oedema – chronic + relapsing cause

Answer 160

* Acute contact dermatitis * Cellulitis * Connective tissue disorders – SLE * Erysipelas – group A strep., facial rash which is well-defined and not fleeting, with associated tenderness + fever * Idiopathic scrotal oedema in children * Lymphoedema – chronic thickening of tissue, unlike the acute stretching seen in angio-oedema * Surgical abdomen

Answer 161

• Severe, life-threatening, generalized or systemic hypersensitivity reaction that is characterized by rapidly developing o airway and/or o breathing and/or o circulation problems o usually associated with skin + mucosal changes • Likely when all of the following 3 criteria are met o Sudden onset + rapid progression of symptoms o Life-threatening A and/or B and/or C problems o Skin or mucosal changes

Answer 162

• Occasionally a biphasic anaphylactic reaction may occur o Life-threatening recurrence of sx after the initial presentation without re-exposure to the trigger o Less likely among people with food-induced anaphylaxis o People who present with hypotension or have idiopathic anaphylaxis may be at increased risk

Answer 163

* Angio-oedema * Asthma * Breath holding episode in a child * Foreign body aspiration * Hypoglycaemia – blood glucose levels <3.5mmol/L * PE * Urticaria * Vasovagal episode – no evidence of airway symptoms * Other conditions – mastocytosis, carcinoid syndrome, scombroid poisoning (from contaminated fish), seizure disorder, septic shock

Answer 164

• Causes around 20 deaths each year in the UK • Approx. 50% of the fatalities are due to circulatory collapse (shock) + the rest are due to respiratory failure (asphyxia) • Death usually occurs shortly after contact with the trigger o Fatal food reactions cause resp. arrest typically after 30 mins o Insect stings – collapse from shock after about 15 mins o IV medication – within 5 mins • Most people who have allergic skin changes do not go on to develop an anaphylactic reaction • Good prognosis with prompt treatment – case fatality ration of <1% • Increased risk of death if there is pre-existing asthma (esp. if poorly controlled) + in asthmatics who fail to use (or delay treatment with) adrenaline • People with previous reactions are at higher risk of recurrence o Risk of suffering a recurrent anaphylactic reaction is 1 in 12 per year • Severity of previous reaction does not necessarily predict the severity of a subsequent reaction

Answer 165

* IgA vasculitis was formerly known as Henoch-Schonlein purpura (the two terms are still used interchangeably in clinical practice) * Most common vasculitis of childhood

Answer 166

``` • Hx of allergy • Winter season • Prior infection o Most cases follow an URTI, esp. streptococcal infections or GI infection less commonly • Medication o Penicillin, cefaclor, minocycline, hydralazine, phenytoin o This is more common in adults • M>F • Age 2-10 years • Peak incidence 4-7 years ```

Answer 167

* Mild nephritis – normal GFR + mild/ moderate proteinuria * Moderate nephritis - <50% crescents on renal biopsy + impaired GFR or severe persistent proteinuria * Severe nephritis - >50% crescents on renal biopsy + impaired GFR or persistent proteinuria

Answer 168

* Renal impairment with deterioration of function * End stage renal disease * CKD * Pulmonary haemorrhage * GI haemorrhage + intussusception * CNS complications – headache + seizures * Ocular complications – keratitis or uveitis, v rare Prognosis • Most cases are self-limiting or resolve with symptomatic treatment within 4 weeks • 1/3 of patients may have recurrence within the first 9 months, but the subsequent episode is generally milder • Recurrences are more common in older patients + those with nephritis • Increasing age at onset is a poor prognostic factor • Low risk of relapse in graft after renal transplantation • Prognosis of CNS complications is good – these complications improve over a variable period of time

Answer 169

• ITP o Low plt in ITP, N in IgAV o ITP – arthralgias + abdominal pain are uncommon • Hypersensitivity vasculitis o Skin biopsy may show leuckocytoclastic vasculitis but no IgA deposition o Usually no renal involvement • Rheumatic fever o Rash is erythema marginatum not palpable purpura o IgAV – predominance of IgA deposition • Meningococcal septicaemia o Child is very unwell o Septicaemia – abnormal coagulation studies, low plt counts o Positive septic screen in septicaemia • HUS o Diarrhoea is common in HUS o HUS – haemolytic anaemia,  reticulocyte counts, low haptoglobin, low platelets o Stool studies abnormal in HUS, normal in IgA • Uncommon in children o Granulomatosis with polyangiitis o SLE o Rheumatoid arthritis • Rash is not a palpable purpura o Polyarteritis nodosa o IgA nephropathy • Rash, abdo pain, arthritis not usually present • Patients between 20-40 years

Answer 170

o There must be palpable purpura, which is not thrombocytopenic/petechiae, and one or more of the following: • Diffuse abdominal pain. • Typical histopathology (leukocytoclastic vasculitis or proliferative glomerulonephritis with predominant IgA deposits). • Arthritis or arthralgia. • Renal involvement (demonstrated by quantified proteinuria or haematuria).

Answer 171

• Birth defect • Urethra is located in an abnormal position on the ventral surface of the penis • Severity can range from o Distal form • Urethral meatus is located in the gland or distal shaft • Typically occurs with incomplete prepuce (foreskin) o To the proximal form • Less common • Urethral meatus is located from the perineum to the proximal shaft • Typically occurs with ventral curvature, cleft scrotum, incomplete prepuce • Megameatus with intact prepuce (a mild variant of distal hypospadias) can occur with an intact prepuce, and is only noted at the time of circumcision or retraction of the prepuce at an older age

Answer 172

* LBW * Premature delivery * Maternal GDM, obesity, hypertension * FHx

Answer 173

• Postoperative o Bleeding o UTI o Wound infection o Balanitis o Dyspareunia – scarred, partially retractable foreskin o Urinary retention – from postoperative penile + urethral pain during voiding o Numbness – decreased sensation to the penile skin, typically improves with time o Fistula, stricture, dehiscence • In patients who undergo urethroplasty for repair of hypospadias • proximal hypospadias – 10-50% complications – consider referral to a surgeon specialising in proximal hypospadias Prognosis • Surgical success rates depend upon the severity of the condition • Distal hypospadias – success rates after a single surger >90% with <10% healing with urethral fistula/stricture or wound dehiscence

Answer 174

• Phimosis = inability to retract the foreskin (distal prepuce) proximally over the glans penis • Congenital phimosis o Expected in children 3y o May be a normal finding up until the age of puberty • Acquired (pathologic) phimosis o Inability to retract the foreskin proximally over the glans penis in postpubertal males or o In patients in whom scarring has developed from chronic infection and inflammation (balanoposthitis) or o As a result of repeated forced retraction of congenital phimosis o Usually a result of chronic inflammation/ repeated infections/ repeated forced retraction of non-retractile skin • Paraphimosis = Condition in which the foreskin of the penis retracts proximal to the coronal sulcus (glans penis) + becomes fixed in position • Congenital phimosis o Expected in children 3y o May be a normal finding up until the age of puberty

Answer 175

``` Phimosis • Forced retraction of the foreskin • Parental unawareness • Penile trauma incl. piercings • Balanitis xerotica obliterans • Recurrent balanitis + balanoposthitis o Recurrent episodes of balanitis or balanoposthitis -  risk of developing cicatrix, contributing to pathological phimosis o In adults, concealed penis may lead to balanitis, which in turn leads to more scar tissue + worsening of the disease process • Prolonged erection ``` Paraphimosis – most often iatrogenic • Uncircumcised penis • Indwelling urinary catheter • Recent penile examination or procedure

Answer 176

• Keratin pearls o Occur sporadically as preputial cysts break through adhesions to allow separation of the prepuce from the glans o Sterile collections of desquamated skin Paraphimosis • Penile necrosis if untreated – firm, discoloured glans • UTI, balanitis o With inadequate hygiene with phimosis o Less likely to occur in congenital phimosis • Postoperative o Bleeding o UTI o Wound infection o Balanitis o Dyspareunia – scarred, partially retractable foreskin o Urinary retention – from postoperative penile + urethral pain during voiding o Numbness – decreased sensation to the penile skin, typically improves with time o Rarely, adhesions or scarring can recur following circumcision or preputioplasty and cause inability to fully retract the foreskin from the glans • Penile malignancy o Acquired/pathological phimosis + balanitis xerotica obliterans  RF for the development of squamous cell carcinoma of the penis * Congenital phimosis resolves spontaneously in almost all of the patients * Recurrence possible if patient uncircumcised * Acquired/pathological phimosis + balanitis xerotica obliterans  RF for the development of squamous cell carcinoma of the penis

Answer 177

• Balanoposthitis o Inflammation of the glans penis + prepuce without constrictive foreskin • Encircling foreign body (e.g. hair, thread) o Can lead to distal swelling and oedema, similar to paraphimosis

Answer 178

``` • MEN-1 o AD disorder o Pituitary adenoma o Parathyroid hyperplasia o Pancreatic tumours o Facial angiofibromas seen in about 80% of MEN-1 patients ```

Answer 179

• Chronic renal failure o Renal complications are second only to CNS complications as a cause of significant morbidity o Serious renal compromise occurs in <5% of patients overall • Lymphangioleiomyomatosis o Pulmonary HTN o Cor pulmonale o Interstitial fibrosis o Restrictive lung disease o Chronic respiratory failure • SEGAs – if untreated, some lesions may grow into the ventricular system or into the adjacent frontal lobes + optic chiasm • Intracranial haemorrhage – if an intracranial aneurysm ruptures • Anxiety + depression • Sleep disturbance – sedative effects of concurrent anticonvulsant drug therapy + epileptic seizures • Sudden death – by epileptic seizure or cardiac arrhythmia • Social, occupational and forensic problems • 80-90% will require chronic epilepsy management • 50-60% will have cognitive behavioural problems • TSC- associated neuropsychiatric disorders o In patients with both TSC + ASD there is a 75% prevalence of cognitive impairment + a 75-100% prevalence of concurrent epilepsy • A greater number of cortical tubers correlates with greater cognitive/behavioural impairments

Answer 180

Definition • AD, neurocutaneous, multi-system disorder • Characterised by cellular hyperplasia, tissue dysplasia, multiple organ hamartomas Aetiology • 2 genetic loci o TSC1 found on chromosome 9q31 – encodes hamartin o TSC2 found on chromosome 16p13 – encodes tuberin • Clinical phenotype can result from a mutation in either of these genes o These genes are tumour suppressor genes o Hamartin-tuberin complex binds to a protein called mechanistic target of rapamycin or mTOR • mTOR speeds up the cell cycle + increases cell proliferation o when mTOR is switched off by the hamartin-tuberin protein complex it slows growth + division of cells throughout the body o if TSC1 or TSC2 are mutated – altered hamartin-tuberin protein complex – unable to switch off mTOR – benign tumours + growths called hamartomas form throughout the body • hamartomas – tumours made of a variety of cell types from the tissue where they arise, rather than a single cell type • in TSC the tissues affected are brain, skin, kidneys, lungs • 1/3 of people with TSC have AD inheritance • 2/3 of cases are due to sporadic mutations

Answer 181

``` Sterile inflammation in joints 2 weeks after extra-articular infection Especially urogenital (chlamydia, HIV) + GI infections (salmonella, shigella, campylobacter) ``` Pt may have an antecedent infection 1-4w before onset Sometimes called “Reiter’s syndrome” – joint inflammation(oligoarthritis), urethritis (UTI), conjunctivitis (uveitis) “Can’t see, can’t pee, can’t climb a tree” * Young adults (M>F, 20-40), white * HLA-B27 genotype * Preceding chlamydial or GI infection – particularly Chlamydia, Campylobacter jejuni, Salmonella enteritidis, Shigella, Yersinia Molecular mimicry: appropriate immune response against antigens on a pathogen, Ab can cross react with self-tissue * HLA-B27 (genetic predisposition) + environmental trigger (e.g. salmonella infection), Class 1 * Can be the first manifestation of HIV/Hep C infection * Differentiate from rheumatoid – you wouldn’t normally see enthesopathy + eye inflammation in RA, polyarthritis in RA

Answer 182

* Secondary osteoarthritis – inflammatory arthritis can lead to cartilage destruction + bony erosions with esultant secondary osteoarthritis * Iritis/uveitis – painful blurry vision with photophobia and eye redness – ophthalmic CS * Keratoderma blennorrhagicum – topical CS * For 50% of patients symptoms resolve within the first 6 months * 30-50% will develop chronic ReA

Answer 183

* Ankylosing spondylitis – symmetrical * Psoriatic arthritis – DIP more commonly affected * Rheumatoid arthritis – symmetrical polyarthritis commonly affecting the small joints of the hands + feet, does not affect the lumbar spine or sacroiliac joints * Rheumatic fever – URTI before the onset of arthritis, arthritis involves both upper + lower extremities, no involvement of the axial spine incl. the Sacro-iliac joints * IBD associated arthritis * Gout – DIP involvement, tophi (e.g. in the pinna of the ear) * Septic arthritis – affects single joints in most cases – swollen, red, warm, fever * Post-viral arthritis – rheumatoid like distribution (symmetrical small joint polyarthritis), may have maculopapular rash * Lyme arthritis – lyme disease produces a characteristic rash called erythema migrans at the site of the tick bite

Answer 184

* Self-limiting inflammatory disorder of the hip that commonly affect young children * Also known as irritable hip * Hx of URTI in the days/weeks prior to episode * Commonly affects young children between 2-12 years of age * M>F • Probably due to temporary inflammation 2o to viral URTI

Answer 185

* Legg-Calve-Perthe’s disease – there might be an association * Resolves after a few days * Benign course, recurrence uncommon * Close follow-up, if pain worsens or persists >7-10 days re-evaluate diagnosis * May be the presenting feature of a chronic inflammatory condition in 10% of children with recurring episodes

Answer 186

• Septic arthritis o Most important dx to exclude o Severe pain, child unable to walk o Any hip motion is painful, even through a small arc of motion o Four independent clinical predictors that differentiate bn septic arthritis + transient synovitis – fever >38.5oC, non-weight bearing, ESR >40 mm/h, WBC >12,000 cells/mm3 – these would suggest septic arthritis • Lyme arthritis o Monoarticular or oligoarticular o Large joints o Large knee effusions are common resolving in a few weeks to a few months if untreated • Osteomyelitis o Child appears ill, fever, pain with ambulation o Joint motion will be less restricted • Legg-Calve-Perthes disorder o Children, M>F o Limp that occurs over weeks to months o XR – joint space widening (early), femoral head collapse (late) o Normal labs • Juvenile idiopathic arthritis o for dx to be made, child must have had objective arthritis in the joint for at least 6w o there may be stiffness on walking or after periods of inactivity o in certain subtypes the child may have spiking fever, salmon-coloured rash over the trunk + proximal extremities, uveitis, rheumatoid nodules on extensor surfaces of tendons • Pyogenic sacroiliitis – pain +/or tenderness over the sacroiliac joints

Answer 187

Infection of one or more joints producing inflammation (native or prosthetic joint) It can be acute or chronic * Can either occur by direct inoculation or via haematogenous spread * Commonly caused by bacterial infections * Pathogens release metalloproteinase enzymes that rapidly degrade articular cartilage – irreversible ``` Most frequent pathogen: Staphylococcus aureus (>30 years) Neisseria gonorrhoea (<30 years) Hemophilus influenza (children) ``` Common in elderly + immunosuppressed RF: age, DM, prior joint damage/surgery, hip/knee prosthesis, gout, RA, immunodeficiency e.g. HIV, recent steroid injection, STD (gonococcal infection), IVDU • Sexual activity – gonococcal septic arthritis, young people • Prosthetic joint • Immunosuppression – HIV, IVDU, DM, alcohol misuse, immunosuppressive medication • Contiguous spread – ulcerated skin or skin infection – can lead to bacteraemia + subsequent seeding of infection in a joint • Haematogenous spread – UTI, skin infection, IVDU etc • Iatrogenic – previous intra-articular CS injection, recent joint surgery • Exposure to tics – Lyme arthritis Regard a hot, swollen, acutely painful joint with restriction of movement as septic arthritis until proven otherwise, even in the absence of fever + irrespective of microbiology + blood test results

Answer 188

* Antibiotic-associated allergic reaction * Osteomyelitis – if infection is not controlled it may spread into surrounding bone – MRI will highlight any areas of surrounding osteomyelitis – seek orthopaedic + infectious disease consultant if this occurs * Joint destruction * Pain usually reduces quickly with correct treatment * Allow about 48h for the effectiveness of treatment to be reflected in some ix results * Destruction of the articular cartilage begins quickly and is secondar to proteolytic enzymes + impairment of intra-capsular vascular supply * Delayed or inadequate treatment can lead to irreversible joint destruction + subsequent disability * Poor prognostic factors – older age, pre-existing joint disease, presence of a joint prosthesis

Answer 189

* Osteoarthritis * Psoriatic arthritis * Rheumatoid arthritis * Gout/pseudogout * Hemarthrosis – known hx of bleeding diathesis * Trauma * Bursitis – swelling external to the joint – joint itself will move freely + painlessly * Cellulitis – erythematous skin overlying joint, joint itself will be unrestricted * TB extrapulmonary * Lyme arthritis – erythema migrans, migratory joint pains, later intermittent oligoarthritis usually involving the knee or other large joints

Answer 190

• Slippage between neck + head of femur • Adolescence • Occurs when weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis • Fracture in the growth plate results in slippage of the neck of the femur and the overlying head of the femur (capital/epiphysis) • Perichondrial ring becomes too weak to resist the shearing forces between the femoral head and the femoral neck, causing the 2 to gradually slip away from each other • It is not the epiphysis that slips away, as the name of the disease suggests o Epiphysis is held in the acetabulum by the joint capsule + ligamentum teres • In reality, it’s the neck/metaphysis that displaces anterolaterally + superiorly, which make it look like the epiphysis has slipped down + backwards

Answer 191

That cause weakness in the growth plate • Obesity (weight >90th percentile)  shear stress on epiphysis-physis junction, weakens physis) • Endocrine disorders – Hyperthyroidism, panhypopituitarism, hypothyroidism, renal osteodystrophy • Period of rapid growth in adolescence • FHx of disease • Most common hip disorder in the adolescent age group o 11-12 F o 12-13 M • Occurs bilaterally in 60%

Answer 192

• Severe displacement can tear the epiphyseal blood vessels and lead to avascular necrosis of the femur • Late deformity o Disabling external rotation deformity persists in some patients, causing gait disturbance and femoro-acetabular impingement – this in turn leads to pain + restricted range of motion at hip • Chondrolysis o Acute dissolution of articular cartilage in association with progressive joint stiffness + pain o Can occur in untreated SCFE but usually occurs as a complication of treatment o Hp, thigh, knee pain associated with hip joint stiffness • SCFE in the contralateral hip • Osteonecrosis – hip, thigh or knee pain, restricted range of motion of the hip

Answer 193

``` • Hip fracture • Avascular necrosis o Age of onset 30-50, features of underling disorder may be present (e.g. SLE, Cushing’s) o Can result from SUFE • Legg-Calve-Perthe’s disease o Similar clinical features o <10y o Plain XR – sclerosis, cysts, collapse of the femoral head • Hip dysplasia o Shortening of the involved leg, decreased hip abductin • Osteomyelitis o May have at-rest or night pain o Constitutional symptoms often present • Septic arthritis • Ankylosing spondylitis o Young to middle aged men o Bilateral hip involvement common o Symptoms worse in the morning + improve during the course of the day o Low back + sacroiliac joints also frequently affected • Stress fractures ```

Answer 194

• A malignant tumour arising from the embryological neural crest element of the PNS • Commonly arises from the adrenal gland(s) but can form anywhere that sympathetic nervous system is present, incl. paraspinal sympathetic ganglia in the chest and abdomen • The term neuroblastoma is commonly used to describe a spectrum of neuroblastic tumours incl. neuroblastomas, ganglioneuroblastomas, ganglioneuromas • Oncogenes implicated in the development of the neural crest and also in neuroblastoma – MYCN, ALK, PHOX2B RF • PMH – Turner’s, Hirschsprung’s, congenita central hypoventilation syndrome, NF T1 • FH of neuroblastic tumours or genetic predisposition

Answer 195

Neuroblastoma

Answer 196

o Cardiotoxicity – anthracyclines (e.g. doxorubicin) have been associated with arrhythmias, cardiomyopathy, CHF – patients treated with these agents should be monitored (ECG, echo), during and after completion of treatment o Renal impairment  Mainly platinum compounds or cyclophosphamide  Typically mild and patients do not generally progress to chronic renal failure  Monitor serum creatinine/urea during treatment  If elevated, dose modification may be required o Ototoxicity  Platinum related ototoxicity (e.g. tinnitus, hearing loss/deafness)  Can occur in up to 70% of patients with high-risk disease  Can be unilateral or bilateral, Irreversible  All patients should have audiometric testing at baseline + before each dose + 1 yea fter completion of therapy o Future infertility o MSK abnormalities o Osteoporosis o Endocrine complications – delayed growth, hypothyroidism, ovarian insufficiency, diabetes, hypogonadism o Secondary malignancies – chemo + radiation  the risk of secondary malignancies – leukaemia, myelodysplastic syndrome, osteosarcoma • Tumour lysis syndrome o Rarely develops in patients with a high disease burden after starting chemotherapy o Monitor serum electrolytes • Focal nodular hyperplasia o Benign tumour of the liver, usually asymptomatic + rarely grows o Can either be as a result of the condition or its treatment o CT or MRI scan of liver is diagnostic, conservative management • Spinal cord compression • Opsoclonus-myoclonus ataxia o Paraneoplastic syndrome associated with neuroblastoma o Rapid, dancing eye movements, rhythmic jerking of limbs/trunk, ataxia o Approx. 2% of neuroblastoma patients will develop OMA Prognosis • Excellent for patients with low-risk disease o Survival rate of nearly 100% among infants treated with observation alone o A portion of these patients will have disease progression following surgery, but they are able to be salvaged with ether surgery and/or chemotherapy + achieve overall survival rates comparable to similar patients who did not progress • 50-90% 5 year survival • Early 60% of patients who complete therapy will relapse • Poor for those with high-risk disease (Relapsed or refractory) • Cure rates for children with metastatic disease is around 40% • Long term sequelae o Low risk – minimal long-term sequelae • Treatment related adverse effects may have long-term implications

Answer 197

• Wilm’s tumour o Hamaturia, presence of a symptom o CT/MRI Renal mass with renal parenchyma stretching around the tumour (claw sign) • Ewing’s sarcoma • Rhabdomyosarcoma o Presents in a similar way to neuroblastoma o Most common primary sites are the extremities + the genitourinary system • Hepatoblastoma • Leukaemia o Fever (rare in patients with neuroblastoma) o Hepatosplenomegaly • Hodgkin’s lymphoma o Adolescents or young adults, lymphadenopathy, B symptoms o Reed Sternberg cells on lymph node biopsy • Adrenal haemorrhage o May occur in neonates as a result of delivery trauma, infection, other causes o Signs of adrenal insufficiency may be present o Rapid improvement in several weeks on serial US • Other adrenal tumours • Infections

Answer 198

* Rare, only 100 cases annually in the UK * Commonest cancer in the first year of life * Most common extracranial solid tumour in children * Majority of patients diagnosed by 5 years of age, nearly all by the time they are 10 * Median age at diagnosis – 18m

Answer 199

* Intraocular tumour * Can be unilateral or bilateral Aetiology • In 30-40% of cases is accompanied by a germinal mutation in the RB1 gene o This gene carries an associated increased risk of secondary non-ocular tumours ``` Risk factors • Can be familial or spontaneous • RB1 gene mutation • Positive FHx in 10% • 13q syndrome (children who have a large deletion on the long arm of Chr 13) ``` Epidemiology • The most common malignant intraocular tumour in children • 90% of patients are <3y at time of dx • Average age of dx – 18 m • Very rare, around 50 cases per year in the UK

Answer 200

``` • Intra-arterial chemo – intra-retinal haemorrhage + vascular occlusion • External beam radiation o Cataract formation o Periorbital redness, oedema, dry eyes o Temporal bone hypoplasia • After carboplatin therapy o Fibrosis of extraocular muscles o Optic nerve atrophy • Secondary malignancy ``` Prognosis • Most patients are cured (90%) • Almost 100% 5 year survival rate • Many will be visually impaired • Significant risk of secondary malignancy (esp. sarcoma) among survivors of hereditary retinoblastoma • 10 year survival is 99% in resource-rich countries • Resource poor countries o Typically present with extraocular extension or metastatic disease with a dismal prognosis • Enucleation  >99% of patients with unilateral retinoblastoma without micro/macroscopic extraocular disease are cured • External beam radiation  increased patient mortality due to secondary cancers occurring at a rate of 0.5-1% per year

Answer 201

• Retinopathy of prematurity o Generally occurs in premature children given high-dose oxygen o Can result in total retinal detachment o Fundus – gliotic appearing retina, which is different from the retinal detachment associated with retinoblastoma • Congenital cataract o Presents at birth o Lens opacification (rare in retinoblastoma) o US  echogenicity of lens • Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous) o Micro-ophthalmic eye (small, malformed eye, short axial length) o O/E dragging of ciliary processes o Often associated with a cataract (rare in retinoblastoma) o Congenital (retinoblastoma uncommonly presents at birth) • Astrocytic hamartoma o Grey-white retinal tumour associated with tuberous sclerosis o Associated with other neurological and skin findings not characteristic of retinoblastoma • Medullo-epithelioma o Congenital + unilateral o Characterised by mass in iris/anterior chamber/ciliary body o Can cause cataract or lens notch

Answer 202

• Most common form of renal malignancy in childhood ``` Aetiology • Embryonal tumour • May be inherited or occur sporadically • Inactivation of o WT1 gene at 11p13 locus o WT2 gene at 11p15 locus ``` ``` Risk factors • Risk  in certain o Congenital overgrowth syndromes -t18, o Congenital non-overgrowth syndromes o Congenital urogenital anomalies – hypospadias, ambiguous genitalia, cryptorchidism • FHx ``` Epidemiology • Usually occurs in the first 2-5 years of life (bmj), 1-3 years (NICE CKS) • 5% have bilateral disease • Very rare (<50 cases occur in the UK annually)

Answer 203

• Pancytopenia • Anaemia • Renal failure o Rare o May occur in patients with extensive bilateral disease o Some patients may require dialysis or renal transplant • Acquired von Willebrand disease o Rarely associated with newly diagnosed Wilm’s tumour o Usually remits during or following therapy for tumour o Majority of patients have no bleeding or minimal bleeding and do not require treatment • Treatment related complications o Hepatotoxicity o Interstitial pneumonitis o Haemorrhagic cystitis o Infertility o Secondary malignancies o Intra-operative tumour spill – right sided + larger tumours are at higher risk of this complication Prognosis • Localised disease – 90% 5 year survival • >80% of patients are cured • Metastatic disease occurs in <10% of patients • Increased risk of treatment-related morbidity + mortality 25 years from dx • Recurrence rates are low – prognosis with patients with recurrence is poor

Answer 204

• Neuroblastoma • Clear cell sarcoma of kidney • RCC – pt usually older at presentation • Polycystic kidney disease o AR can present with renal failure in earl infancy o AD usually presents in adulthood + may present with anuria + renal failure o HTN • Phaeochromocytoma o Older children 6-14 o Palpitations, diaphoresis, nervousness, anxiety, paroxysmal hypertension, tachycardia, tremor • Burkitt’s lymphoma o Mean age of presentation is 7 years o Ascites, generalised lymphadenopathy, pancytopenia, tumour lysis syndrome • Malignant rhabdoid tumour of the kidney (RTK) o <2 years old, M>F o High incidence of mets at dx – bone pain, diagnosis o Neurological deficits secondary to metastatic disease (10-15% of RTK patients develop CNS lesions)

Answer 205

* Incomplete descent of one or both testes from the abdomen through the inguinal canal, with a resultant absence from the scrotum * When one or both testes are not present within the dependent portion of the scrotal sac • Undescended testis is the second most common paediatric surgical condition after inguinal hernia Classification • True undescended testis o Testis lies along the normal path of descent in the abdomen or inguinal region o Never previously been present in the scrotum • Ectopic testis o Testis lies outside the normal path of descent and outside the scrotum e.g. in the femoral region, perineum, penile shaft, opposite hemiscrotum • Ascending testis o Testis has previously been present in the scrotum but has moved to a higher position over time and no longer lies in the scrotum o May be due to a persisting processus vaginalis – prevents elongation of the testicular vessels + vas deferens, causing secondary ascent of the testis – this is also a possible complication of inguinal hernia surgery in children • Absent or atrophic testis o Testis may be missing or vanishing (seen in scrotum but later disappears), causing a non-palpable testis o Possible mechanisms – testicular atrophy after intrauterine torsion, agenesis due to failed development of the testicular blood supply

Answer 206

• Not fully understood, most affected infants + boys have no identifiable cause for the condition • It may be due to a disruption in the hormonal control of testicular descent during fetal development o Normal testicular descent occurs in 2 stages, with the initial transabdominal please controlled by a testicular hormone and the inguinoscrotal phase controlled by androgens o If the first phase fails, the testis remains intra-abdominal o The second phase involved a complex process of migration from the inguinal abdominal wall to the scrotum and is more commonly disrupted, which leads to the testis remaining between the deep inguinal ring and the scrotum • Rarely, it may be associated with a disorder of sexual development o Chromosomal abnormalities that cause congenital hypogonadism + lack of androgen production o Mutations of the androgen receptor gene resulting in androgen insensitivity ``` RF • FHx of cryptorchidism • Prematurity o Descent of the testis from the inguinal region into the scrotum generally occurs during 24-35 weeks of gestation o Cryptorchidism at birth may resolve in many of these infants when adjusted for GA • LBW (<2.5kg) +/or SGA • Endocrine disorders e.g. CAH • Disorders of sexual development • Maternal smoking • Increased risk of ascending testis in o Previous inguinal hernia surgery o A hx of retractile testis ```

Answer 207

• Impaired fertility o Scrotum  lower temperature, allows normal testicular physiology after birth o Undescended testes in abdomen/inguinal canal/ groin  higher temperature, may result in germ cell damage which affects their transformation into stem cells for subsequent spermatogenesis and may result in reduced fertility rates • Testicular cancer (2-3% risk) o Bilateral undescended testes > unilateral undescended testis o Risk is higher in those with intra-abdominal testes o in particular, there is an increased risk of testicular seminomas (germ cell tumours) in young men with a hx of congenital undescended testes • Testicular torsion • Inguinal hernia • Orchidopexy o Postoperative testicular atrophy (<1%) o Re-ascent of testicle o Vas deferens injury o Wound infection or dehiscence o Haematoma o Anaesthetic complications • Delayed or lack of treatment has been associated with a higher incidence of testicular cancer + reduced fertility from the affected testis o Rates of malignancy are increased nearly 6x in patients who undergo late surgical correction or do not undergo correction of cryptorchidism compared to patients who undergo early orchidopexy o Risk of malignancy  Bilateral > unilateral  The higher the testis is in the abdomen, the higher the risk appears to be • Orchidopexy – 88-100% success rates, low rates of recurrence

Answer 208

• Differences of sex development o Karyotype + 17-hydroxyrogesterone levels needed o Hcg stimulation test – no increase in testosterone, along with elevated basal levels of gonadotrophins signifies that the testes are absent o A phenotypic 46XY male with bilateral non-palpable tests has anorchia if inhibin + Mullerian inhibiting substance (MIS) levels are undetectable and FSH is elevated (hcg stimulation test + surgical exploration are not necessary) • Female with CAH o May present with a phallic structure and presumed bilateral undescended testicles o  serum 17-hydroxyprogesterone +  serum testosterone

Answer 209

* AD * Often thought of as the male Turner’s * Defect in a gene on Chr 12 * Gain of function mutations in genes in the Ras/mitogen-activating protein kinase (MAPK) signal transduction pathway * Most commonly identified genetic mutation involves PTPN11 * Normal karyotype RF • FHx

Answer 210

• Failure to thrive – self-limiting, poor wright gain may persist for up to 18m • Hearing loss o Usually 2o to otitis media – aggressive treatment of otitis media may prevent this • Ophthalmic abnormalities • Leukaemia, Solid tumours • Learning difficulties • Seizures • MSK problems – scoliosis, muscle weakness, pectus anomalies • AI disease • Majority of patients lead normal lives • Dependent on type + severity of cardiac disease which may occur in 50-80% of cases

Answer 211

Noonan syndrome

Answer 212

Noonan syndrome

Answer 213

• Trisomy 21 • Standard trisomy 21 95% • Robertsonian translocation 4-5% • Mosaic 1% • Advanced maternal age (most significant RF) • Previous child with DS • Parental karyotype with a translocation o Translocation 21q21q o Both men and women can pass the genetic translocation for Down syndrome on to their children if they are carriers of the translocation • Most common genetic cause of cognitive or intellectual disability • 1 in 691 births

Answer 214

• Short stature – shorter limbs • CHD • Congenital GI disorder – duodenal/anal stenosis, duodenal/anal atresia, hirschsprung’s disease, coeliac disease • Constipation – due to hypotonia, gross motor delay o Hirschsprung’s – if hx of constipation not responding to diet change or stool softeners • Hypothyroidism (16-20%) • Skin disorders – fine, hypopigmented hair, seborrheic dermatitis • Dental anomalies – average age of eruption of the first tooth is bn 12-20m compared to 6m in typically developing children • Feeding difficulty – due to hypotonia, small mouth, small nares o Lack of oral-motor coordination may delay the introduction of solid foods • Obesity • OSA (30-60%) – noisy breathing, restless sleep, frequent night awaking, daytime sleepiness • Respiratory infections – their immune system develops more slowly – higher incidence of URTIs, chronic middle ear effusions, chronic otitis media • Hearing loss (mostly conductive) due to their anatomical anomalies (mid-face hypoplasia, easily collapsible eustachian tube, small external ear canal) • Visual abnormalities – Congenital cataracts, strabismus • AML o Infants might be born with transient myeloproliferative disorder (form of leukaemia) – most infants recover on their own but 20-30% of these cases will later be diagnosed with acute megakaryocytic leukaemia (AMLK) which is a subtype of AML o Median onset of AML 2 years (compared with 8 years in the general population) • ALL o After 3 years ALL occurs more frequently o Most cases occurring by age 6 • Intellectual disability • Behavioural problems • Atlanto-axial instability – sx of myelopathy (1-2%) – neck pain, neck stiffness, arm/leg weakness, change in gait, loss of prior bowel/bladder control, changes in head positioning/torticollis, spasticity or change in tone, radiculopathy, hyperreflexia • Joint dislocations due to ligamentous laxity, low muscle tone • Dementia/AD – neuropathological changes seen bn 35-45, average age of onset 51-54, not all patients • Subfertility – males are almost always infertile due to impaired spermatogenesis • Low likelihood – epilepsy (8%), ASD (1-13%), myeloproliferative disorder (10%, resolves within 3 months), depression in adulthood (11%)

Answer 215

* Average life expectancy – 50-60 * Higher frequency of congenital + acquired medical conditions incl. CHD, audiological, vision, GI, haematological, thyroid issues * To maximise the potential of a person with DS it is critical to provide early interventional therapies, educational resources, optimal community involvement and ongoing medical screening + treatment where appropriate * Menarche at about 12.5 years * Women with DS can become pregnant and their offspring will have a 50% chance of having DS

Answer 216

All the following would present with normal karyotype • Isolated hypotonia • Congenital hypothyroidism – poor feeding, poor growth, hypotonia, constipation, dry skin, fatigue

Answer 217

``` • Chromosomal disorder • 45 XO • Phenotypically female • Partial or complete absence of the second sex chromosome 1 in 2500 ```

Answer 218

• Congenital cardiovascular defects constitute the major source of premature mortality • Aortic dissection • Increased incidence of autoimmune disease • Common conditions o T2DM o Hashimoto’s thyroiditis > Grave’s disease o Dyslipidaemia o Coeliac disease, Crohn’s o Hepatitis o Renal structural abnormalities – horseshoe or single kidney, duplicated collecting system • Essential HTN • Hearing loss – recurrent otitis media due to short eustachian tubes – conductive hearing loss, cholesteatoma • POI – infertility, osteoporosis o Most women with Turner’s are infertile but spontaneous menses + pregnancies may occur in 2-3% • Severe premature osteoporosis if not using HRT in POI • Increased morbidity and mortality due to complications of CHD, IHD, DM, osteoporosis • To improve prognosis o Initiation of preventative treatments o Appropriate oestrogen therapy o Healthy diet and exercise o CV = Statin treatment for individuals with high risk IHD and surveillance + treatment of CHD

Answer 219

``` • Constitutional delay of growth and development o Clinical dx o FSH not elevated, AMH not low o Bone age slightly delayed • Noonan’s syndrome o Distinguishing features for Noonan’s – hypertrophic cardiomyopathy, PS, triangular facies, prominent chest wall deformity, mental retardation o Normal karyotype • Complete androgen insensitivity o Genetic defect in androgen receptor o Phenotypically female, primary amenorrhoea because no uterus o 46XY,  testosterone • 46XX gonadal dysgenesis o Genetic defects in ovarian development o Primary amenorrhoea o  FSH, AMH • 46XY complete gonadal dysgenesis o Phenotypic female o Genetic defect in testis development o  FSH, LH ```

Answer 220

Turners syndrome

Answer 221

Turners syndrome

Answer 222

* Involuntary wetting during sleep * Normal in children <5y * Most children are dry by day + night by the age of 5 * Children are dry by day only by the age of 4 DSM-V definition = involuntary wetting during sleep, at least 2ice a week, in children >5 with no congenital or acquired defects of the CNS Classification • Primary bedwetting without daytime symptoms o Child has never achieved sustained continence at night o Does not have daytime symptoms • Primary bedwetting with daytime symptoms o Child has never achieved sustained continence at night o Has daytime symptoms – urgency, frequency, daytime wetting, abdominal straining or poor urinary stream, pain on passing urine, passing urine <4x a day • Secondary bedwetting o Bedwetting occurs after the child or young person has been previously dry at night for >6m

Answer 223

• Primary bedwetting without daytime symptoms o Sleep arousal difficulties – inability to wake to noise, the sensation of full bladder or bladder contractions o Polyuria – larger than normal production of urine at night that typically exceeds the nocturnal bladder capacity o Bladder dysfunction – OAB, small bladder capacity • Primary bedwetting with daytime symptoms o OAB o Structural abnormalities (e.g. ectopic ureter) o Neurological disorders (e.g. neurogenic bladder secondary to spinal dysraphism) o UTI o Chronic constipation • Secondary bedwetting o DM, UTI, constipation o Psychological problems (e.g. behavioural or emotional problems) o Family problems (e.g. vulnerable child or family)

Answer 224

* FHx * Male * Developmental delay (physical or intellectual) * Constipation, faecal incontinence, daytime urinary incontinence * Psychological or behavioural disorders – ADHD, ASD, anxiety depressive + conduct disorders * Sleep apnoea + upper airway obstructive symptoms ``` Epidemiology • 5-10% at 7 years of age • 1-2% in adolescents o 2-3% of 12–14-year-olds o 1-2% >15-year-olds • M>F ```

Answer 225

Complications • Impact on emotional + social wellbeing, behaviour o Guilt, shame, humiliation, victimization, loss of self-esteem o Helplessness, lack of hope or optimism o May feel different from other children o Avoid social activities e.g. sleepovers, school trips o Higher than average levels of oppositional behaviour and conduct problems • Stressful for parents or carers o Extra cost – extra laundry, bed sheets, mattress replacement, pull ups o Risk that a minority of parents may punish the child (incl. physical punishment) Prognosis • Most children who have bedwetting without daytime symptoms become continent by adolescence • Resolves spontaneously in 5-10% of affected children each year • Mean age of night dryness – 4y, day dryness – 3.5y • Frequent bedwetting is less likely to resolve spontaneously than infrequent bedwetting – Spontaneous resolution is thought to be much rarer in children who wet the bed most nights and not just sporadically

Answer 226

* Temperature >38oC | * Reported parental perception of fever should be considered valid + taken seriously by HCP

Answer 227

``` Meningococcal disease Bacterial meningitis Herpes simplex encephalitis Pneumonia UTI Septic arthritis/ osteomyelitis Kawasaki disease Imported infections ```

Answer 228

• Microvascular complications o Nephropathy o Retinopathy  progressive loss of vision + possible blindness o Neuropathy • Macrovascular complications – atherosclerosis, CVD, MI, HF, stroke, PAD • Metabolic complications – DKA, hypoglycaemia • Other autoimmune conditions – Graves’ disease, Hashimoto’s thyroiditis, autoimmune gastritis, pernicious anaemia, coeliac disease, vitiligo, Addison’s disease • Psychological complications o Anxiety, depression o Greater risk of emotional and behavioural difficulties o Increased risk of eating disorders • Infections + other skin complication • Reduced QOL • Reduced life expectancy • Rare complications o Juvenile cataracts o Necrobiosis lipoidica o Addison’s disease • Coeliac disease

Answer 229

* Metabolic disorder * Random plasma glucose >11mmol/l * Hypoglycaemia – blood glucose levels <3.5 mmol/l • Persistent hyperglycaemia o Fasting plasma glucose level >7 mmol/L o Random plasma glucose >11.1 mmol/l in the presence of symptoms or signs of DM fasting = (eat or drink nothing except water for 8-12h before test)

Answer 230

• Obesity • Physical inactivity • FHx o 15% if one parent has T2DM o 75% if both parents have T2DM • Ethnicity – Asian, African, afro-Carribean • Diet – low-fibre, high glycaemic index o High GI foods contain carbohydrates that are broken down quickly + case a rapid  in blood glucose levels such as sugary foods + drinks, white rice, white bread, potatoes • Drug treatments – statins, CS • PCOS • LBW – PTL <35w • Metabolic syndrome = HTN + dyslipidaemia + fatty liver disease + central obesity + tendency to develop thrombosis

Answer 231

Neonatal to 3 months Group B Streptococcus: usually acquired from the mother at birth. More common in low birth weight babies and following prolonged rupture of the membranes E. coli and other Gram -ve organisms Listeria monocytogenes 1 month to 6 years Neisseria meningitidis (meningococcus) Streptococcus pneumoniae (pneumococcus) Haemophilus influenzae ``` Greater than 6 years Neisseria meningitidis (meningococcus) Streptococcus pneumoniae (pneumococcus) ```

Answer 232

* A primary osseous malignant neoplasm composed of mesenchymal cells producing osteoid and immature bone, even if only in small amounts * The most common non-haematological primary malignancy neoplasm of bone n children and adolescents

Answer 233

• Radiotherapy • Familial retinoblastoma syndrome • Paget’s disease • Li-Fraumeni syndrome o Results from germline mutations in the p53 tumour suppressor gene o Patients have an increased risk of developing numerous malignancies incl. breast, soft tissue, brain, adrenocortical, bone • Can affect any age • One of the most common cancers in children, teenagers, young people • Usually patients in the 20-30s o (a bone lesion in an older patient with aggressive radiological features should be considered a metastasis until shown otherwise) • Peak incidence – 13-16 years • M>F

Answer 234

• Osteomyelitis – fever,  ESR, CRP, hx of recent trauma with open fracture • Osteoblastoma o Benign osteoid-producing tumour o Roughly same age + sex distribution as osteosarcoma o Pain of long duration • Depending on the age group, all other causes of acute limp (see PACES case)

Answer 235

• Radiation related secondary sarcoma • Chemotherapy adverse effects o Methotrexate -  serum aminotransferases, acute renal failure (most important adverse effect, delays drug clearance, can lead to systemic toxicity), N, V, stomatitis, neurological toxicity (acute/subacute encephalopathy), hypersensitivity pneumonitis o Doxorubicin – cardiotoxicity, alopecia, N, V, discolouration of bodily fluids, anaemia, leukopenia, thrombocytopenia o Ifosfamide – CNS toxicity, encephalopathy, alopecia, N, V, myelosuppression, haematuria • Local recurrence • Lung metastases o Primary site of mets o Can be present at initial dx or usually occur in the first 2-3 years post therapy o Aggressive surgical resection with clear margins of every lung nodule • Bone metastases o Harder to treat than lung mets ``` Prognosis • 62%, 75-80% 5 year survival rates • 5-7% likelihood of local recurrence • Poor prognostic factors o Detectable primary mets. o Poor histological response to preoperative chemo ```

Answer 236

o Bacteriuria + fever >38oC | o Bacteriuria + Loin pain/tenderness + fever <38oC

Answer 237

o >2 episodes of UTI with acute pyelonephritis/ upper UTI or o 1 episode of UTI with acute pyelonephritis/ upper UTI + >1 episodes of UTI with cystitis/ lower UTI or o >3 episodes of UTI with cystitis/ lower UTI

Answer 238

• E. coli – 85-90% of paediatric UTIs • Proteus mirabilis – 30% of boys with uncomplicated cystitis • Other organisms o Adolescents – Staphylococcus saprophyticus o Children – Klebsiella aerogenes, Enterococcus species

Answer 239

``` o AN dx renal abnormality o Poor urine flow o Dysfunctional voiding o Enlarged bladder o Constipation o Abdominal mass o Recurrent fever of uncertain origin o Previous UTI (hx suggestive of or confirmed) o FHx of vesicoureteric reflux (VUR) or renal disease o Evidence of spinal lesion o Poor growth o High BP ```

Answer 240

``` • Kawasaki disease – rash, mucositis, extremity swelling, cervical lymphadenopathy, sterile pyuria • Meningitis • Nephrolithiasis • Sexual abuse o Dysuria ```

Answer 241

• renal scarring/ damage o almost always preceded by an upper UTI o more common in children with VUR • HTN o If child has severe or bilateral renal scarring • Renal insufficiency + failure

Answer 242

``` • Life-threatening haemorrhage • Due to depletion of coagulation factors and platelets • • Thrombi might lead to vascular obstruction/ischaemia + multi-organ failure o AKI • Also due to organ haemorrhage, hypovolaemia, hypotension, hypoxaemia o Gangrene o Loss of digits • Severe bleeding o Cardiac tamponade o Haemothorax o Intracerebral haematoma ```

Answer 243

``` • Severe liver failure • Heparin induced thrombocytopenia • Idiopathic purpura fulminans • Vitamin K deficiency o No thrombosis o Poor diet – bulimic anorexia o Conditions that affect GI absorption – CF, IBD, PBC o Raised INR • HELLP syndrome ```

Answer 244

* Severe sepsis/infection - most common cause * Systemic inflammatory response + tissue/infectious material released into circulation --> activation of the cytokine network + coagulation pathway

Answer 245

* Severe sepsis/infection - most common cause * Systemic inflammatory response + tissue/infectious material released into circulation --> activation of the cytokine network + coagulation pathway * Major trauma/burn * Organ destruction * Severe toxic/immunological reaction * Severe obstetric disorders * Malignancy (esp leukaemias) * Toxic or immunological reactions * Major vascular disorders * Incompatible blood transfusion, transplant rejection * Severe liver disease, pancreatitis

Answer 246

* Presence of >1 known underlying conditions causing DIC + * Abnormal global coagulation tests * Low plt count * Raised PT * Low fibrinogen level * Raised D-dimer, fibrin degradation products

Answer 247

• An acquired syndrome characterised by systemic activation of the coagulation pathways resulting in: o Formation of intravascular thrombi – may lead to vascular obstruction/ischaemia and multi-organ failure o Depletion of platelets + coagulation factors * Characterised by evidence of both thrombin + plasmin activation * Underlying severe pathological process (pancreatitis, sepsis, obstetric complications, cancers, trauma, ABO reaction)  clotting activated everywhere  clotting factors + platelets exhausted  cannot clot anymore + breakdown of clots  severe bleeding

Answer 248

mutation in the B globin gene present on Chr 11

Answer 249

o β thalassaemia trait (-/β2) - anaemic, low MCV, low MCH, asymptomatic o β thalassaemia intermedia (β+/β0 or β+/β+) – high HbF, anaemia, low MCV, low MCH, splenomegaly, bone changes o β thalassaemia major (βο/βο) – high HbF, severe haemolytic anaemia, very low MCV, very low MCH, hepatosplenomegaly, chronic transfusion dependency

Answer 250

• AR inheritance • FHx o Ask about need for blood transfusions, anaemia unresponsive to iron therapy • Decreased/absence of synthesis of one of the two polypeptide chains (α or β) that form HbA • This results in reduced Hb in RBC + anaemia • There is thalassaemia minor, intermedia, major

Answer 251

• Anaemia of chronic disease o Normocytic anaemia o Normal Hb analysis • Haemolytic anaemia o Normocytic anaemia o raised MCHC • Mild Fe deficiency anaemia o Very similar to presentation of beta thalassaemia trait o Differentiate using history o B thalassaemia trait – fasting serum iron + transferrin saturation are usually normal • PK deficiency o Severe hyperbilirubinemia in the neonatal period o Anaemia, hepatosplenomegaly, skeletal changes o Normal HbA

Answer 252

• Thrombotic complications • Hemochromatosis • Endocrine complications associated with iron overload o Anterior pituitary  slow growth, delayed sexual maturation, infertility o Pancreatic islet cells  T1DM o Gonadal iron deposition  dysfunction in sexual performance, secondary amenorrhoea o Thyroid/parathyroid dysfunction • Transfusion reactions, transfusion acquired infection • Iron overload can cause o Hepatobiliary complications- hepatomegaly, liver dysfunction, cirrhosis, HCC o Cardiovascular complications – arrythmias, contractile dysfunction, CHF • Splenectomy   susceptibility to infections • Aplastic crisis – Parvovirus B19 infection in untransfused b thalassaemia intermedia • Others – gout, leg ulcers, cord compression (due to extramedullary masses of erythropoietic tissue)

Answer 253

Beta thalassaemia trait • Normal life expectancy Beta thalassaemia intermedia • Cosmetic changes in appearance • morbidity may be dependent on the management of iron overload • complications related to transfusional iron overload Beta thalassaemia major • Fatal in the first few years of life if untreated (heart failure secondary to severe anaemia) • With blood transfusions – near normal survival if treated appropriately • Leading cause of death remains heart failure – iron induced cardiomyopathy in poorly chelated patients

Answer 254

Primary ITP • Autoimmune haematological disorder • Isolated thrombocytopenia (<100x10^9/L) in the absence of an identifiable cause • Antibody-mediated destruction of peripheral platelets, antibody-mediated inhibition of platelet production Secondary ITP • All forms of ITP where associated medical conditions or precipitants can be identified diagnosis of exclusion

Answer 255

• Children - <10 o Following a viral infection or occasionally following immunisation • Viral infections (CMV, VZ, HCV, HIV) o Self-limiting disorder

Answer 256

• Complications of o Long-term thrombopoietin mimetics -  risk of thrombotic events, withdrawal thrombocytopenia o Long term CS treatment – osteoporosis, glucose intolerance, increased risk of infection • Bleeding o Life threatening bleeding (<5%) o Intracranial bleeding (0.5%) • Transfusion transmitted infectious diseases Prognosis • Good in children – up to 80% achieve a spontaneous remission • It will resolve spontaneously within 6-8 weeks • 30-70%of children recover spontaneously from severe thrombocytopenia within 3 weeks • Benign condition for most affected children • Major bleeding appears to be rare

Answer 257

• Acquired thrombocytopenia (e.g. related to liver disease or alcohol ingestion) o OE – signs of liver failrue • TTP o May demonstrate neurological changes or fever + anaemia + thrombocytopenia o Anaemia, thrombocytopenia, schistocytes,  LDH, Haptoglobin • DIC o Occurs in the setting of other medical conditions – sepsis, trauma malignancy o Patient usually very unwell with significant bleeding due to coagulation defects o Micro-angiopathic picture – anaemia, thrombocytopenia, schistocytes • Sepsis • Drug induced thrombocytopenia • Splenomegaly – pooling of platelets, early destruction • Type IIB von Willebrand’s disease o Gain of function mutation of VWF results in binding to platelets + clearance of platelets from the circulation o Patients have bleeding out of proportion to their platelet count

Answer 258

• Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes.

Answer 259

two copies of α genes on each Chr 16 o Mutations or deletions in at least 1 of th 4 alpha globin genes  variably impaired α globin chain production with accumulation of the now excess + unpaired beta globin chians

Answer 260

o Silent carrier  α+ thalassaemia heterozygous (α,-/α,α) – anaemic, low MCV, low MCH, asymptomatic o A-thalassaemia trait  α+ thalassaemia homozygous (α,-/α,-), αο thalassaemia heterozygous (α,α/-,-) – anaemic, low MCV, low MCH, asymptomatic o α thalassaemia intermedia (HbH disease (α,-/-,-)) – anaemia, low MCV, low MCH, splenomegaly, jaundice, bone changes o α thalassaemia major (-,-/-,-) – Hb Bart’s – severe non-immune intrauterine haemolytic anaemia, foetuses develops hydrops fetalis, usually fatal

Answer 261

• B thalassaemia o Often presents at a few months of age with progressive pallor + abdominal distension o Perinatal hx most often uneventful

Answer 262

• Fe deficiency anaemia • Anaemia of chronic disease o Normocytic o Low serum iron, low transferrin saturation, normal or increased ferritin • Sideroblastic anaemia • B thalassaemia o Often presents at a few months of age with progressive pallor + abdominal distension o Perinatal hx most often uneventful • B12/ Folate deficiency o Macrocytic o B12 deficiency – neurological deficits – symmetrical neuropathy with ataxia associated with loss of position + vibrato sense • Other haemolytic anaemias • Haematological malignancies o Systemic symptoms, lymphadenopathy, abnormalities in other cell lines

Answer 263

``` • HbH o Transient episodes of severe anaemia (secondary to increased oxidant stress from medication or illness) o Aplastic crisis due to parvovirus B19 or other viral infections o Cholelithiasis o Leg ulcers o Splenomegaly o Calcium and vitamin D deficiency o Osteopenia o Growth retardation • Transfusion related o Infection transmission o Iron overload o Transfusion reactions o Alloimmunisation ``` • Spleen o Hypersplenism + associated pain + pancytopenia o Splenectomy complications short term – perioperative bleeding, infection, thrombosis o Splenectomy complications long term – pulmonary htn, infection, thrombosis • Transient aplastic crisis

Answer 264

• Silent carrier + A-thalassaemia trait o Usually asymptomatic o Only require education + genetic counselling • HbH disease o Variable severity o Increased risk of compilations o They generally lead normal lives • Hb Bart’s o Survival into childhood o Risk of severe congenital anomalies + neurological impairment o Severe anaemia

Answer 265

Thalassaemia A • Prevalent in Mediterranean, Southeast Asia, Africa, India, Middle East Thalassaemia B • Prevalent in areas around the Mediterranean, Middle East, northern Africa, India, Southeast Asia

Answer 266

• AR • Amino acid glutamic acid (hydrophilic) is replaced by valine (hydrophobic) at position 6 in the beta globin chain • HbSHbS – sickle cell disease o Acidosis, hypoxia, dehydration causes the cell to sickle o Sickling causes vasoocclusion + haemolysis (intravascular + extravascular) o Intravascular haemolysis – RBC prematurely destroyed within the vasculature o Extravascular haemolysis – RBC engulfed by macrophages in the spleen + liver • HbAHbS – sickle trait, carrier o Normal laboratory tests o No health problems unless person is exposed to extreme conditions e.g. high altitude, dehydration o Protection against Plasmodium falciparum malaria – still require prophylaxis o Sickle cell trait is occasionally associated with significant morbidity e.g. haematuria, decreased ability to concentrate urine, renal papillary necrosis, splenic infarction, exertional rhabdomyolysis, exercise-related sudden death o Sudden death may be induced by severe hypoxia, severe dehydration, severe physical exertion * HbA made up of – 2 α globin chains, 2 β globin chains * HbS – mutation in HBB gene  misshapen β globin chains * Sickle cells have a short lifespan of approximately 20-30 days compared with 120 days in normal erythrocytes

Answer 267

* 99% of children in the UK survive to adulthood * 90% will survive past 20 years of age * Variable; survival into the 60s-70s to severe disease w organ damage + early death * Median life expectancy – 50-60 * Can cause premature death due to complications * 50% of patients with the most severe form of sickle cell disease will die <40 years * Most common cause of death in the first 2 years  infection (+/- splenic sequestration)

Answer 268

* Gout * Septic arthritis * Connective tissue disease * Perthes’ disease * Acute abdomen * Osteomyelitis * Trauma * Parvovirus B19 infection * Iron deficiency anaemia

Answer 269

o Recurrent sickle cell crises  Skeletal pain  Avascular necrosis of the femoral/humoral head  Pain due to vaso-occlusion by sickled erythrocytes, leading to ischaemic tissue damage + subsequent inflammation and pain  Precipitated by cold, dehydration, prolonged exertion, infection, ischaemia o Anaemia  Due to haemolysis (transfusion reaction, infection), reduction in erythropoiesis, blood loss, sequestration in the spleen + liver  Transient red cell aplasia due to parvovirus B19 infection – fever, headache, myalgia, arthralgia, respiratory, GI sx o Acute splenic sequestration  Large numbers of erythrocytes are trapped in the spleen  splenomegaly + profound anaemia o Acute hepatic sequestration – pain in RUQ, tender hepatomegaly, pallor, circulatory collapse o Acute chest syndrome  Common in early childhood  Clinically indistinguishable from pneumonia  Can be severe + life-threatening  Chest pain, tachypnoea, cough, SOB, respiratory distress, fever, new infiltrate on CXR  Possible causes – infection, infarction, both o Infections + Sepsis  Susceptible to a range of bacterial infections  Acute infection is one of the most common causes of admission to hospital in children <10y  Children <5 – increased risk of pneumococcal infection  Sepsis – pneumococcal sepsis, Gram -ve sepsis, LRTI, UTI, osteomyelitis o Osteomyelitis  One of the most common infectious complications  Femur, tibia, humerus  Most commonly by Salmonella species, Gram -ve enteric bacteria, Staphylococcus aureus o Priapism  Majority of first episodes <20y  Stuttering – occurring for <3h but several times a week  Minor – isolated or infrequent episodes of <3h  Fulminant – events >3h  Caused by obstruction to the venous drainage of the penis due to vaso-occlusion  If >1h – go to hospital  If >3h – surgical emergency o AKI – dehydration, sepsis drugs, multi-organ failure o Neurological complications  Due to infection + stoke  Headache, seizures, focal neurological signs, visual impairment, altered consciousness, acute deterioration in cognition  Sickle cell anaemia is the most common cause of stroke in children o Multiple multisystem organ failure  Associated with vaso-occlusive crisis and/or sepsis  Acute development of severe dysfunction in at least 2/ major organs (kidney, liver, lung)

Answer 270

o Hepatobiliary complications o Pain o Anaemia o Sleep-disordered breathing  Common  Results in nocturnal hypoxia, OSA  Up to 40% of children and adolescents have nocturnal hypoxia o Cognitive impairment  Around 20% of children have silent cerebral infarcts visible on MRI  Mild cognitive impairment can be detected using neurocognitive tests o Eye complications – sickle retinopathy o Gall stones  Occur in 50% of children aged over 10 years  Usually asymptomatic  Can develop complications – acute cholecystitis, gallbladder empyema, ascending cholangitis, obstruction of the biliary ducts, acute pancreatitis o Impaired nutrition and growth  Apparent after the age of 6m  May be due to decreased absorption of nutrients, increased metabolic rate and/or poor appetite caused by recurrent febrile + painful episodes  Puberty delayed by about 2-3 years  Children on long-term transfusion programmes may have significant iron overload + develop pituitary and/or primary gonadal deficiencies o Leg ulcers  More common in people aged <20y  Typically appear just above the ankle and are often bilateral o Renal complications  Sickle nephropathy – presents as a spectrum form painless haematuria, proteinuria, progressive loss of function to end-stage renal disease  decrease in medullary blood flow due to ischaemia, increase in glomerular blood flow, and papillary necrosis all contribute to kidney damage  Sickle cell obstruction of small vessels  medullary insufficiency  large quantities of dilute urine produced  pt susceptible to dehydration  Nocturnal enuresis is common in all children, but there is an increased rate in children with sickle cell disease, particularly boys  medullary infarction  Recurrent haematuria -> renal papillary necrosis  Sloughing of the papilla may lead to ureteric obstruction and renal failure  Renal medullary carcinoma occurs almost exclusively in people with the sickle cell trait, sickle cell disease, and occasionally sickle cell anaemia and may present with haematuria – aggressive, has usually metastasized by the time the symptoms (weight loss, haematuria, abdominal pain or back pain) have occurred

Answer 271

spleen scars down + fibroses to as little as 1cm in diameter  susceptibility to encapsulated bacteria (streptococcus pneumoniae, haemophilus influenzae, neisseria meningitides, salmonella)

Answer 272

* Diminished RBC production due to low iron stores in the body * Children 12-14y – Hb <120 g/L * Serum ferritin level <30 mcg/L confirms iron deficiency

Answer 273

iron deficiency anaemia due to poor diet or malabsorption resulting in no iron intake • Malabsorption – coeliac disease, H. pylori infection, IBD, schistosomiasis or hookworm • Increased loss – chronic blood loss, esp. from uterus + GIT • Other causes – blood donation, self-harm, haematuria, nosebleeds, medication

Answer 274

Ddx of microcytic anaemia • Thalassaemia - low MCV, low MCH, raised serum iron, raised ferritin, low TIBC • Sideroblastic anaemia – alcoholism, hepatosplenomegaly • Anaemia of chronic disease – normocytic, normochromic, N/increased ferritin • Lead poisoning hx of RF • Thalassaemia + sideroblastic anaemia are both associated with an accumulation of iron --> raised serum iron, raised ferritin, low TIBC

Answer 275

Complications • Cognitive and behavioural impairment in children esp. attention deficits • Impaired muscular performance – reduced endurance, exercise capacity • Heart failure – high output HF can occur in people with severe anaemia, esp. those with Hb <50g/L Prognosis • 10-20% of people are thought to discontinue iron supplements because of adverse effects

Answer 276

Haemophilia A • Bleeding disorder caused by deficiency of clotting factor VIII (8) Haemophilia B • Bleeding disorder caused by deficiency of clotting factor IX (9)

Answer 277

Haemophilia A | • 5x more common than haemophilia B (factor IX deficiency)

Answer 278

• Inhibitors i.e. antibodies to FVIII or FIX o Reduce or completely inhibit the effect of treatment o require the use of very high doses of factor VIII or bypassing agents (e.g. FVIIa) for treating bleeding o may be amenable to immune tolerance induction  high doses of factor VIII or IX concentrate for months to years ``` • Transfusion-related o Allergic reaction to infused product o Hepatitis A, B, C o HIV o ?Prions ``` • Vascular access o Peripheral veins may be difficult to cannulate o Central venous access devices may become infected or thrombosed * Bleeding or life-threatening haemorrhage * Compartment syndrome ( tissue pressure from bleeding within a closed compartment) • Joint and/or muscular damage (e.g. contractures, synovitis, arthropathy, pseudotumour, muscle atrophy) o Pseudotumour = a potentially limb- and life-threatening condition unique to haemophilia; develops as a result of inadequately treated soft tissue bleeds, usually in muscle adjacent to bone, which can be secondarily involved * Near normal lifestyle and lifespan * Preservation of joint function may be achieved even in patients with severe haemophilia A or B with the use of prophylaxis

Answer 279

* Liver disease * Haemophilia * Thrombocytopenia – bleeding pattern is typically mucocutaneous and not MSK as in haemophilia • VWF deficiency o Similar sx o More mucosal bleeding sx • Platelet dysfunction • Deficiency of other coagulation factors (e.g. factor V, VII, X, XI, or fibrinogen) o MSK bleeding is uncommon • Scurvy o Mucosal bleeding o Reduced serum level of vitamin C o Hx of restricted diet, sepsis, HIV, critical illness, pancreatitis • Child abuse ``` • DIC o No differentiating signs/ symptoms o Underlying casual condition (e.g. APML) is present o decreased Plt count o ```

Answer 280

• Inflammation of the brain parenchyma associated with neurological dysfunction (e.g. altered state of consciousness, seizures, personality changes, CN palsies, speech problems, motor and sensory deficits)

Answer 281

* Viruses are the main cause of encephalitis * Herpes virus is the most common group of viruses identified * <1, >65

Answer 282

``` • Seizures – due to the extensive inflammatory reaction, can occur in the long term, need to be treated with standard anticonvulsant drugs in consultation with a neurologist • Hydrocephalus • Neurological sequelae o Occur within one month o Abulia, akinetic mutism, aphasia, amnesia, neuropsychiatric issues, motor problems o ADHD + cognitive issues in children • Hypothalamic + autonomic dysfunction o SIADH, DI, loss of temperature control • Post-viral chronic fatigue syndrome o Prolonged and persistent fatigue, myalgia, difficulty concentrating, post-exertional malaise • hydrocephalus • Death ``` Prognosis • 2/3 of children will have long-term morbidity o Fatigue, cognitive impairment, attention and deficit disorders o Dysphasia, motor impairment, ataxia, epilepsy, personality changes

Answer 283

• Meningitis – MRI will show evidence of meningeal enhancement with no evidence of brain parenchymal involvement • Intracranial tumours and cysts o Headache worse on awakening o Altered mental status o Seizures o Focal neurological deficits • TBI • Status epilepticus • Inborn errors of metabolism o Hx of parental consanguinity o Early neonatal death o Maternal acute fatty liver of pregnancy o HELLP syndrome o Baby – lethargic, irritable, poor feeding o O/E – jaundice, cataracts, hepatosplenomegaly, abnormal muscle tone, dysmorphism o May present with life-threatening encephalopathy

Answer 284

* Common inflammatory skin condition * Occurs in areas rich in sebaceous glands (e.g. scalp, nasolabial folds, ears, eyebrows, chest, flexures, skin folds) * Might be related to a fungus called Malassezia (inflammatory reaction to excess Malassezia yeast that is found in the oil secretion on the skin)

Answer 285

Complications • Secondary infection • Erythroderma Prognosis • Infantile seborrheic dermatitis is usually self-limiting • Resolves by 4 months of age • In some babies it might persist for 8-12 m (or longer) ``` DDx In infants • Atopic eczema • Scabies • Psoriasis • Irritant contact dermatitis • Zinc deficiency • Leiners disease – complement deficiency presenting with severe widespread seborrheic dermatitis, recurrent infections, D, failure to thrive ```

Answer 286

• Allergic contact dermatitis o Nappy constituents (dyes, adhesives, rubber additives), topical preparations, baby wipes o Skin erythema, vesicles, superficial erosions, oedema o Sparing of inguinal folds o 1-3 week period of sensitization before rash presents o Lesions may persist for 2-4 weeks after trigger is removed • Infantile seborrheic dermatitis o Usually affects scalp, forehead, eyebrows, post-auricular area, chest but may also affect nappy area o Well defined areas of redness + scaly papules + plaques o Inguinal fold involvement o 2nd week – 6 months ``` • Perianal streptococcal dermatitis o Bright red, sharply demarcated perianal rash with possible maceration o May involve genitals o Perianal pain + itching o Painful defecation o GABHS ``` • Eczema herpeticum o Painful crops of uniform vesicles or blisters on an erythematous base which become pustular and crust over o Lesions may be haemorrhagic o Child may have a fever + be systemically unwell

Answer 287

• Viral skin infection Aetiology • Poxvirus - Molluscum contagiosum virus (MCV) o Incubation period – 2-12w, can be as long as 26w • MCV-1> MCV-2> MCV-3> MCV-4 • MCV-1 – paediatric cases • MCV-2 – teenagers, adults, sexually transmitted

Answer 288

* Benign vascular lesion * Infantile – appear during the first weeks of life * Congenital – fully formed at birth

Answer 289

Complications • Cosmetic disfigurement • Propranolol related adverse effects o Hypoglycaemia, bronchospasm, hypotension, hypothermia • CS induced o Cushing’s syndrome o Adrenal suppression • Lesioned ulceration – bleeding, crusting, pain, secondary infection • After involution – persistent scarring, skin atrophy, redundancy, discolouration, telangiectasia Prognosis • Infantile – proliferative phase until 5m then involution with 90% completion by 4 years • Predictable uncomplicated pattern of growth followed by slow involution lasting 1-8 years • Congenital – involuting and non-involuting

Answer 290

* Very common * Benign, keratin-filled epidermoid cysts that occur in individuals of all ages • Infants (50%), children, adults * Infants – tend to resolve within a few weeks * Older children/ adults – tend to persist

Answer 291

* 0.8-2.5% mortality rate * Increased risk of infection and death in children * Risk of a child 1-5 dying 4x higher than that of 11-15

Answer 292

• Meningococcal disease (infection with Neisseria meningitidis) presents as o Bacterial meningitis – 15% of cases o Septicaemia – 25% of cases o Combination – 60% of cases

Answer 293

``` • <28d o GBS – Streptococcus agalactiae o E. coli o S. pneumoniae o Listeria monocytogenes • >=3m o Neisseria meningitidis – commonest cause of meningococcal disease in people aged <25 o Streptococcus pneumoniae – commonest cause of bacterial meningitis in adults o Haemophilus influenzae type b ```

Answer 294

``` • Neurological complications o Hearing loss – commonest complication, 34% o Seizures > motor deficits > cognitive impairment > visual impairment • Physical complications o Skin scars o Amputations • Other o Metabolic disturbances -  glucose, potassium, calcium, Mg, acidosis, anaemia, coagulopathy o Hydrocephalus o Reduced QOL o Anxiety o LD o Emotional and behavioural difficulties ```

Answer 295

* Family history * Smoking * Infectious gastroenteritis * NSAIDs increase risk of relapse * Appendicectomy – increased risk early after an appendicectomy + decreased to that of the general population about 5 years post op

Answer 296

``` • Psychosocial impact • Anaemia • Malnutrition, faltering growth, delayed pubertal development o  oral intake,  nutritional requirements,  GI losses, malabsorption, chronic CS use, drug nutrient interactions • GI o Haemorrhage o Strictures o Perforation o Fistulae (bn bowel, bladder, vagina) o Perianal fistulae + abscesses o GI cancer o Malabsorption • Extraintestinal features o Uveitis o Episcleritis o Gallstones o Kidney stones o Arthropathy o Sacroiliitis o Ankylosing spondylitis o Osteomalacia o Erythema nodosum o Pyoderma gangrenosum o Amyloidosis Prognosis • Lifelong relapsing condition • 1/3 have a mild to moderate course in the long-term with little or no requirement for CS drug treatment • 2/3 pt will require surgery at some stage • 2/3 pt will require >1 operation • Higher mortality rate • Poor prognosis if o Early age of onset o Perianal disease o CS use at presentation o Severe symptoms at presentation o Hx of >1 surgical resection o Hx of complicated disease – abscess, fistulizing, penetrating disease ```

Answer 297

* UC * Infective colitis * Pseudomembranous colitis * Acute appendicitis * Coeliac disease * IBS

Answer 298

CD • Lower R • Bleeding uncommon • Starts in terminal ileum • Can affect any point of the digestive tract • Patches of inflammation • Perianal/ anal skin tag, fissure, fistula, abscess * Smoking is a RF * Transmural inflammation * Presence of noncaseating granulomas ``` UC • Lower L • Bleeding common • Starts in rectum – spreads distal to proximal • Only affects large bowel • Continuous inflammation ``` * Smoking is protective * Inflammation limited to intestinal mucosa/ submucosa * Absence of non-caseating granulomas

Answer 299

• Indirect hernias are congenital – seen in infants o Protrudes through the internal inguinal ring o Passes lateral to the inferior epigastric artery o Due to failure of the processus vaginalis to close o Low risk of strangulation • Commoner in males as the testis migrates from its location on the posterior abdominal wall down through the inguinal canal  a patent processus vaginalis may persist + be the site of subsequent hernia development

Answer 300

* Defect in the anterior abdominal wall fascia * Occurs when the umbilical ring fails to close * The defect allows protrusion of a peritoneal sac that s covered by skin * May contain intra-abdominal contents e.g. omentum or bowel

Answer 301

DDx • Femoral hernia o Older females o Below inguinal ligament, lateral and inferior to pubic tubercle o (inguinal hernia – in the line of the inguinal ligament, between the ASIS + pubis) • Undescended testis – groin US • Lymphadenopathy – firm, tender, non-reducible – US scan

Answer 302

• Epigastric hernia o Midline of the upper abdomen o Defects in the linea alba o Unlikely to cause strangulation/ obstruction as only pre-peritoneal fat herniates through the defect • Omphalocele o Results from a defect at the umbilicus through which abdominal contents herniate o Only covered by an outer layer of amnion and inner layer of peritoneum o Not covered by skin

Answer 303

• Risk of bleeding complications is highest during induction therapy due to BM suppression • TLS • Pancytopenia • Febrile neutropenia • Infertility o Offer semen cryopreservation to M post-puberty o Refer to fertility centre o There will typically be insufficient time to stimulate oocyte production to allow oocyte or embryo (if a partner is available) cryopreservation. Prognosis • Response cure rate in children is 80%-90% • 5 year survival rate in 15-54 ->50%

Answer 304

• Reactive lymphocytosis o EBV may present with thrombocytopenia, fever, malaise, pharyngitis, lymphadenopathy, splenomegaly • ITP – differentiate using BM aspiration or peripheral blood smear – no blast cells • AML o May be indistinguishable clinically o AML – skin infiltration + gum hypertrophy o ALL – CNS, testis, mediastinal involvement

Answer 305

Age <1 or >10 WBC count at presentation >50x10^9/l Cytogenetic profile T(9;22) T(4;11) MLL translocation T(8;14) Response to induction therapy No CR or poor response Immunophenotypic subtype Cd20+ ALL Presence of MDR

Answer 306

RF • EBV infection • FHx Epidemiology • Bimodal distribution – 15-34 and >60 ``` Unfavourable disease o >3 involved LN areas o Raised ESR o Bulky mediastinal mass o Extranodal disease ```

Answer 307

Complications • ABVD – pulmonary toxicity • Both chemotherapy and radiotherapy can cause sterilisation o Counsel patients against risk of infertility + options for fertility preservation • Impaired immunity following chemo/radio • Chemotherapy and radiotherapy related o Secondary malignancies o Cardiac disease • Radiotherapy related thyroid abnormalities o 50% of patients – hypothyroidism Prognosis • Excellent long-term prognosis • 85-90% long term disease control after brief chemotherapy followed by low dose involved field radiotherapy

Answer 308

``` • Reactive lymph nodes • Infectious mononucleosis o Tender lymphadenopathy • NHL • Lymphadenopathy from other malignancies ```

Answer 309

* Effects of child maltreatment can last throughout adulthood and include anxiety, depression, substance misuse, self-destructive, oppositional or antisocial behaviours * Difficulty in forming or sustaining close relationships, sustaining employment and parenting capacity in adulthood * Lifelong disability, physical scarring * Adverse effects on growth and physical development * Impaired language development + behaviour yb age 4 * Impaired ability to socialise, play, learn

Answer 310

* Parental drug or alcohol use * Parental MH problems * Intra-familial violence or history of violent offending * Previous child maltreatment in members of the family * Known maltreatment of animals by the parent or career * Vulnerable + unsupported parents or carers * Pre-existing disability in the child (physical or mental impairment)

Answer 311

• Arrangements for which 3 safeguarding partners have the responsibility o Local authority o Clinical commissioning group for an area o Chief officer or police for a police area • These arrangements aim to safeguard and promote the welfare of all children in a local area

Answer 312

• All forms of physical and/or emotional ill-treatment, sexual abuse, neglect or negligent treatment or commercial or other exploitation, resulting in actual or potential harm to the child’s health, survival, development or dignity in the context of relationship of responsibility trust or power

Answer 313

• Neglect o the persistent failure to meet the child’s basic physical or psychological needs that is likely to result in the serious impairment of their health or development • Emotional abuse o Persistent maltreatment which results in adverse effects on a child's/young person's emotional, behavioural, social or cognitive development • Sexual abuse o Forcing or tempting a child/young person to take part in sexual activities • Physical abuse o Causing physical harm to a child/young person • Fabricated or induced illness o The misrepresentation of the child/young person as ill by the caregiver by fabricating or inducing symptoms

Answer 314

• Age of consent in the UK  16 years old o <16 + adult  rape • 12 and under + anyone  rape • 13-15 o +<18  case by case basis o + Adult  rape • 16-18 o + Adult  lawful o + in position of trust  unlawful

Answer 315

Hypoglycaemia in children <=3.9 mmol/l Hypoglycaemia in neonates <2.6 mmol/l Normal in the first few hours after birth

Answer 316

* Pre-term birth * IUGR * Hypothermia * Neonatal sepsis * Inborn error of metabolism * Nesidioblastosis * Beckwith-Wiedemann syndrome * Mother with T1, T2DM, GDM * Mothers who have taken BB

Answer 317

* Insufficient food consumption (missed meals, nocturnal hypoglycaemia) * Exercise * Alcohol ingestion * Excessive insulin dosing * Sulfonylureas

Answer 318

o Subclinical hyperthyroidism = Low TSH, N FT3 + FT4 | o Overt hyperthyroidism = low TSH, high FT4, FT3

Answer 319

Hyperthyroidism - • Rapid growth in height Hypothyroidism • Slow growth

Answer 320

* Hypothyroidism  treatment is life-long with PO levothyroxine titrating dose to maintain normal growth, TSH + T4 levels * CV disease *  CV risk factors (e.g. hypercholesterolaemia) * Myxoedema coma (life-threatening surgical emergency) * Slow growth • Hyperthyroidism o Grave’s orbitopathy o Thyrotoxic crisis – life-threatening medical emergency

Answer 321

• Chromosomal disorder caused by absent or duplicated chromosomes o Trisomies – Edward’s syndrome, Patau’s syndrome, Down’s syndrome o 22q11 deletion (Di George’s syndrome) o 45XO Turner’s syndrome • Single gene disorders (caused by deletions, mutations, duplications within a single gene) o Holt-Oram syndrome • Fetal alcohol syndrome • Diabetes in pregnancy • Maternal use of cannabis

Answer 322

* RF – Prematurity/rubella / asphyxia during deliver/ valproate during pregnancy * Can lead to HF, intraventricular haemorrhage, NEC, bronchopulmonary dysplasia, death ``` • PDA o L heart volume overload  Irreversible pulmonary vascular disease  HF o  risk of IE  Routine abx prophylaxis not indicated  During invasive procedures (e.g. urinary or GI procedures) involving areas of sepsis, suitable abx should be given promptly o Endarteritis ```

Answer 323

• Maternal factors o Rubella or other viral illness during pregnancy o Alcoholism o Maternal age >40 o Diabetes • Long term consequences - PS, AR, CAD, aortic root dilation • Sudden cardiac death in repaired TGA (0.3-0.8%) – most common 1-5y after ASO (arrythmia, MI) • 20 year survival 90%

Answer 324

* DS, DiGeorge, fetal alcohol syndrome * TOF more common than TGA * Study – 97% at 10 years, 85% at 36 * Long term complications – arrhythmias, progressive pulmonary outflow obstruction, progressive PR resulting in RVF

Answer 325

* RF – congenital bicuspid valve, rheumatic fever, Turner’s syndrome, Williams syndrome * Can cause HLHS ( critical AS in early fetal life   pressure in heart  LV dilation  myocardial damage  HLHS  underdevelopment of mitral valve + aortic arch * Complications – acute HF, sudden cardiac death, thrombosis (mechanical valve), infection (prosthetic valve) * Near normal life expectancy with surgery

Answer 326

* Absence of tricuspid valve + hypoplastic RV * No connection between RA + RV * Venous blood directed to L via PFO * Pulmonary blood flow dependent on associated VSD or PDA

Answer 327

• Measles o Prodrome of cough, coryza, conjunctivitis o Exanthem spreads cephalocaudally o Koplik’s sports • Rubella o Exanthem spreads from face to trunk o Tender cervical, occipital, post-auricular lymphadenopathy • Meningococcaemia o Rapidly progressing purpuric eruption o Meningeal signs/ sepsis • Viral rash – enterovirus + adenovirus infections

Answer 328

* Measles * Roseola infantum * Scarlet fever (Group A strep. Pyogenes) * Erythema infetiosum (parvovirus b19) * Enteroviral infections (echovirus, coxasakcie virus) * Kawasaki disease

Answer 329

• Acute glomerulonephritis o Low complement C3 o  Cr,  GFR, wet lungs on CXR o Haematuria, HTN • Focal segmental glomerulosclerosis o Resistant to steroids • Other conditions causing severe oedema o CHF – cardiac murmur, cardiomegaly, hepatomegaly o Hepatic disease/ Cirrhosis – hepatomegaly, ascites, jaundice o However in these conditions there is no severe proteinuria o In nephrotic syndrome there is no orthopnoea, whereas in the other 2 conditions there is • Protein losing enteropathy – GI signs of malabsorption – diarrhoea, steatorrhea, blood in stool • Kawashirkor (severe childhood malnutrition) o Commonest cause of oedema + hypoalbuminaemia in the developing world o Swollen belly, flag sign (alternating bands of pale + dark hair), weight loss • Diabetic nephropathy (commonest cause of nephrotic syndrome in adults with a hx of long-standing DM)

Answer 330

``` • Between 2-8 years Complications • Thrombosis • Infection o Particularly from encapsulated organisms e.g. Pneumococcus o May be related to  urinary loss + catabolism of IgG or to treatment with CS + suppressants • HTN • CKD • End-stage renal disease • Relapse of MCD in adulthood ``` Prognosis • Most children with MCD top having relapses during their teenage years but incidence of relapse in adulthood is high • Despite this, renal function can be normal and overall morbidity is low

Answer 331

* Proteinuria (>3.5 g/24h) * Hypoalbuminemia (<30g/L) * Peripheral oedema • Other o Hyperlipidaemia o Thrombotic disease o Hypogammaglobulinaemia * Not a single disease – it is a constellation of several symptoms that can be caused by several renal diseases * Minimal change disease is the commonest cause of nephrotic syndrome in children - primarily idiopathic

Answer 332

* Minimal change disease * Focal and segmental glomerulosclerosis * Membranous nephropathy * Membranoproliferative Glomerulonephritis * Diabetic nephropathy

Answer 333

``` Nephritic syndrome Triad of: • Haematuria (sometimes macroscopic) – MAIN FEATURE • Sub-nephrotic-range proteinuria • HTN ``` * Salt and water retention *  in GFR * Low urine output (due to  renal function) 2y to infectious processes/immune mediated  inflammatory proteins deposited in glomerulus  causes more damage  leak of proteins + blood but less protein than nephrotic syndrome

Answer 334

* Immunoglobulin A nephropathy * Postinfectious glomerular nephritis * Rapidly progressive glomerular nephritis * Vasculitis * Anti-glomerular basement membrane (GBM) glomerular nephritis

Answer 335

* Glomerular injury * Inflammatory changes in the glomerular capillaries + the GBM * Inflammatory changes are mostly immune mediated * Can result in nephrotic or nephritic syndrome * Acute glomerulonephritis can cause nephritic syndrome

Answer 336

• Often part of a multisystem disorder • Inflammation + thinning of the GBM + the occurrence of small pores in the podocytes of the glomerulus • These pores become large enough to permit both proteins + RBC to pass into the urine • IgA nephropathy o Recent URTI o Sx present within 1-2 days of non-specific URTI with severe flank/abdominal pain, gross hematuria, edema • Post-streptococcal glomerulonephritis (PSGN) o Recent URTI o Sx 2-3 w after recovering from URTI (URTI specifically caused by a Streptococcus bacteria) o Sx – abdominal pain, haematuria, oedema, oliguria • HSP o Systemic vessel vasculitis o Deposition of IgA antibody immune complexes in different areas throughout the body o Palpable purpura, abdominal pain, arthritis • HUS o Immediately following infectious diarrhoea caused by E. coli (O157: H7) o Bacteria produce a toxin that causes widespread inflammation + MAHA + thrombocytopenia + AKI o When the inflammation reaches the kidney, the patient will begin showing signs of nephritic syndrome or potentially AKI

Answer 337

``` • HTN • CV disease • AKI • CKD • Susceptibility to infection o Urinary loss of IgG or treatment with CS + immunosuppressants ``` Prognosis • Patients with post-streptococcal GN and IgA nephropathy have a low incidence of developing CKD • Most children eventually have complete clinical recovery from the initial episode

Answer 338

``` o Haematuria + severe pan o No RBC casts/ no dysmorphic RBC • RCC o Triad of – fever, flank pain, haematuria • Pre- or post-renal failure ```

Answer 339

• AKI necessitating dialysis in approx. 50% of children • Long term renal damage – chronic renal insufficiency, HTN +/or proteinuria • Neurological complications in 17-34% o In 25% of pt o Encephalopathy, seizures, stroke, coma • Cardiac dysfunction o Myocardial dysfunction – CCF, pleural effusions • Intestinal + pancreatic complications o Perforation, bowel necrosis, pancreatitis Prognosis • 50% develop chronic renal complications • 3-5% mortality

Answer 340

• TTP o Low ADAMTS13 (von Willebrand cleaving enzyme) • DIC o Higher likelihood of bleeding manifestations o Often have obvious pre-disposing causes e.g. sepsis o Abnormal coagulation tests

Answer 341

``` • 6-10y Complications • Transient aplastic crisis o If high RBC turnover/destruction (e.g. hereditary spherocytosis, SCD, thalassaemia, IDA) • Infection in pregnancy o Fetal anaemia o Hydrops fetalis o IUD ```

Answer 342

• Roseola infantum o Younger children – 6m-3y o High grade fever lasting for 3-5 days o Non-specific exanthem appears at time of defervescence • Measles o Koplik’s spots o Erythematous maculopapular eruption spreads cephalocaudally + begins to clear within 1w o Prodrome of cough, coryza, conjunctivitis • Rubella o Exanthem of rose-pink macules spreads cephalocaudally o Joint involvement o Lymphadenopathy • Scarlet fever o Preceded by pharyngitis + fever o Exudative pharyngitis, strawberry tongue o Sandpaper texture rash followed by desquamation o Spreads centripetally (towards the centre) o Other skin signs – Pastia’s lines (petechial streaks in skin folds), circumoral pallor • Erysipelas o Unilateral o Warm, tender, indurated rash o Reginal lymphadenopathy • SLE o Cutaneous + systemic symptoms o Involves the nasal bridge • Juvenile dermatomyositis o Progressive weakness o Scaly eruption involving face + eyelids o Photo-sensitivity, nailfold telangiectasias, scaling eruption over the knuckles

Paeds - General Flashcards

(367 cards)