paediatrics anki 1

Question 1

Describe the anatomy of a patient with androgen insensitivity syndrome

Answer 1

Testes in abdomen/inguinal canal
Absence of uterus, vagina, cervix, fallopian tubes and ovaries

Question 2

Describe the possibel presentation of a patient with partial androgen insensitivity syndrome

Answer 2

More ambiguous if partial
Micropenis/clitoromegaly
Bifida scrotum
Hypospadias
Diminished male characteristics

Question 3

Descirbe the symptoms of androgen insensitivity syndrome

Answer 3

can present in infancy with inguinal hernias containing testes’primary amenorrhoea’-puberty
little or no axillary and pubic hair
undescended testes causing groin swellings
breast development may occur as a result of the conversion of testosterone to oestradiol
usually slightly taller than female average

Question 4

Describe the key symptoms of Kawasaki disease

Answer 4

High grade fever and CREAM:
Conjunctivits (bilateral and non exudative)
Rash (non-bullous)
Edema/erythema of hands and feet
Adenopathy (cervical, commonly unilateral and non-tender)
Mucosal involvement (strawberry tongue, oral fissures etc)

Question 5

Describe the management of patients with Kawasaki disease

Answer 5

High dose aspirin
IVIG
Echos and close follow up

Question 6

Describe the rash typically seen in measles

Answer 6

Discrete maculopapular rash becoming blotchy and confluent
Desquamation that typically spares the palms and soles may occur after a week
Rash starts behind the ears then spreads to the whole body

Question 7

Describe the mangement of measles

Answer 7

Mainly supportive-antipyretics
Admission for immunossuprressed or pregnant patients
Inform public health->notifiable disease
Vitamin A to children under 2 years
Ribavirin may reduce duration of symptoms but not routinely recommended

Question 8

Describe the management of people who ocme into contact with patients with the measles

Answer 8

If no immunised: offer MMR-should be given within 72 hours

Question 9

At what age does chicken pox usually occur?

Answer 9

1-9 years

Question 10

Describe the rash associated with chicken pox?

Answer 10

Starts as raised red itchy spots on face/chest which then spreads to rest of body
Progresses into small, fluid filled blisters over a few days
Crusts over and heals, usually leaving no scars

Question 11

Describe the management of chicken pox

Answer 11

Trim nails to prevent scratching and infection
Encourage loose clothing
Cooling measures like oatmeal baths and calamione lotion to reduce tiching
Analgesics and antipyretics for symptom relief
If immunocompromised: IV aciclovir and human varicella-zoster immunoglobulin (VZIG)

Question 12

Describe the epidemiology of rubella

Answer 12

Less common now due to widespread vaccination

Question 13

Describe the presentation of a patient with rubella

Answer 13

Fever: low grade
Coryza
Arthralgia
A rash that begins on the face and moves down to the trunk
Lymphadenopathy, especially post-auricular and suboccipital

Question 14

Describe the rash associated with rubella

Answer 14

Maculopapular rash that starts on the face before spreading to the whole body, usually fades by day 3-5

Question 15

Describe the pathophysiology of diphtheria

Answer 15

Releases an exotoxin encoded by a Beta-prophage
Exotoxin inhibits protein synthesis by catalyzing ADP-ribolysation of elongation factor EF

Question 16

Describe the presentation of a patient with staphylococcal scalded skin syndrome

Answer 16

Superficial fluid-filled blisters, often leading to erythroderma
Desquamation and positive Nikolsky sign
Perioral crusting or fissuring with oral muscoa unaffected
Skin has a ‘scalded’ look due to loss of superficial layers of epidermis
Fever and irritability common due to underlying infection

Question 17

Describe how a patient with meningitis might present?

Answer 17

Fever
Neck stiffness
Severe headache
Photophobia
Rash
Focal neurological deficits.signs of raised ICP

Question 18

Describe the management of meningitis

Answer 18

<3 months: IV amoxicillin(or ampicillin) and IV cefotaxime
>3 months: IV cefotaxime (or ceftriaxone)
Dexamethasone
>3 months and bacterial
Fluids
Cerebral monitoring and supportive therapy
Public health notification and antibiotic prophylaxis

Question 19

Describe the epidemiology of Fifth disease

Answer 19

Common in late winter and early spring

Question 20

Describe the management of Fifth’s disease

Answer 20

Supportive: rest, hydration etc
Hospitalisation for severe complications

Question 21

Describe the epidemiology of pneumonia in children

Answer 21

Highest incidence in infants
Young infants: usually viral
Older children: usually bacterial
Viral causes mroe common in the winter

Question 22

Describe the symptoms of pneumonia in children

Answer 22

Usually preceded by an URTI
Fever
Difficulty breathing
Lethargy
Poor feeding

Question 23

Describe the aetiology/risk factors of asthma

Answer 23

Genetics
Atopy(allergy, eczema)
Allergen exposure
Prematurity
Cold air
Low birth weight
Viral bronchiolitis early in life
Parental smoking

Question 24

Describe the pathophysiology of asthma

Answer 24

Bronchial inflammation->oeadema and increased mucus production and infiltration with eosinophils, mast cells, neutrophils, lymphocytes->bronchial hyperresponsiveness->reversible aurflow obstruction

Question 25

Describe the stepwise management of asthma in children over 5

Answer 25

SABA PRN(salbutamol) ICS prophylaxis(beclomethasone) LTRA(montelukaust) Stop LTRA and add LABA(salmeterol) Switch ICS/LABA for ICS +MART(formeterol and ICS) Add separate LABA High dose ICS(>400mcg) and referral

Question 26

Descirbe the stepwise maangement of asthma in children<5 years

Answer 26

SABA PRN(salbutamol) ICS prophylaxis(beclomethasone)-trial for 8 weeks then refer LTRA(montelukaust) Stop LTRA and add LABA(salmeterol) Switch ICS/LABA for ICS MART(formeterol and ICS) Add separate LABA High dose ICS(>400mcg) and referral

Question 27

Describe the features of a SABA?

Answer 27

Short acting B2 agonists Salbutamol/terbutaline Few side effects, effective for 2-4 hours

Question 28

Describe the features of a LABA

Answer 28

Long acting B2 agonists Salmeterol/formoterol 12 hours Can't be used without ICS

Question 29

Describe the features of ipratropium bromide

Answer 29

Anticholinergic bronchodilator Young infants if other bronchodilators uneffective Treatment for severe acute asthma

Question 30

Describe the features of an ICS

Answer 30

Inhaled corticosteroids Decrease airway inflammation->prophylaxis Systemic side effects: impaired growth, adrenal suppression, altered bone metabolism

Question 31

Describe the features of severe acute asthma

Answer 31

Too breathless to talk/feed Use of accessory neck muscles O2<92%

Question 32

Describe the management of a severe acute asthma attack

Answer 32

O2 via facemask/nasal prongs SABA: 10 puffs nebulised or through spacer Oral prednisolone/Iv hydrocortisone Nebulised ipratroprium bromide if poor response Repeat bronchodilators every 20-30 minutes as needed

Question 33

Describe the management of a life threatening asthma attack

Answer 33

O2 via face masks/nasal prongs Nebulised B2 agonist and ipatropium bromide IV hydrocortisone Senior clinician involvement If poor response: Transfer to HDU->CXR and blood gases IV salbutamol/aminophylline Bolus of IV magenisum sulphate

Question 34

Describe the epidemiology of croup

Answer 34

Children: 6 months-6 years Peak incidence aged 3 Common in autumn Highly prevalent-> affects 1/6 children at least once in their life

Question 35

Describe the presentation of a child with mild croup

Answer 35

Occasional barking cough with no audible stridor No recession Child eating and drinking as normal

Question 36

Describe the presentation of a patient with moderate croup

Answer 36

Frequent barking cough Prominent stridor Marked sternal recession Agitated child Tachycardia

Question 37

Describe the management of mild croup

Answer 37

At home with simple analgesia, fluids, rest etc Single dose dexamethasone in primary care Minimise crying as this will worsen airway obstruction

Question 38

Describe the management of moderate/severe croup

Answer 38

Admission to hospital Monitoring: may need ENT intervention Nebulised adrenaline for severe symptoms Minimise crying

Question 39

Describe the presentation of a patient with bronchiolitis

Answer 39

Sharp, dry cough Laboured breathing/wheezing Tachypnoea/tachychardia Subcostal.intercostal recessions Cyanosis/pallor Fine end-inspiratory crackles and high pitched wheezes Hyperinflation of the chest->prominent sternum, liver displacement downwards Low grade fever, cough, rinhorrhoea, nasal congestion

Question 40

Describe the at home management of bronchiolities

Answer 40

Supportive management-> fluids, simple analgesia etc

Question 41

Describe the management of bronchiolitis in the hospital

Answer 41

Oxygen through nasal cannula/fluids CPAP if respiratory failure Suctioning of secretions If severe: antiviral therapy(ribavarin)

Question 42

Describe the pathophysiology of bronchiolitis obliterans

Answer 42

Bronchioles injured due to infection/inhalation of harmful substance Leads to build up of scar tissue from an overactive cellular repair process Scar tissue obstructs bronchioles-> impaired O2 absorption Can lead to respiratory failure

Question 43

Describe the aetiology and pathophysiology of cystic fibrosis

Answer 43

Mutations in CFTR protein on chromosome 7-> defects in chloride transport across cell membranes-> thick mucus secretions and impaired ciliary function Secretions can block the pancreatic ducts-> enzyme deficiency and malabsorption

Question 44

Describe the management of acute epiglottitis

Answer 44

Immediate senior involvement: ENT, anaesthetics Endotracheal intubation Culturing and examination of throat once airway secure Oxygen Nebulised adrenaline IV antibiotics: 3rd gen cephalosporin: IV cefotaxime/ceftriaxone

Question 45

Describe the pathophysiology of viral induced wheeze

Answer 45

Small airways->inflammation and oedema-> triggers smooth muscles of airway to constrict-> narrowing->wheeze Restricted airway-> respiraotry distress

Question 46

Describe the management of viral induced wheeze

Answer 46

Same as acute asthma treatment SABA via spacer max 4 hourly up to 10 puffs LTRA and ICS via spacer

Question 47

Describe the epidemiology of otitis media

Answer 47

Common, especially in those <4 years Often occurs post viral URTI

Question 48

Describe the pathophysiology of otitis media

Answer 48

Secondary to oedema and narrowing of eustachian tube-> prevents middle ear from draining-> predisposing it to colonisation of bacteria

Question 49

Describe the epidemiology of glue ear

Answer 49

Peaks at 2 years of age Commonest cause of conductive hearing loss in children

Question 50

Describe the management of glue ear

Answer 50

Audiometry to assess extent of hearing loss Conservative-> wait and monitor, give it 3 months to resolve If not resolved in >3 months: refer for grommets and adenoidectomy

Question 51

Describe the pathophysiology of strabismus

Answer 51

In childhood before eyes have fully established connections with brain, brain copes with misalignment byy reducing signal from less dominant eye One dominant eye and one 'lazy' eye Lazy eye becomes progressively more disconnected resulting in ambylopia

Question 52

Describe the presentation of a patient with impetigo

Answer 52

Erythematous macule that vesiculates or pustulates Superficial erosion with a characteristic golden crust

Question 53

Describe the management of localised non-bullous impetigo

Answer 53

Topical hydrogen peroxide 1%Fusidic acid or mupirocin

Question 54

Describe the management of widespread non-bullous impetigo

Answer 54

Topical fusidic acis/mupirocin OR antibioics for 5 days(flucloxacillin) Clarithromycin(allergic) or erythromycin(pregnancy) as alternative antibiotics

Question 55

Describe the management of bullous impetigo

Answer 55

Oral antibiotics or up to 7 days Flucloxacillin Clarithromycin or erythromycin as alternatives

Question 56

Describe the aetiology of toxic shock syndrome

Answer 56

TSS is caused by the exotoxin produced by certain strains of bacteria, acting as a superantigen. This causes polyclonal T cell activation and massive cytokine release, notably IL-1 and TNF-alpha, leading to shock and multi-organ failure.

Question 57

Describe the presentation of a patient with toxic shoxk syndrome

Answer 57

Early, non-specific flu like symptoms Rapid progression to high fever, widespread rash Multi-organ involvement -hypotension for cardiac depression and confusion for encephalopathy

Question 58

Describe the management of toxic shock syndrome

Answer 58

DRABCDE Aggressive fluid and electrolye resusciation Immediate cessation to persisting infection sources Antibiotics: clindamycin and cephalosporin Corticosteroids in some cases

Question 59

Describe the epidemiology of scarlet fever

Answer 59

Children aged 2-6 years Peak incidence: 4 years

Question 60

Describe the rash associated with scarlet fever

Answer 60

Red-pink blotchy macular rash with rough 'SANDPAPER' skin Starts on trunk and spreads outwards

Question 61

Describe the presentation of a patient with scarlet fever

Answer 61

Fever: 24-48 hours Malaise, headache, sore throat, n+v Strawberry tongue Rash

Question 62

Describe the pathophysiology of an ASD

Answer 62

Shunt from left to right Blood continues to flow to lungs so no cyanosis Increased blood flow to right side-> right side overload,right heart failure and pulmonary hypertension Over time pulmonary pressure->systemic pressure->right to left shunt and cyanosis(Eisenmenger syndrome)

Question 63

Describe the pathophysiology of coarctation of the aorta

Answer 63

Narrowing of aortic arch->reduced pressure of blood flowing to distal arteries and increases pressure in the heart and first 3 branches of the aorta(proximal)

Question 64

Describe the signs of coarctation of the aorta in infancy

Answer 64

Tachypnoea and increased work of breathing Poor feeding Grey and floppy baby

Question 65

Describe the signs of coarctation of the aorta in an older child

Answer 65

Left ventricular heave due to left ventricular hypertrophy Underdeveloped left arm where there is reduced blood flow to the left subclavian artery Underdevelopment of the legs Adults: hypertension

Question 66

A neonate is found to weak femoral pulses, how would you further investigate?

Answer 66

Suspect coarctation of aorta Perform a 4 limb blood pressure: high blood pressure in limb supplied from arteries that come before the narrowing and lower blood pressure in lumbs that come after the narrowing

Question 67

Describe the pahophysiology of a ventricular septal defect

Answer 67

Hole in ventricular septum L-R shunt as pressure in left is greater: no cyanosis Right sided overload, RHF, increased flow to pulmonary vessels and pulmonary hypertension Over time, R pressure >L , R->L shunt->cyanosis(Eisenmenger syndrome)

Question 68

Describe the medical management of tet spells

Answer 68

Oxygen Beta blockers IV fluids Morphine Sodium bicarbonate Phenylehrine infusion

Question 69

Define transposition of the great arterie

Answer 69

Attachments of the aorta and pulmonary trunk to the heart are transposed RV pumps blood into the aorta LV pumps blood into pulmonary vessels

Question 70

Describe the epidemiology of transposition of the great arteries

Answer 70

M>F Maternal diabetes

Question 71

Describe the aetiology of transposition of the great arteries

Answer 71

Failure of the aorticopulmonary septum to spiral during septation Aorta arises from RV and pulmonary vessels arise from LV 2 parallel circuits incompatible with life

Question 72

Describe the symptoms of transposition of the great arteries

Answer 72

Cyanosis at/shortly after birth Tachypnoea Poor feeding/weight gain

Question 73

Describe the symptoms of Ebstein's anomaly

Answer 73

Cyanosis SOB and tachypnoea Poor feeding Collapse Heart failure symptoms like oedema

Question 74

Describe the pathophysiology of congenital aortic valve stenosis

Answer 74

Aortic valve usually 3 leaflets, may have 1/2/3/4 leaflets isntead

Question 75

Describe the symptoms of congenital aortic valve stenosis

Answer 75

Asymptomatic Severe:Fatigue SOB Dizziness Fainting Symptoms worse one exertion May present with heart failure a few months after birth

Question 76

Describe the symptoms of congenital pulmonary valve stenosis

Answer 76

Asymptomatic-picked up accidentally Fatigue on exertion SOB Dizziness Fainting

Question 77

Describe the management of congenital pulmonary valve stenosis

Answer 77

Mild-watch and wait-monitor Ballon valvoplasty via venous catheter to dilate valve Open heart surgery

Question 78

Describe the epidemiology of noctunral enuresis

Answer 78

M>F Roughly 2/3 will have a strong family history Children generally healthy Secondary type is associated with psychological stress

Question 79

Describe the management of nocturnal enuresis

Answer 79

General advice: Fluid intake Toileting patterns-> encourage bladder emptying Reward systems->'Star charts' use for good behaviour(like using the toilet before bed), not for 'dry' night 1st line: Enuresis alarm Sensor pads that sense wetness High success rates 2nd line:Desmopressin(Synthetic ADH)

Question 80

Describe the aetiology of typical haemolytic uraemic syndrome

Answer 80

Toxin induces damage to the endothelium of glomerular capillary bed causing thrombotic microangiopathy

Question 81

Describe the aetiology of atypical haemolytic uraemic syndrome

Answer 81

Familial-> dysregulation in complement cascade triggers atypical haemolytic uraemic syndrome

Question 82

Describe the pathophysiology of haemolytic uraemic syndrome

Answer 82

Endothelial injury-> microvascular thrombosis->AKI+MAHA+thrombocytopenia

Question 83

Describe the epidemiology of a UTI

Answer 83

Higher prevalence in males until 3 months, then higher prevalence in females

Question 84

Describe the symptoms of a UTI in infants <3 months

Answer 84

Fever Vomiting Lethargy Irritability Poor feeding Failure to thrive Offensive urine

Question 85

Describe the symptoms of a UTI in an infant aged between 3-12 months?

Answer 85

Fever Poor feeding Abdo pain Vomiting

Question 86

Describe the symptoms of a UTI in a child >1yr?

Answer 86

Frequency Dysuria Abdo pain Haematuria

Question 87

Describe some signs that would point towards an upper UTI

Answer 87

Fever->38 degrees Loin pain and tenderness

Question 88

Describe the management of a UTI in a patient <3 months

Answer 88

Immediate referral to a paediatrician ABX

Question 89

Describe the management of a UTI in a child >3 months

Answer 89

If upper: consider admission, oral cephalosporin/co-amoxiclav for 7-10 days If lower: Oral nitrofurantoin/trimethoprim and safety net(bring back if no improvement in 24-48 hours)

Question 90

Describe the epidemiology of vesicoureteric reflux

Answer 90

1-3% of children Often familial predisposition

Question 91

Describe the presentation of vesicoureteric reflux

Answer 91

Recurrent/atypical UTI's Persistent bacteriuria Unexplained fevers, abdominal/flank pain If severe: renal scarring-> hypertension and CKD

Question 92

Describe the conservative management of vesicoureteric reflux

Answer 92

Prophylactic antibiotics to prevent UTIs Monitor kidney function and growth Treat constipation

Question 93

Describe the surgial management of vesicoureteric reflux

Answer 93

Ureteral reimplantation

Question 94

Describe the epidemiology of Wilms' tumour

Answer 94

Children <5 years Incidence peaks 3-4 years

Question 95

Describe the management of Wilms' tumour

Answer 95

Urgent review(within 48 hours) Nephrectomy Chemotherapy Radiotherapy if advanced

Question 96

Describe the pathophysiology of cryptorchidism

Answer 96

Incomplete migration of testis during embryogenesis from original retroperitoneal position near kidneys to final position in scrotum

Question 97

Describe the management of bilateral undescended at birth testicles

Answer 97

Urgent referral within 24 hours Genetics/endocrine-> rule out congenital adrenal hyperplasia Review at 3 months Refer to surgeons by 6 months Orchidopexy at 6-18 months

Question 98

Describe the management of unilateral cryptorchidism at birth

Answer 98

Review at 6-8 weeks Then review at 3 months Then review at 5 months Refer by 6 months Orchidopexy at 6-18 months

Question 99

Describe the epidemiology of hypospadias

Answer 99

3/1000 Genetic element

Question 100

Describe the features of hypospadias

Answer 100

Ventral urethral meatus Hooded prepuce Chrodee(ventral curve of penis) in severe cases Urethral meatus may open more proximally in severe variants

Question 101

Describe the amangement of hypospadias

Answer 101

Refer to specialist If very distal, may not need treatment Corrective surgery at around 12 months-DO NOT CIRCUMCISE

Question 102

Describe the aetiology of phimosis

Answer 102

STI's Eczema Psoriasis Lichen planus/lichen sclerosis Balanitis

Question 103

Describe the presentation of a patient with phimosis/paraphimosis

Answer 103

Non-retractable foreskin-> may interfere with urination/sexual function Paraphimosis->swollen and painful glanss, tight band of foreskin->ischaemia->discolouration and severe pain

Question 104

Describe the management of phimosis

Answer 104

Wait and see Topical corticosteroids Stretching exercises Personal hygiene

Question 105

Describe the management of paraphimosis

Answer 105

Manual pressure Osmotic agents Puncture techniques Surgical reduction and circumcision Personal hygiene advice

Question 106

Describe the pathophysiology of nephrotic syndrome

Answer 106

Damage to glomerular basement membrane and podocytes results in increaed permeability to protein Lower plasma oncotic pressure->hypoalbuminaemia and oedema

Question 107

Describe the management for nephrotic syndrome

Answer 107

High dose steroids, taper over time Diuretics for oedema Low salt diet

Question 108

Describe a typical presentation of nephrotic syndrome in a child

Answer 108

Well child, insidious onset of pitting oedema, initially periorbital then generalised History of recent URTI Can progress to anorexia, GI changes, ascites, oliguria, SOB Risk of infection/thrombosis

Question 109

Descirbe the aetiology of minimal change disease

Answer 109

Idiopathic in most cases Often seen post viral URTI Drugs: NSAID's, rifampicin Hodgkin's lymphoma Infectious mononucleosis

Question 110

Describe the management of minimal change disease

Answer 110

Oral corticosteroids->prednisolone, tapering regime If poor response: immunosuppressives like ciclosporin/cyclophosphamide Fluids restriction and lower salt intake If high fluid overload: furosemide

Question 111

Describe the prognosis of minimal change disease

Answer 111

1/3 resolve completely with no other episodes 1/3 have further relapses requiring further steroids 1/3 dependent on steroid therapy

Question 112

Describe the pathophysiology of IgA nephropathy

Answer 112

IgA immune complexes become lodged in the mesangium of the glomerulus Combination of IgA deposition, activation of the complement pathway and cytokine release lead to glomerular injury

Question 113

Describe the management of IgA nephropathy

Answer 113

Isolated haematuria+no/minimal protenuria(<500-1000mg/day)+normal GFR: follow up to check renal function Persistent protenuria(>500-1000mg/day)+normal/slightly reduced GFR: initial treatment with ACE inhibitors Active disease: Falling GFR/no response to ACE inhibitors: immunosuppression with corticosteroids

Question 114

Describe the prognosis of IgA nephropathy

Answer 114

30% progress to end stage renal failure

Question 115

Describe the presentation of post strep glomerulonephritis

Answer 115

Haematuria(visible-ribena/coke), oliguria, hypertension +/-oedema 1-3 weeks post infection(s.pyogenes) Some may be asymptomatic

Question 116

Describe the maangement of post strep glomerulonephritis

Answer 116

Usually self resolving Handle AKI

Question 117

Describe some symptoms of hypogonadism

Answer 117

Lethargy Weakness Weight gain Loss of libido Erectile dysfunction Gynaecomastia Depression

Question 118

Describe the management of hypogonadism

Answer 118

Hormone replacement therapy: usualy testosterone injections/oral Monitoring therapy to check for polycythaemia, changes in bone mineral density, prostate status and LFTs

Question 119

Describe the symptoms of Klinefelter's syndrome

Answer 119

Taller height than average Lack of secondary sexual characteristics Small, firm testes Infertile Gynaecomastia-increased risk of breast cancer Reduced libido Wider hips Weaker muscle Subtle learning difficulties

Question 120

Describe the prognosis of Klinefelter's syndrome

Answer 120

Close to normal

Question 121

Describe the epidemiology of Turner's syndrome

Answer 121

Roughly 1/2500 Incidence DOES NOT increase with maternal age Low risk of recurrence

Question 122

Describe the clinical features of Turner's syndrome

Answer 122

Short stature Shield chest, widely spaced nipples Webbed neck High arching palate Wide carrying angle/cubitus valgus Delated/incomplete puberty Primary amenorrhea Bicuspid aortic valve, coarctation of the aorta Infertilitiy

Question 123

Describe the management of Turner's syndrome

Answer 123

Human growth hormone: during childhood to increase height Oestrogen replacement therapy: allow development of secondary sex characteristics, prevents osteoporosis Medical care to manage associated problems, including fertility treatment

Question 124

Describe the epidemiology of Down's syndrome

Answer 124

Common Incidence increases with increasing maternal age, especially if resulting from gamete non-disjunction

Question 125

Describe the facial features of Down's syndrome

Answer 125

Upslanting palepbral fissures Prominent epicanthic folds Brushfield spots in iris Protruding tongue Small, low-set ears Round/flat face Brachycephaly(small head with flat back) Single transverse palmar crease

Question 126

Describe the management of Down's syndrome

Answer 126

MDT approach OT, SALT, Physio, dietitiacn, paeds, GP ENT and audiologist for ear problems Cardiologists for congenital heart disease Opticians for glasses

Question 127

Describe the inheritance of Fragile X

Answer 127

X-linked dominant Males always effects, females may or may not be(have spare copy of FMR1 gene on other X chromosome)

Question 128

Descirbe the features of Noonan syndrome

Answer 128

Webbed neck Pectus excavatum Short stature Pulmonary stenosis

Question 129

Describe the features of Pierre-Robin syndrome?

Answer 129

Micrognathia Posterior displacement of the tongue->upper airway obstruction Cleft palate

Question 130

Describe the features of Prader Willi syndrome

Answer 130

Hypotonia Hypogonadism Obesity Short stature Dysmorphic features Typical history: feeding is a challenge initially due to hypotonia, then becomes hyperphagia

Question 131

Describe the features of William's syndrome

Answer 131

Very sociable Starburst eyes(star like pattern on iris) Wide mouth with big smile Short stature Learning difficulties Friendly, extroverted personality Transient neonatal hyperglycaemia Supravalvular aortic stenosis

Question 132

Describe the features of a patient with Duchenne muscular dystrophy

Answer 132

3-5 yrs present with progressive proximal muscle weakness Calf pseudohypertrophy Gower's sign 30% also have intellectual impairment

Question 133

Describe the prognosis of Duchenne muscular dystrophy?

Answer 133

Most can't walk by age 12 years Uusally survive until 25-30 years Associated with dilated cardiomyopathy

Question 134

Describe the features of myotonic dystrophy?

Answer 134

Progressive muscle weakness Prolonged muscle contraction: patient can't let go after shaking someones hand, or release grip on a doorknob Cataracts Cardiac arrhythmias

Question 135

Describe the features of Angelman syndrome

Answer 135

Fascination with water Happy demeanour Widely spaced teeth Also learnign difficulties, ataxia, hand flapping, ADHD, dysmorphic features, epilepsy etc

Question 136

Describe the management of Angelman syndrome

Answer 136

No cure, MDT holistic care appproach Physio and OT CAMHS Parental education Educational and social services support Anti-epileptic medication if needed

Question 137

Describe the management of prader willi syndrome?

Answer 137

Growth hormone Dietary management to prevent obesity PT and exercise problems Educational interventions to support cognitive development

Question 138

Describe the features of Noonan syndrome

Answer 138

Turner's(webbed neck, wide nipples, short, pectus carinatum/excavatum) Pulmonary valve stenosis Ptosis Triangular shaped face Low set ears Coagulation problems: Factor 9 deficiency

Question 139

Describe the management of William's syndorme?

Answer 139

MDT approach Echos and BP monitoring for cardiac complications: aortic stenosis and hypertension Low calcium diet and avoid calcium and vitamin D supplements: hypercalcaemia

Question 140

Describe the inheritance pattern of osteogenesis imperfecta?

Answer 140

Autosomal dominant

Question 141

Describe the aetiology of osteogenesis imperfecta

Answer 141

Mutations in COL1A1 and COL1A2 which code for the alpha chains of type 1 collagen Decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides

Question 142

Describe the features of a patient with osteogenesis imperfecta

Answer 142

Presents in childhood Fractures following minor trauma Blue sclera Deafness secondary to osteosclerosis Dental imperfections Bone deformities like bowed legs and scoliosis Ligament laxity leading to joint hypermobility

Question 143

Describe the management of osteogenesis imperfecta

Answer 143

Orthopaedic interventions: treat fractures and bone deformities Medical management: bisphosphoonates to increase bone density Physio, dental care, hearing aids, education and counselling

Question 144

Describe the epidemiology of rickets

Answer 144

Most common cause: vitamin D deficiency for a long time Can be caused by: poor nutrition, insufficiency sun exposure and malapbsorption syndromes

Question 145

Describe the features of rickets

Answer 145

Aching bones and joints Lower limb abnormalities(genu varum-bow legs, genu valgum-knock knees) Rickety rosary: swelling at costochondral junction Kyphoscoliosis Craniobates(soft skull bones in early life)Harrison's sulcus

Question 146

Describe the mangement of rickets

Answer 146

Oral vitamin D: 400IU/day for children and young people, 6000IU for 8-12 weeks in children <12 years Calcium and phosphorus supplements may be advised Prevention: breastfeeding babies have formula fortified with vitamin D, breastfeeding woman and children should all take vitamin D supplement

Question 147

Describe the epidemiology of transient synovitis?

Answer 147

3-11 years 2x as common in males

Question 148

Describe the aetiology of transient synovitis

Answer 148

After URTI 1-2 weeks prior

Question 149

Describe the presentation of a patient with transient synovitis

Answer 149

Acute onset of limp, often with an avoidance of weight bearing Pain in hip or referred knee pain Mild to absent fever

Question 150

Describe the management of transient synovitis

Answer 150

Self-limiting, requiring only rest and analgesia Typically significant improvement within 24-48 hours Fully resolve within 1-2 weeks If fever/no improvement, immediate A&E Should be followed up at 48 hours and 1 week to check for improvement

Question 151

Describe the presentation of osteomyelitis

Answer 151

Fever Pain at rest, worse when weight bearing Swelling Erythema of the affected site If chronic: can have history of pain, soft tissue damage etc

Question 152

Describe the management of osteomyelitis

Answer 152

6 weeks flucloxacillin Clindamycin for pencillin allergy Vancomycin if MRSA Surgical debridement may be needed

Question 153

Describe the symptoms of septic arthritis

Answer 153

Acute onset of tender swollen joint Reduced range of movement Systemic symptoms: fever, malaise, chills

Question 154

Describe the management of septic arthritis

Answer 154

Epirical IV abx for 4-6 weeks total as IV first then oral Flucloxacillin 1st line Clindamycin if penicillin allergy Vancomycin if MRSA

Question 155

Describe the epidemiology of Perthes' disease

Answer 155

Predominantly males Aged 4-8 years

Question 156

Describe the aetiology of Perthes' disease

Answer 156

Multifactorial: genetics, trauma and other environemntal factors Disruption in blood supply to the femoral head->avascular necrosis Disruption can be due to clot formation, increased pressure within the bone or damage to the vessels

Question 157

Describe the presentation of a patient with Perthes' disease

Answer 157

Gradual onset of limp Hip pain, which may be referred to the knee No history of trauma(SUFE) Persists for >4 weeks Resitricted hip movements

Question 158

Describe the diagnosis of Perthes' disease

Answer 158

x-ray: -can be normal, may show sclerosis and fragmentation of epiphysis Blood tests normal MRI and technetium bone scan may be done

Question 159

Describe the management of Perthes' disease

Answer 159

Depends on extent of necrosis: <50% of femoral head involved: conservative(bed rest, non-weight bearing and traction) >50%: plaster cast to keep hip abducted or even osteotomy If <6yrs: observation Analgesia

Question 160

Describe the prognosis of Perthes' disease

Answer 160

Most resolve with conservative management

Question 161

Describe the Catterall staging for Perthes' disease

Answer 161

Clinical and histological features only Sclerosis with/without cystic changes and preservation of the articular surface Loss of structural integrity of the femoral head Loss of acetabular integrity

Question 162

Describe the epidemiology of Slipped Upper Femoral Epiphysis

Answer 162

Increasing with growing rates of childhood obesity

Question 163

Describe the presentation of a patient with slipped upper femoral epiphysis

Answer 163

Typicallly adolescent, obese male going through a growth spurt May be a history of minor trauma Hip groin, thigh or knee pain Restricted range of movement in hip: restricted internal rotation in flexion Painful limp Can be bilateral in 10-20% of cases Trendelenburg gait

Question 164

Describe the management of slipped upper femoral epiphysis

Answer 164

Surgical: internal fixation-cannulated screw Prompt treatment important to prevent avascular necrosis of the femoral head

Question 165

Describe the epidemiology of osgood schlatter disease

Answer 165

Adolescents ages 10-15 M>F Higher prevalence in athletes and sports such as gymnastics and basketball

Question 166

Describe the aetiology of osgood schlatter disease

Answer 166

Mechanical stress due to repetitive traciton on tibial tubercle from patellar tendon during rapid growth periods in adolescence Other contributing factors: tight quadriceps muscle and poor flexibility

Question 167

Describe the presentation of a patient with osgood schlatter disease

Answer 167

Anterior knee pain, often localised to tibial tubercle Pain exacerbated by running, jumping, kneeling relieved by rest

Question 168

Describe the prognosis of osgood schlatter

Answer 168

Resolves over time Patient often left with a bony lump on their knee Rarely avulsion fracture

Question 169

Aside from positive Barlow and ortolani tests what should be checked on examination of a patient with developmental dysplasia of the hip?

Answer 169

Leg length symmetry Level of knees when hips and knees are bilaterally flexed Restricted abduction of the hip in flexion

Question 170

Describe the management of developmental dysplasia of the hips

Answer 170

Can self-resolve in 3-6 weeks Pavlik harness: keeps hips in flexed and abducted position If severe: surgical intervention

Question 171

Describe the epidemiology of juvenile idiopathic arthritis

Answer 171

Most common cause of chronic joint pain in children

Question 172

Describe the features of Still's diseasd (systemic juvenile idiopathic arthritis0

Answer 172

Slamon pink rash Fevers Lymphadenopathy Weight loss Joint pain and inflammation-swelling, stiffness, limited ROM Splenomegaly Muscle pain Pleuritis/pericarditis

Question 173

Describe the presentation of a patient with polyarticular JIA

Answer 173

Symmetrical inflammatory arthritis in >=5 joints Can affect small joints of hands and feet as well as large joints like hips and knees Minimal systemic symptoms: may have mild fever, anaemia and reduced growth

Question 174

Describe the epidemiology of oligoarticular JIA

Answer 174

Girls <6 yrs most commonly

Question 175

Describe the presentation of a patient with oligoarticular JIA

Answer 175

Monoarthritis-pain, stiffness, swelling etc Anterior uveitis->refer to ophthalmology Usually no systemic symptoms

Question 176

Describe the presentation of enthesitis related JIA

Answer 176

Enthesitis Anterior uveitis->refer to opthalmology Check for symptoms of psoriatic arthritis IBD symptoms

Question 177

Describe the signs and symptoms of juvenile psoriatic arthritis

Answer 177

Psoriatic arthrtiis Nail pitting Onycholysis Dactylitis Enthesitis

Question 178

Describe the management of juvenile idiopathic arthritis

Answer 178

Paediatric rheumatology with specialist MDT NSAIDS: e.g. ibuprofen Steroids: oral, IM or intra-articular in oligoarthritis DMARDS: methotrexate, sulfasalazine, leflunomide Biologics: TNF inhibitors: etenercept, infliximab, adalimumab

Question 179

Describe the aetiology of torticollis

Answer 179

Unclear Often thought to be related to posture or hevay carrying loads

Question 180

Describe the management of torticollis

Answer 180

Reassurance: self resolve within 24-48 hours Simple anaglesics Physio Intermittent heat or cold packs to reduce pain and spasms, sleep on firm pillow and maintain good posture Advice against cervical collar

Question 181

Describe the epidemiology of adolescent idiopathic scoliosis

Answer 181

10-18 years

Question 182

Describe the signs and symptoms of a patient with scoliosis

Answer 182

Postural asymmetry Absent or minimal pain No neurological symptoms Paraspinal prominences on forward bending Shoulder asymmetry Waist line asymmetry

Question 183

Describe the management of scoliosis

Answer 183

Determined by Cobb angle <10 degrees: regular exercise 11-20 degrees: observational monitoring and regular exercise 21-45 degrees: bracing and regular exercise >45 degrees: surgical spine arthrodesis and regular exercise

Question 184

Describe the aetiology of discoid meniscus

Answer 184

Developmental anomaly before birth

Question 185

Describe the presentation of a patient with a discoid meniscus

Answer 185

Visible or audible palpable snap on terminal extension(10-20 degrees) along with pain or swelling and locking Click during movement

Question 186

Describe the management of discoid meniscus

Answer 186

Physio If severe: arthroscopic partial meniscectomy

Question 187

Describe the pathophysiology of leukaemia

Answer 187

Genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell Excessive production can suppress other cell lines->pancytopenia Pancytopenia: Anemia, leukopenia, thrombocytopenia

Question 188

Describe the presentation of a patient with leukaemia

Answer 188

Anaemia Neutropenia: high WCC but low neutrophil levels Frequent infections Thrombocytopenia resulting in bleeding Hepatosplenomegaly Bone pain May have DIC or thrombocytopenia-petechiae

Question 189

Descire the management of tumour lysis syndrome

Answer 189

Good hydration and urine output before chemo Allopurinol or rasburicase to suppress uric acid levels

Question 190

Describe the management of CML

Answer 190

Tyrosine kinase inhibitors(associated with BCR-ABL defect): imatinib Hydroxyurea Interferon alpha Allogenic bone marrow transplant

Question 191

Describe the management of ALL

Answer 191

Combinatino chemo CNS prophylactic agents Maintainence therapy

Question 192

Describe the ppresentation of a patient with CLL

Answer 192

Often asymptomatic-incidental lymphocytosis Infections, bleeding, weight loss, anaemia-warm autoimmune haemolytic anaemia Non tender symmetrical lymphadenopathy

Question 193

Describe the prognosis of CLLL

Answer 193

Variable 1/3 don't progress 1/3 progress slowly 1/3 progress actively

Question 194

Describe the epidemiology of paediatric brain tumours

Answer 194

Leading cause of cancer related deaths in children Most common solid organ malignancy in paediatric population

Question 195

Describe the presentation of a child with a brain tumour

Answer 195

Persistent headaches which are worse in the morning Signs of raised ICP: nausea, vomiting and reduced consciousness Seizure in an older child with no fever and no history of seizures Focal neurological deficits

Question 196

Describe the presentation of a patient with a neurblastoma

Answer 196

Abdominal mass Pallor, weight loss Bone pain, limp Hepatomegaly Paraplegia Proptosis

Question 197

Describe the epidemiology of pyloric stenosis

Answer 197

1-3/1000 live births 6-8 weeks M>F First-borns most commonly

Question 198

Describe the aetiology of pyloric stenosis

Answer 198

Genetics Prematurity

Question 199

Describe the presentation of a patient with pyloric stenosis

Answer 199

Postprandial vomiting: non bile stained, projectile, worsens after feeds Palpable mass: hypertrophied pyloric sphincter palpable as smooth olive sized mass in RUQ/mid epigastric May have constipation and dehydration

Question 200

Describe the management of pyloric stenosis

Answer 200

Supportive:nil by mouth and IV fluids Surgical: Ramstedt pyloromyotomy(cuts hypertrophic sphincter and widens gastric outlet)

Question 201

Describe the epidemiology of mesenteric adenitis

Answer 201

More prevalent in children and adolescents Link with viral pathogens-follows rep URTI

Question 202

Describe the aetiology of mesenteric adenitis

Answer 202

Viral: EBV, adeno, entero Bacteria: Yersinia, camylobacter Other: mycobacterium, salmonella, strep

Question 203

Describe the presentation of a patient with mesenteric adenitis

Answer 203

Diffuse abdominal pain: often mistaken for appendicitis Low grade fever Generalized abdominal tenderness Pharyngitis.sore throat Children: usually good overall health and unaltered appetitie

Question 204

Describe the presentation of a patient with intussusception

Answer 204

Paroxysmal, severe colicky pain, often causing the child to draw up his legs Lethargy and decreased activity between pain episodes Refusal of feeds Vomiting: may be bile stained depending on location of intussusception 'red current jelly' stool-> blood stained mucus Abdominal distention Palpation: sausage shaped mass in RUQ

Question 205

Describe the management of intussusception

Answer 205

If stable: rectal air insufflation or contrast enema Surgery

Question 206

Describe the epidemiology of intestinal malrotation

Answer 206

Considered rare-critical Symptomatic malrotation most commonly presents in neonates

Question 207

Describe the aetiology of intestinal malrotation

Answer 207

Ariuses due to abnormal rotation and fixation of the mdigut during embryonic development Usually happens during 4th-12th weeks gestation Genetics may play a role

Question 208

Describe the features of GORD in children

Answer 208

Typically before 8 weeks Vomiting regurgitation (milky vomits after feeds, can occur after being laid flat) Distress, crying or unsettled after feeding Poor weight gain Vomiting Reluctance to feed Chronic cough

Question 209

Describe the management of GORD in children

Answer 209

Lifestyle: Position during fees: head at 30 degrees Sleep on backs to reduce risk of cot death Ensure not overfed Dietary:Thickened feed(containig rice starch, cornstarch etc)-if breastfeeding Alginate therapy(Gavison mixed with feeds)-NOT for use at same time as thickened feed PPI(e.g. omeprazole) only in certain situations

Question 210

Describe the epidemiology of appendicitis in children

Answer 210

Uncommon under 3 years One of the most common acute surgical problems in children Common in populations with a western diet

Question 211

Describe the aetiology of appendicitis

Answer 211

Obstruciton within appendix Can be fibrous tissue, foreign body, hardened stool Subsequent bacterial multiplication and infiltration can lead to tissue damage, pressure induced necrosis, perforation Gangrene: thrombosis in appendix's arterial supply, specifically ileocolic artery

Question 212

Describe the symptoms of a patient with appendicitis

Answer 212

Central abdominal pain radiating to the right iliac fossa Low grade pyrexia Minimal vomiting, nausea

Question 213

Describe the management of a patient with appendicitis

Answer 213

Prophylactic antibiotics: full sepsis 6 if appropriate Laparoscopic appendicectomy If evidence of perforation: open with lavage in theatre If negative imaging: IV fluids and abx

Question 214

Describe the epidemiology of biliary atresia

Answer 214

F>M Neonates only: perinatal(1-2 weeks of life) or postnatal(208 weeks)

Question 215

Describe the pathophysiology of biliary atresia

Answer 215

Either obliteration or discontinuity within the extrahepatic biliary system resulting in obstruction of bile flow Results in neonatal presentation of cholestasis

Question 216

Describe the presentation of a patient with biliary atresia

Answer 216

First 2 weeks of life Jaundice beyond physiological 2 weeks Dark urine and pale stools FTT

Question 217

Describe the management of biliary atresia

Answer 217

Surgical: Kasai procedure-hepatoportenterostomy Post surgery: abx and bile acid enhancers

Question 218

Describe the prognosis of biliary atresia

Answer 218

Good if surgery Liver transplant in 1st 2 years of life if failure

Question 219

Describe the epidemiology of febrile convulsions

Answer 219

Common: 3% of children Children 6 months and 5 yrs

Question 220

Describe the aetiology of febrile convulsions

Answer 220

Abrupt rise in body temperature often related to an indection& Can be triggered by bacterial and viral infections Mc: URTI, ear infections and childhood exanthems

Question 221

Describe the symptoms of a febrile convulsion

Answer 221

High fever: >38 degrees Tonic-clonic , LOC Post ictal drowsiness/confusion

Question 222

Define constipation in children

Answer 222

<= 3 stools/week or significant difficulty in passing stools

Question 223

At what age is encopresis considered pathological?

Answer 223

>4 years

Question 224

Describe the management of constipation in children

Answer 224

Correct reversible causes: increase fibre and hydration Laxatives(movicol first line) Faecal impaction with disimpaction regimen Encourage and praise visiting toilet Laxatives used short term then weaned off

Question 225

Describe the epidemiology of cerebral palsy

Answer 225

Mc cause of major motor impairment Higher in areas with worse ante/perinatal care Higher in premature infants and those of multiple pregnancies

Question 226

Describe the features of spastic cerebral palsy

Answer 226

Increased tone and reflexes(flexed hip and elbow, 'clasp-knife' spasticity 'Scissor' gait Can be monoplegic, diplegic or hemiplegic

Question 227

Describe the features of dyskinetic cerebral palsy

Answer 227

Athetoid movements and oro-motor problems Can exhibit signs of parkinsonism

Question 228

Describe the features of ataxic cerebral palsy

Answer 228

Typical cerebellar signs Uncoordinated movements

Question 229

Describe the management of cerebral palsy

Answer 229

MDT approach-physio, OT, SALT, dieticians Oral diazepam Oral baclofen-muscle spasms Botulinum toxin type A-contractures Surgery Orthopaedic surgery General surgery e.g. for PEG fitting

Question 230

Describe the prognosis of cerebral palsy

Answer 230

Varibale impact on QOL-difficulties with mobility and communication Associated with reduced life expectancy

Question 231

Describe the epidemiology of haemolytic disease of the newborn

Answer 231

Rare but serious Most common in pregnancy where there is blood group incompatibility beetween the mother and fetus

Question 232

Describe the aetiology of haemolytic disease of the newborn

Answer 232

Immune response following rhesus or ABO blood group incompatibility between mtoehr and fetus Sensitisation events include: antepartum haemorrhage, placental abruption, ECV, miscarriage/termination, ectopic pregnancy, delivery

Question 233

Describe the features of haemolytic disease of the newborn

Answer 233

Hydrops fetalis appearing as fetal oedema in at least 2 compartments, seen on antenatal USS Yellow coloured amniotic fluid due to excess bilirubin Neonatal jaundice and kernicterus Fetal anaemia causing skin pallorr Hepato/spleno-megaly Severe oedema if hydrops fetalis whilst in utero

Question 234

Describe the features of a cephalohaematome

Answer 234

Commonly affects parietal region Doesn't cross suture lines May take up to 3 months to resolve-managed conservatively

Question 235

Describe the features of caput seccedaneum

Answer 235

Soft, puffy swelling due to localised oedema Crossess suture lines Resolves within days-no tx needed

Question 236

Describe the interpretation of the APGAR score

Answer 236

0-3: very low 4-6: moderate low 7-10: good health

Question 237

Describe the key points of paediatric BLS

Answer 237

Unresponsive-> shout for help Open airway Look, listen, feel for breathing 5 rescue breaths Check for signs of circulation 15 chest compressions: 2 rescue breaths

Question 238

Describe the pathophysiology of acute respiratory distress syndrome

Answer 238

Acute form of resp failure occuring within 1 week of trigger Diffuse bilateral alveolar injury with endothelial disruption and leakage of fluid into alveoli from pulmonary capillaries Decrease in surfactant production but different to neonatal respiratory distress syndrome

Question 239

Describe the clinical features of acute respiratory distress syndrome

Answer 239

Acute onset and severe, critically unwell within identifiable trigger like illness or trauma Severe dyspnoea Tachypnoea Confusion and presyncope secondary to hypoxia Diffuse bilateral crepitations on ausculation

Question 240

Describe the management of acute respiratory distress syndrome

Answer 240

Generally ITU Intubation/ventilation to treat hypoxaemia Hameodynamic support: aim for MAP>60mmHG, vasopressors, transfusions if Hb<70 Enteral nutrition support DVT prophylaxis Treat underlying cause PPI to prevent gastric ulcers

Question 241

Describe the epidemiology of neonatal respiratory distress syndrome

Answer 241

Premature infants

Question 242

Describe the symptoms of neonatal respiratory distress syndrome

Answer 242

Within minutes of birth Rapid, laboured breathing Flaring nostrils Gruntig sounds during exhalation Indrawing of chest wall Cyanosis May progress to apnoea and hypoxia due ot fatigue

Question 243

Describe the management of neonatal respiratory distress syndrome

Answer 243

Intratracheal instillation of artificial surfactant Supplemental oxygen/respiratory support: CPAP or mechanical ventilation Caffeine Supportive care: maintain body temperature, nutrition, manage other complications

Question 244

Describe the causes of late onset neonatal sepsis

Answer 244

S epidermis S. aureus P.aeruginosa Klebsiella Enterobacter Pseudomonas E.Coli

Question 245

Describe the management of neonatal sepsis

Answer 245

IV benzylpenicillin and gentamicin(monitor levels) Re-measure CRP 18-24 hours after presentation in patients given abx Maintain adequate oxygenation, fluid, glucose levels, metabolic acidosis

Question 246

Describe the aetiology of transient tachypnoea of the newborn

Answer 246

C-ssection Passage through birth canal applies external pressure on thorax, aiding in expelling the birth. and increases fetal adrenaline which helps with breathing(don't have in C-section) Suboptimal epithelial clearance mechanisms

Question 247

Describe the presentaiton of transient tachypnoea of the newborn

Answer 247

Resp distress: Tachypnoea(>60bpm) Increased work of breathing Potential desaturation/cyanosis

Question 248

Describe the management of transient tachypnoea of the newborn

Answer 248

usually self-resolving within 3 days of life Oxygen to manage hypoxemia Monitor for progression to penumonia or NRDS

Question 249

Describe the aetiology of meconium aspiration syndrome

Answer 249

Fetal distress/hypoxia-> intestinal relaxation+anal sphincter relaxation

Question 250

Describe the signs and symptoms of meconium aspiration syndrome

Answer 250

Presence of meconium-stained liquor during rupture of membranes or at birth(yellow/green apppearance of amniotic fluid) Green staining of infant's skin, nail beds or umbilical cord Respiratory distress: tachypnoea, grunting, noisy breathing, cyanosis Crackles on auscultation Limp infant/low APGAR scores Barrel shaped chest

Question 251

Describe the management of meconium aspiration syndrome

Answer 251

Gentle suctioning of mouth/nose to remove any visible residual meconium Abx to reduce infection Transfer baby to ICU if needed for careful monitoring and oxygen administration If severe: artificial ventilation might be needed

Question 252

Describe the clinical features of neonatal hypoglyacaemia

Answer 252

Asx Autonomic: jitteriness, irritable, tachypnoea, pallor Neuroglycopenic: poor feeding/sucking, weak cry, drowsy, hypotonia, seizures Others: apnoea, hypothermia

Question 253

Describe the management of asymptomatic neonatal hypoglycaemia

Answer 253

Encourage normal feeding(breast/bottle) Monitor blood glucose

Question 254

Describe the management of symptomatic/severe neonatal hypoglycaemia

Answer 254

Admit to neonatal unit IV infusion of 10% dextrose

Question 255

Describe the management of gastroshisis

Answer 255

Attempt vaginal delivery Newborns to theatre as soon as possible after delivery(within 4 hours)-usually requires multiple surgeries to reposition organs back into abdominal cavity and close abdominal wall defect Abx if infection, IV fluids/nutrients

Question 256

Describe the pathophysiology of gastroschisis

Answer 256

Week 4 of gestation: lateral folds fail to fuse-> hole in abdominal wall-> organs protrude

Question 257

Describe the pathophysiology of exomphalos

Answer 257

Midgut herniates through umbilicus->pulls layer of peritoneum into umbilical cord to properly develop due to insufficient space in adbominal cavity->midgut doesn't return

Question 258

Describe the management of exomphalos

Answer 258

C-section-> reduce risk of sac rupture Staged surgical repair

Question 259

Describe the pathophysiology of duodenal atresia

Answer 259

Failure in duodenal vacuolization During fetal development duodenal epithelium proliferates rapidly->complete duodenal obstruction->apoptosis of excess cells-> formation of small vacuoles which fuse-> re-establish duodenal passageway

Question 260

Describe the aetiologuy of oesophageal atresia and tracheo-oesophageal fistula

Answer 260

Associated with: VACTER syndrome CHARGE Chromosomal abnormalities DiGeorge syndrome Neural tube defects

Question 261

Describe the management of oesophageal atresia

Answer 261

Surgical: connect parts of oesophagus and close off fistula Post op: monitor for complications Manage nutritional and respiratory support

Question 262

Describe the epidemiology of necrotising enterocolitis

Answer 262

First 3 weeks of life in premature neonates Fatal in 1/5, significant morbidity

Question 263

Describe the signs and symptoms of necrotising enterocilitis

Answer 263

Vomiting(may be bile streaked) Feed intolerance Bloody, loose stools Abdo distention Absent bowel sounds Systemic compromise-> acidodis on blood gas, resp distress

Question 264

Describe the management of necrotising enterocilitis

Answer 264

Nil by mouth NG tube for gastric decompression Broad spectrum abx Supportive: IV fluids and ventilation Surgical: resection of necrotic sections of bowel

Question 265

Describe the pathophysiology of congenital diaphragmatic hernia

Answer 265

Usually a failure of the pleuroperitoneal cavity to close completely

Question 266

Describe the presentation of congenital diaphragmatic hernia

Answer 266

Cyanosis soon after birth Tachypnoea and tachycardia Asymmetry of chest wall Absent breath sounds on one side-usually left with heart shifted to right Bowel sounds audible over chest wall

Question 267

Describe the management of congenital diaphragmatic hernia

Answer 267

Paeds emergency-> reduce pressure in chest Resus in 'head up' position Endotracheal intubation and careful fluid support Avoid bag and mask-> stomach and intestines become distended with air and impair lung function Oro-gastric tube Surfactant Open surgical repair of diaphragm when stable

Question 268

Describe the management of neonatal jaundice

Answer 268

Admit urgently if: <24 hours, >7days and unwell, premature Might not need any treatment if well and likely physiological Increase fluid intake Monitor bilirubin levels Treat underlying cause Phototherapy Exchange transfusion

Question 269

Describe the signs ans symptoms of neonatal jaundice

Answer 269

Yellowing of skin and eyes Poor feeding Lethargy Severe: kernicterus If due to hepatitis/biliary atresia: dark stools and pale urine

Question 270

Describe the symptoms of toxoplasma gondii infeciton in pregnancy and neonates

Answer 270

Causes toxoplasmosis Mother: Fever, fatigue Fetus: chorioretinitis, hydrocephalus, rash, diffuse intracranial calcifications

Question 271

Describe the symptoms of rubella in pregnancy and neonates

Answer 271

Mother: lymohadenopathy, polyarthritis, rashes Fetus: congenital rubella syndrome: deafness, cataracts, rash, heart defects

Question 272

Describe the symptoms of CMV infection in pregnancy and neonates

Answer 272

Mother: Mild sx Infants: rashes, deafness, chorioretinitis, seizures, microcephaly, intracranial(periventricular) calcifications

Question 273

Describe the symptoms of a HSV infection in neonates

Answer 273

Blisters and inflammation of the brain: meningoencephalitis

Question 274

Describe the epidemiology of listeria

Answer 274

Found in many food products, especially unpasteurised dairy products and soft cheeses Vertical transmission from mother to fetus through placenta or during delivery

Question 275

Describe the signs and symptoms of listeriosis in neonates

Answer 275

Neonatal sepsis Meningitis Respiratory distress due to aspiration of infected amniotic fluid Chorioamnionitis Premature labour Stillbirth

Question 276

Describe the management of listeriosis

Answer 276

Abx: ampicillin + aminoglycoside(gentamicin)

Question 277

Describe the epidemiology of cleft lip/palate

Answer 277

Mc congenital deformity affecting orofacial structures

Question 278

Describe the pathophysiology of cleft lip/palate

Answer 278

Polygenic inheritance Failure of frontal-nasal and maxillary processes to fuse: cleft lip Failure of palatine processes and nasal septum to fuse: cleft palate

Question 279

Describe the management of cleft lip/palate

Answer 279

Cleft lip repaired earlier than cleft palate: 1st week-3 months Cleft palate: 6-12 months

Question 280

Describe the local features of HSV in a neonate

Answer 280

Vesicular lesions on the skin Eye involvement Oral mucosa involvement without internal organ involvement

Question 281

Describe the management of HSV in neonates and pregnancy

Answer 281

Neonates: Parenteral acyclovir and intensive supportive therapy Elective C-section/intrapartum IV acyclovir if active primary herpes lesions on mother at term or outbreak within 6 weeks of labour

Question 282

Describe the features of bronchopulmonary dysplasia

Answer 282

Low oxygen saturations Increased work of breathing Poor feading and weight gain Crackles and wheeze in chest on auscultation Increased susceptibility to infection

Question 283

Describe the management of bronchopulmonary dysplasia

Answer 283

Typically leave neonatal unit on low dose O2 at home Followed up after 1 yr to wean off RSV protection-> monthly injections of palivizumab for certain babies

Question 284

Describe the clinical features of typical(petit mal) absence seizures

Answer 284

Onset: 4-8 years, often doesn't persist into adulthood Duration few-30 secs, no warning, quick recovery, often lots in one day

Question 285

Describe the clinical features of West syndrome/infantile spasms

Answer 285

4-8 months Flexion of head, trunks, limb-> extension of arms(Salaam attack), lasts 1-2 secs, repeat up to 50 times clusters-'jack-knife spasms) Progressive mental handicap->associated with regression and high morbidity

Question 286

Describe the prognosis of West's syndrome

Answer 286

Poor prognosis-> intellectual disability Many develop Lennox-Gastaut syndrome later one

Question 287

Describe the clinical features of Dravet's syndrome

Answer 287

Convulsive status epilepticus seizures during intercurrent illness or following vaccination Refractory to antiepileptic treatment Associated with loss of developmental milestones and ASD

Question 288

Describe the prognosis of Dravet's syndrome

Answer 288

Estimated 15% mortality by age 20yrs

Question 289

Describe the features of Lennox Gastaut syndrome

Answer 289

May be an extension of infantile spasms Onset 1-5 yrs Tonic, atonic and atypical absence(last longer and have gradual onset) seizures Idiopathic: normal psychomotor development Symptomatic: associated neurological abnormalities

Question 290

Describe the management of Lennox Gastaut syndrome

Answer 290

Ketogenic diet Often refractory to AED's Sodium valproate, lamotrigine, clobazam Surgical: corpus callostomy and vagus nerve stimulation

Question 291

Describe the features of juvenile myoclonic epilepsy

Answer 291

Onset in adolescent and early adulthood, more common in girls Sudden shock like myoclonic seizures that progress into generalised tonic-clonic seizures Also absence seizures Often in morning/after sleep deprivation

Question 292

Describe the management of juvenile myoclonic epilepsy

Answer 292

Usually good response to AED's: sodium valproate and lamotrigine

Question 293

Describe the features of panayiotopoulos syndrome

Answer 293

Autonomic seizures with ictal vomiting, pupil dilation and syncope lasing up to 30 minutes Vision changes: flashing lights, blurring, loss of vision3-6yrs onset Typicaly stop after 2-3 years, otherwise normal development

Question 294

Describe the features of bening rolandic epilepsy

Answer 294

Mc in childhood, mc in males 3-10yrs Paraesthesia(e.g.unilateral face) on waking up Parents might notice tonic seizure overnight or find child on floor

Question 295

Describe the general management of childhood epilepsy

Answer 295

If reversible, treat causeAED's Ketogenic/low glycaemic diet Surgery if refractory/caused by tumours MDT Emergency seizure plans for home and school, educate parents

Question 296

Describe the investigations/managment for developmental delay

Answer 296

Clinical and neuro exam Genetics, metabolic screen, MRI/CT, hearing/vision assessments Refer to specialist Early intervention services: SALT, OT, Physio, educational support etc

Question 297

At what age is it concerning for a child to not be sitting without support?

Answer 297

12 months

Question 298

At what age is it concerning for a child to not be walking unsupported?

Answer 298

18 months

Question 299

Describe fine motor and vision milestones with regards to brick buillding

Answer 299

15 months: tower of2 18 months: 3 2 years: 6 3 years: 9 Adds a brick every 3 months

Question 300

Describe fine motor and vision milestones with regards to drawing

Answer 300

18 months: circular scribble 2 years: vertical line 3 yrs: circle 4 yrs: cross 5 yrs: square and triangle

Question 301

Describe the major soical behavious and play milestones

Answer 301

6 weeks: smile 3mths: laughs 6mths: not shy 9 mths: shy, takes everything to mouth

Question 302

Describe the major social behaviour and play milestones with regards to feeding

Answer 302

6 months: hand on bottle 12-15 months: uses spoon, drinks form cup 2 yrs: doesnt spill with cup/spoon 3: spoon and fork 5: knife and fork

Question 303

Describe the major social behaviour and play milestones with regards to dressing

Answer 303

12-15: helps getting dressed/undressed 18mths: takes off shoes 2 years: puts on hats and shoes 4 yrs: can dress and undress independently except for laces and buttons

Question 304

Describe the major social behaviour and play milestones with regards to play

Answer 304

9mths: 'peek-a-boo' 12 mths: waves bye bye, plays pat a cake 18 mths: plays alone 2 yrs: plays near others 4 yrs: plays with others

Question 305

Describe the aetiology of retinoblastoma

Answer 305

Mutations in tumour suppressor gene RB1 Hereditary: germline mutations Non-hereditary: somatic

Question 306

Describe the signs and symptoms of retinoblastoma

Answer 306

Leukoria(white pupil when you shine a light) Strabismus Ocular inflammation and redness Deteriorating vision Failure to thrive Eye enlargement: developing countries

Question 307

Describe the management of retinoblastoma

Answer 307

Systemic chemo 1st line Enucleation(remove eye-extensive disease with threat of extraocular spread) Orbital exenteration Radio Genetic counselling

Question 308

Describe the epidemiology of neuroblastoma

Answer 308

Mc malignancy in children <5yrs

Question 309

Describe the pathophysiology of neuroblastoma

Answer 309

Arises from the neural crest tissue of adrenal medulla(mc) and sympathetic nervous system Often starts in abdomen and spreads to bones, liver, skin (haematogenous and lymphatic spread) Catecholamine secreting tumour

Question 310

Describe the clinical features of neroblastoma

Answer 310

Mass effect of primary tumour: constipation, abdo distention General: FTT, fatigue, malaise Sx of metastasis: Spine: numbness, weakness, loss of movement Neck: breathlessness, Horner's Bone: pain and swelling Bone marrow: leukopenia(infections), thrombocytopenia(bleeding/bruising), anaemia(SOB, pallor) Skin: small raised, blue/black discoloured lumps Liver: hepatomegaly and abdominal pain

Question 311

Describe the NICE referral pathway for suspected neuroblastoma

Answer 311

Very urgent referral(<48 hours) in children with palpable abdominal mass or unexplained enlarged abdominal organ OR Unexplained haematuria

Question 312

Describe the management of neuroblastoma

Answer 312

Surgery followed by chemo Radiation to primary site Isotretinoin-> maintenance therapy-promotes differentiation of neuroblastoma cells into normal cells

Question 313

Describe the signs and sympotms of hepatoblastoma

Answer 313

Abdominal mass Poor appetitie Weight loss Lethargy Fever Vomiting Jaundice

Question 314

Describe the management of hepatoblastoma

Answer 314

Chemo Surgery

Question 315

Describe the epidemiology of osteosarcoma

Answer 315

Mc primary malignant bone tumour in children and adolescents Slight M:F predominance Incidence peaks in adolescence-growth spurts

Question 316

Describe the signs and symptoms of osteosarcoma

Answer 316

Prolonged bone pain, often initially mistaken for growing pains/sports injuries Bone swelling-usually in region of long bone metaphyses Decreased ROM Pathological fractures Mc knee or proximal humerus Systemic sx

Question 317

Describe the management of osteosarcoma

Answer 317

Surgical resection and limb salvage surgery Radiotherapy Chemo: multi-agent: methotrexate Follow up imaging

Question 318

Describe the epidemiology of Ewing's sarcoma

Answer 318

2nd most prevalent bone cancer in children and adolescents

Question 319

Describe the signs and symptoms of Ewing's sarcoma

Answer 319

Nocturnal bone pain Palpable mass/swelling Restricted joint mobility Systemic: fever, weight loss, fatigue

Question 320

Describe the management of Ewing's sarcoma

Answer 320

Chemo 1st line Surgery Radiotherapy

Question 321

Describe the epidemiology of Hodgkin's lymphoma

Answer 321

Bimodial distribution: mc in 3rd and 7th decades

Question 322

Describe the features of Hodgkin's lymphoma

Answer 322

Non-tender lymphadenopathy, asymmetrical May be painful after drinking-characteristic B symptoms + pruritus Hepato/splenomegaly

Question 323

Describe the lugano classification for Hodgkin's lymphoma

Answer 323

Stage 1: single lymphatic site Stage 2: >2 lymph nodes on same side as diaphragm Stage 3: Involvement on both sides of diaphragm OR above diaphragm with splenic involvement Stage 4: Disseminated with >;=1 extra lymphatic organs etc A: asx B: B symptoms S: Splenic involvement E: extranodal contiguous extension

Question 324

Describe the management of Hodgkin's lymphoma

Answer 324

Chemoradiotherapy

Question 325

Describe the features of a medulloblastoma including sx

Answer 325

Mc malignant brain turmour in children Typically arises in cerebellum Sx: headaches, vomiting, ataxia and cranial nerve deficits

Question 326

Describe the features of a pilocytic astrocytoma including sx

Answer 326

Mc benign brain tumour in children Often in cerebellum or optic pathway Sx: headaches, nausea, visual disturbances and balance issues

Question 327

Describe the features of a ependymoma including sx

Answer 327

Arises from ependymal cells lining the ventricles or central canal of the spinal cord Common locations: posterior fossa, spinal cord Sx: hydrocephalus, headache, nausea, balance issues

Question 328

Describe the features of a craniopharyngioma including sx

Answer 328

Benign tumour near the pituitary gland and hypothalamus Sx: endocrine dysfunction, vision problems, growth delays

Question 329

Describe the management of paediatric brain tumours

Answer 329

MDT Steroids-> reduce intracranial swelling Anticonvulsants Chemo, radiotherapy Surgical intervention-> including ventriculoperitoneal shunts or drains to treat hydrocephalus

Question 330

Describe the prognosis of paediatric brain tumours

Answer 330

Good for CNS tumours, pilocytic astrocytomas and craniopharyngiomas Poorer prognosis with gliomas

Question 331

Describe the aetiology of von Willebrand's disease

Answer 331

Usually genetic mutation that results in a deficiency/dysfunction of VWF-usually autosomal dominant inheritance

Question 332

Describe the signs and symptoms of von Willebrand's disease

Answer 332

Excess/prolonged bleeding from minor wounds/post-op Easy bruising Menorrhagia Epistaxis GI bleeding

Question 333

Describe the management of von Willebrand's disease

Answer 333

Desmopressin: temporarily increases F8 and VWF levels by releasing endoethlial stores TXA for minor bleeding VWF-F8 concentrates if above unsuccessful and bleeding persistent

Question 334

Describe the epidemiology of thalassaemia

Answer 334

Believed to give some protection against malaria-> found in Mediterranean Europe, central africe, Middle East, india and southeast asia

Question 335

Describe the inheritance of alpha thalassaemia

Answer 335

Autosomal recessive

Question 336

Describe the pathophysiology of alpha thalassaemia

Answer 336

non-functioning copies of the 4 alpha globin genes on chromosome 16 Symptomatic when >=2 copies of gene are lost

Question 337

Describe the features of alpha thalassaemia if 1 or 2 alpha globulin alleles are affected

Answer 337

Alpha thalassaemia trait-mild asx anaemia Bloods: hypochromic + microcytic but Hb usually normal

Question 338

Describe the features of alpha thalassaemia if 3 alpha globulin alleles are affected

Answer 338

Symptomatic haemoglobin H disease Hypochromic microcytic anemia with splenomegaly Normal survival

Question 339

Describe the features of alpha thalassaemia if all 4 alpha globulin alleles are affected

Answer 339

Incompatible with life Lack of alpha globin-> excess gamma chains-> Hb Barts Hydrops fetalis

Question 340

Describe the signs and symptoms of alpha thalassaemia

Answer 340

Jaundice Fatigue Facial bone deformities

Question 341

Describe the management of alpha thalassaemia

Answer 341

Blood transfusions Stem cell transplant Splenectomy may be used especially in Hb H

Question 342

Describe the pathophysiology of beta thalassaemia

Answer 342

Non-funcitoning copies of the 2 beta globin genes-chromosome 11 Beta thalassaemia minor(trait)-> one functional and one dysfunctional Beta thalassaemia major: complete absence of beta globin synthesis

Question 343

Describe the signs and symptoms of beta thalassaemia major

Answer 343

Presents in 1st yr of life with FTT and hepatosplenomegaly Severe symptomatic anaemia Maxillary overgrowth and prominent parieta/frontal bones-> chipmunk face Frontal bossing-> 'hair on end' appearance on skull x ray

Question 344

Describe the management of beta thalassaemia major

Answer 344

Regular blood transfusions-> iron overload Bone marrow transplant-> potentially curative but risks Iron chelation for iron overload(desferrioxamine, deferiprone)

Question 345

Describe the symptoms of beta thalassaemia minor

Answer 345

Usually mild asymptomatic anaemia

Question 346

Describe the epidemiology of sickle cell disease

Answer 346

Mc in people of Afrian descent-portection against malaria

Question 347

Describe the pathophysiology of sickle cell disease

Answer 347

HbAS instead of normal HbAA Abnormal beta globin chain polymerises when deoxygenated-> erythrocyte forms a sickle shape. Makes them susceptible to aggregation and haemolysis-> obstructed blood flow-> vaso-occlusive crisis-> damage to major organs and susceptibility to infections

Question 348

Describe the aetiology of sickle cell

Answer 348

Autosomal recessive inheritance Homozygous: mc and most severe: HbSS Can have one normal and one abnormal Can inherit one copy of HbS and other gene for normal HbA-> sickle cell trait

Question 349

Describe the signs and symptoms of sickle cell

Answer 349

Vaso-occlusive crisis: severe pain due to tissue ischaemia Dactylitis common presentation in infants <6 months Anaemia: increased haemolysis of sickle cellsJaundice-> consequence of haemolysis Acute chest syndrome: lung infarction or infection

Question 350

Describe the management of an acute sickle cell crisis

Answer 350

Pain relief: IV opiates for vaso-occlusive crisis O2 supplementation as required IV fluids: improve blood flow Top-up transfusions: severe crisis/aplastic crisis Abx if sign of infection

Question 351

Descirbe the long-term management of sickle cell anaemia

Answer 351

Hydroxycarbamidee-reduce frequency of crises Regular transfusions, folic acid supplements, iron chelation therapy Prophylactic abx (oral penicillin) Immunisations: flu and pneumococcal Genetic counselling Stem cell transplants Regular transcranial doppler ultrasonography: children 2-16 years Crizanlizumab: monoclonal antibody: >16yrs

Question 352

Describe the signs and symptoms of fanconi anaemia

Answer 352

Cytopenias-> increased bruising/bleeding/infections Symptomatic anaemia-> impaired oxygen-carrying capacity, aplastic anaemia Physical abnormalities: short stature, VACTERL-H malformations Cafe-au lait spots Increased risk of acute myeloid leukemia

Question 353

Describe the signs and symptoms of haemophilia

Answer 353

Usually early in life with spontaenous deep+severe bleeding into soft tissues, joints and muscles-previously joint damage resulting in deforming arthropathy(haemoarthroses and hematomas) Excessive bleeding post surgery/trauma Cerebral haemorrhage-> not as common anymore

Question 354

Describe the management of haemophilia

Answer 354

Desmopressin if minor Recombinant factor 8/9 if major bleed If severe: regular prophylactic recombinant clotting factor tx, physio and patient education-> prevention of joint arthropathy Gene therapy Vaccination for Hep B, dental advice etc Antifibrinolytics: TXA for but avoid in muscle haematomas/haemarthrosis

Question 355

Describe the pathophysiology of ITP?

Answer 355

Spleen produces antibodies directed against the glycoprotein 2b/3a or Ib-5-9 complex

Question 356

Describe the aetiology of ITP

Answer 356

Often triggered by a viral infection or immunisation Can be secondary due to: AI conditions(E.g SLE) Infections(H.pylori, CMV) Medications Lymphoproliferative disorders

Question 357

Describe the signs and sx of ITP

Answer 357

Bruising Petechial/purpuric rash Bleeding(lc)-epistaxis or gingival bleeding Unusually heavy menstrual flow in women/blood in urine/stools

Question 358

Describe the management of ITP

Answer 358

Usually self-resolving(80% within 6 mths)-conservative watch and wait Avoid team sports etc TXA may be used especially if menorrhagia Persistent/very low platelet count: Oral /IV corticosteroids IVIG Platelet transfusions but ONLY in emergency as a temporary measure

Question 359

Describe the prognosis of ITP in children

Answer 359

Generally self-resolving1/5: chronic If not resolved in 6 months: consider differentials including bone marrow aspirate

Question 360

Describe the aetiology of TTP

Answer 360

Hereditary: congenital mutatin of ADAMST13 AI: AI inhibition of ADAMST13

Question 361

Describe the clinial features of TTP

Answer 361

Pentad of: Fever Microangiopathic haemolytic anaemia Thrombocytopenic purpura CNS involvement: headache, confusion, seizures AKI Rare, typically adult females

Question 362

Describe the management of TTP

Answer 362

Fresh frozen plasma-contains vWF Plasma exchange: removes antibodies and toxins associated with pathogenesis of disease High dose steroids, low dose aspirin and rituximab

Question 363

Describe the epidemiology of testicular torsion

Answer 363

Mc in neonates and males between 13-16 years

Question 364

Describe the signs and symptoms of testicular torsion

Answer 364

Sudden onset, severe pain in one testicle Pain can be referred to the lower abdomen N+V Unilateral loss of cremaster reflex Negative Prehn's sign: persistent pain despite elevation of testicle Swollen tender testis retracted upwards May be hx of previous similar pain episodes whcih self-resolved

Question 365

Describe the management of testicular torsion

Answer 365

Urgent surgical exploration Bilateral orchidopexy-fixation of both testicles to prevent future torsion

Question 366

Describe the prognosis of testicular torsion

Answer 366

Worse in neonates-> testis rarely viable

Question 367

Describe the aetiology of testicular torsion in neonates?

Answer 367

Torsion is extravaginal-> spermatic cord and tunica vaginalis twist together in or just below inguingal canal

Question 368

Describe the management of testicular torsion in neonates

Answer 368

Torted testis is removed and contralateral testis is fixed in place

Question 369

Descirbe the epidemiology of precocious puberty

Answer 369

Mc in females than males Average onset of puberty has been decreasing over the past few decades-thought to be due to obesity

Question 370

Describe the pathophysiology of gonadotrophin dependent precocious puberty

Answer 370

'central/true' Due to premature activation of hypothalamic-pituitary-gonadal axis FSH and LH raised

Question 371

Descirbe the pathophysiology of gonadotrophin independent precocious puberty

Answer 371

'pseudo/false' Due to excess sex hormones FSH and LH low

Question 372

Describe the management of precocious puberty

Answer 372

GnRH analogues to suspend progression of puberty Surgery to resect tumours Glucocorticoids for CAH Depends on underlying cause

Question 373

Describe the inheriitance of Kallmann's syndrome

Answer 373

Usually X-linked recessive

Question 374

Describe the pathophysiology of Kallmann's syndrome

Answer 374

Failure of GnRH -secreting neurons to migrate to the hypothalamus

Question 375

Describe the management of Kallmann's syndrome

Answer 375

Testosterone supplementation Gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Question 376

Describe the epidemiology of congenital adrenal hyperplasia

Answer 376

Boy-more severe 75%: salt-losing 25%: non-salt losing

Question 377

Describe the pathophysiology of congenital adrenal hyperplasia

Answer 377

Impaired adrenal steroid biosynthesis Deficiency in cortisol production-> compensatory overproduction of ACTH by anterior pituitary Elevated ACTH-> increased production of adrenal androgens-> virilization of female infants and affect genital development

Question 378

Describe the aetiology of congenital adrenal hyperplasia

Answer 378

21 hydroxylase deficiency-mc-90% ->cortisol deficiency and excess androgen production 11-beta-hydroxylase17-hydroxylae deficiency: very rare

Question 379

Describe the signs and symptoms of congenital adrenal hyperplasia

Answer 379

Ambiguous genitalia(exposure to excessive androgen exposure in utero)-male infants appear normal so delays diagnosis Salt wasting crisis Precocious puberty Virilisation Infertility Heigth and growth abnormalities-grow fast initially but end up short

Question 380

Describe the sx of a salt-wasting crisis

Answer 380

Dehydration and vomiting Hyponatraemia Hyperkalaemia Circulatory shock and metabolic acidosis Life-threatening

Question 381

Describe the management of congenital adrenal hyperplasia

Answer 381

Glucocorticoid(hydrocortisone) and mineralocorcticoid(fludrocortisone) replacement Patient education: if unwell: increase hydrocortisone and may need IV fluids Surgical intervention: virilised females-correct external genital abnormalities

Question 382

Describe the management of obesity in children

Answer 382

Encourage healthy lifestyle >12yrs with severe physical/psychological comorbidities: drug treatment such as orlistat under MDT

Question 383

Describe the epidemiology of congenital hypothyroidism

Answer 383

F>M

Question 384

Describe the aetiology of congenital hypothyroidism

Answer 384

Primary congenital hypothyroidism Thyroid dysgenesis-mc cause Dyshormonogenesis Secondary or central congenital hypothyroidism Defects in hypothalamus or pituitary gland leading to low TSH secretion May be secondary to maternal carbimazole use or maternal antibodies

Question 385

Describe the clinical features of congenital hypothyroidism

Answer 385

Prolonged neonatal jaundice Delayed mental and physical milestones Short stature Puffy face, macroglossia Hypotonia Myxoedema Bradycardia If not dx early: altered neurodevelopment and cognitive disability

Question 386

Describe the management of congenital hypothyroidism

Answer 386

Immediate thyroid hromone replacement therapy with levothyroxine Regular monitoring of TSH and T4 for dose adjustments according to growth Long term follow up to monitor growth and development and to ensure treatment adherence

Question 387

Describe the epidemiology of pica

Answer 387

Mc in young children<5yrs and pregnancy Higher prevalence in low and middle income countries Common in individuals with developmental disabilities: ASD etc and psych disorders(OCD, schizophrenia)

Question 388

Describe the aetiology of pica

Answer 388

Nutritional deficiencies: iron and zinc Developmental and behavioral Psychiatric disorders: OCD, schizophrenia, ASD,, intellectual disorders

Question 389

Describe the symptoms of pica

Answer 389

Persistent craving and ingestion of non-food for at least a month Geophagia: dirt/clay Cornstarch Ice Paper Chalk Soap Hair

Question 390

Describe the management of pica

Answer 390

Iron/zinc supplements Dietary counselling Behavioural therapy including CBT SSRIs: underlying OCD or severe psychiatric disorders Environmental modification: remove objects in environment, supervision and restricted access to pica substances

Question 391

Describe the epidemiology of eczema

Answer 391

Very common Childhood onset common Prevalence decreases with age Urbanisation and industrialisation associated with higher prevalence

Question 392

Describe the pathophysiology of eczema

Answer 392

Vast lymphcoytic infiltration into dermis Often IgE-mediated allergic response to environmental allergens

Question 393

Describe the general features of eczema

Answer 393

Itchy, erythematous rash Repeated scratching can exacerbate affecteed areas In infants: face and trunk Younger children: extensor surfaces Older children: more typical-flexor surfaces and creases of face and neck

Question 394

Describe the management of eczema

Answer 394

Conservative: avoid triggers Simple emollients: use lots Topical steroids(emollient first then steroid 30 minutes later) Wet wrapping Light therapy Systemic: oral steroids, oral ciclosporin, DMARDS like methotrexate, biologics

Question 395

Describe the symptoms of eczema herpeticum

Answer 395

Vesicles and punched out erosions where the vesicles have deroofed will appear May affect large areas of skin including sites that are not currently eczematous May be multi--organ involvement

Question 396

Describe the cllinical features of Stevens Johnson syndrome

Answer 396

Within a week of medication intake, initially resembling a URTI with cough, cold, fever and sore throat Rash is maculopapular with characteristic target lesions-> may develop into vesicles or bullae) Nikolsky sign positive: blisters and erosions appear when skin is rubbed gently Mucosal involvement<10% of body surface-TEN: >30% if skin

Question 397

Describe the management of Steven-Johnson syndrome

Answer 397

Hospital admission Supportive care-> fluid and electrolyte management, pain control, treat secondary infections

Question 398

Describe the prognosis of Steven-Johnson syndrome

Answer 398

10% mortality rate-usually due to dehydration, infection or DIC TEN: 30% mortality rate

Question 399

Describe the aetiology of allergic rhinitis

Answer 399

IgE mediated response to allergens within the environment Seasonal: hayfever-pollens Perennial: throughout the year Occupational: exposure to specific allergens

Question 400

Describe the signs and sx of allergic rhinitis

Answer 400

Nasal pruritus Sneezing Clear nasal discharge Post-nasal drip Nasal pruritus Eye redness Eye puffiness Watery eye discharge

Question 401

Describe the management of allergic rhinitis

Answer 401

Avoid triggers Nasal irrigation with saline Oral/intranasal antihistamines Intranasal steroids Oral steroids Short course or topical nasal decongestant-not for prolonged periods ENT referral

Question 402

Describe the features of erythema toxicum

Answer 402

Benign rash in newborns Erythematous macules, papules and pustule Waxes and wanes over several days-usually no more than one day

Question 403

Describe the rash assocaited with scepticaemia?

Answer 403

Non-blanching purpuric rash Lethargy, headache, fevers, vomiting

Question 404

Describe the rash assocaited with slapped cheek syndrome

Answer 404

Rash on both cheeks Fever, URTI sx

Question 405

Describe the rash associated with hand foot and mouth disease

Answer 405

Blisters on hands and feet Grey ulcerations in buccal cavity, fever, lethargy

Question 406

Describe the rash associated with scarlet fever

Answer 406

Coarse red rash on cheeks Sore throat, headache, fever, bright red tongue Sandpaper texture rash

Question 407

Describe the rash associated with measles?

Answer 407

Erythematous, blanching maculoppapular rash Fever, cough, runny nose, conjuncitivitis, Koplik spots

Question 408

Describe the rash associated with urticaria

Answer 408

Raised, itchy red rashes Usually not accompanied by fever

Question 409

Describe the rash associated with chickenpox

Answer 409

Maculopapular vesicular rash that crusts over and forms blisters

Question 410

Describe the rash associated with roseola

Answer 410

Lace-like rash across whole body High fever

Question 411

Describe the rash associated with rubella

Answer 411

Starts on head and spreads to trunk Post-auricular lymphadenopathy

Question 412

Describe the epidemiology of urticaria

Answer 412

Women>men Peak incidence: 20-40yrs

Question 413

Describe the pathophysiology of urticaria

Answer 413

Release of histamine and other mediators form mast cells and basophils-> increased vascular permeability and formation of wheels Both immune-mediated and non-immune mechanisms contribute to development of urticaria

Question 414

Describe the signs and sx of urticaria

Answer 414

Pruritus Erythematous wheals with well defined borders Wheals that vary in shape and size Rapid onset and resolution Occasionally angiodema-> can involve lips, eyelids or extremities

Question 415

Describe the management of urticaria

Answer 415

ID and remove triggers Pharmacological:Non sedating antihistamine: cetirizine, loratadine Other antihistamines or LRTA Short course oral corticosteroids Symptomatic management: antipruritic creams like calamine lotion

Question 416

Describe the features of stork marks

Answer 416

Red/pink patches, often on eyelids/head/neck Very common Easier to see when baby cries Usually fade by age 2 on forehead/eyelids, longer if back of head or neck

Question 417

Describe the features of haemangiomas

Answer 417

Blood vessels that form from raised lump on skin Appear soon after birth, bigger in first 6-12 mths, then shrink and disappear by age 7 More common in girls, premature babies and multiple births May need tx if affect vision, breathing or feeding

Question 418

Describe the features of port wine stains

Answer 418

Red, purple or dark marks usually on face or neck Present from birth Usually on 1 sideof body Sometimes can become lumpier if not treated Can be made lighter using laser tx Sign of Sturg-Weber syndrome/Klippel-trenaunay syndrome but this is rare

Question 419

Describe the features of cafe-au-lait spots

Answer 419

Light/brown pathces anywhere on the body Common, lots of children have 1/2 Darker on black/brown skin Sign of NF1 if >=6 spots

Question 420

Describe the features of blue-grey spots

Answer 420

Loook like bruises There from birth Mc on babies with black/brown skin No tx, usually go away by age 4 Should be recorded on medical records-avoid thinking its abuse

Question 421

Describe the epidemiology of anaphylaxis

Answer 421

Relatively uncommon Higher risk in patients with asthma/atopy Incidence rising especially in Western countries

Question 422

Describe the aetiology of anaphylaxis

Answer 422

Type 1 hypersensitivity reaction. Allergen reacts with specific IgE antibodies causing a rapid release of histamine and other vasoactive substances-> increases capillary permeability causing oedea and shock

Question 423

Describe the clinical features of anaphylaxis

Answer 423

Sudden onset and rapid progression of sx Airway: hoarse voice, lip swelling, stridor indicative of upper airway obstruction and laryngeal oedema Breathing: wheezing, SOB, fatigue, SpO2<94% Circulation: tachycardia, hypotension/shock, angioedema, confusion Others: Generalised pruritusWidespread erythematous or urticarial rash GI: abdominal pain, diarrhoea, vomiting

Question 424

Describe the acute management of anaphylaxis

Answer 424

Immediate IM adrenaline Remove trigger Manage ariway and high flow oxygen IV fluids If no response, repeat adrenaline

Question 425

Describe the long term management of anaphylaxis

Answer 425

Counselling on use of adrenaline auto-injectors Supply of 2 auto-injectors Written advice Referral to local allergy service for follow up

Question 426

 What is rheumatic fever?

Answer 426

AI systemic complication of lancefield Group A beta-haemolytic strep infection (scaarlet fever) that occurs 2-4 weeks post infection

Question 427

Describe the epidemiology of rheumatic fever

Answer 427

Mc in developing countries

Question 428

Describe the pathophysiology of rheumatic fever

Answer 428

2-4 weeks post beta haemolytic strep infection(scarlet fever) autoantibodies generated that target the strep and cross-react with the endocardium leading to valvular disease

Question 429

Describe the split of different vavle diseases occuringin rheumatic heart disease

Answer 429

Mitral valve disease: 70% MC Aortic valve: 40% Tricuspid: 10% Pulmonary valves: 2%

Question 430

Describe the minor criteria for rheumatic fever

Answer 430

Raised ESR/CRP Pyrexia Athralgia(if arthritis not a major criteria) Prolonged PR interval

Question 431

Describe the management of rheumatic fever

Answer 431

Oral/IV bbenzylpenicillin Analgesia for arhritic sx: NSAIDs, aspirin(not in young children) Treatment of heart failure: diuretics, ACE inhibitor, surgery for valve defects if severe Sydenham's chorea: self-limiting, acutely haloperidol/diazepam

Question 432

Describe the prognosis of rheumatic fever

Answer 432

No cure for rheumatic heart diseaseIf severe valvular disease: requires surgery-40% with severe rheumatic heart disease

Question 433

Describe the aetiology of paediatric heart disease

Answer 433

Usually congenital heart defects Acquired: myocarditis, arrhythmias, htn Different underlying mechanisms compared to adults

Question 434

Describe the signs and symptoms of paediatric heart failure

Answer 434

Infants: Difficulty feeding Faltering growth Young children: Abdo pain and vomiting especially on exertion Poor appetite Adolescents: Exercise intolerance Fatigue All ages: cyanosis and hepatomegaly

Question 435

Describe the management of paediatric heart failure

Answer 435

Conservative: fluid restriction and dietitian guided feeding plans Medical: diuretics with inotropic support: ACE inhibitors mc used Surgical: ventricular assist device to improve circulation Correction of anatomical defect if present Heart transplant in end stage cases

Question 436

Describe the prognosis of paediatric heart failure

Answer 436

Progressive Leading cause of mortality in children with heart disease

Question 437

Describe the pathophysiology of infective endocarditis

Answer 437

Damage to endocardium-> heart valve forms local blood clot-> platelets and fibrin deposits allow bacterium to stick to endocardium-> formation of vegetation Valves have no dedicated blood supply-> body can't launch immune response to vegitations

Question 438

Describe the major criteria for infective endocarditis

Answer 438

Blood culture positive for IE (2 times separate positive blood cultures for 2 sites showing typical microorganisms) Evidence of endocardial involvement: echo showing vegetation, abscess etc

Question 439

Describe the minor criteria for infective endocarditis

Answer 439

Fever: >38 degrees Immunological: Roth spots, splinter haemorrhages, Osler's nodes Vascular: septic emboli, Janeway lesions Echo minor criteria Predisposing features: knwon valve disease, IVDU, prosthetic valve disease Microbiological evidence that doesn't meet major criteria

Question 440

Describe the management of infective endocarditis

Answer 440

6 week courseof IV abx-usually midline insertion When organism and sensitivities not known: amoxicillin (vancomycin)

Question 441

Describe the prognosis of infective endocarditis

Answer 441

Without tx, can rapidly lead to heart failure and death

Question 442

Describe the aetiology of congenital heart block

Answer 442

Maternal systemic AI diseases: SLE and Sjogren: anti-Ro and/or anti La Structural heart defects Some cases idiopathic-can run in families

Question 443

Describe the signs and symptoms of congenital heart block

Answer 443

Asx Neonates: bradycardia and/or circulatory shock Older children: pre-syncope, syncope, usually in first few years of life

Question 444

Describe the management of congenital heart block

Answer 444

Asx: close monitoring Sx: neonatal ICU admission->isoprenalineImplant pacemaker

Question 445

Describe the prognosis of congenital heart block

Answer 445

Up to 20% chance of intrauterine fetal death Good prognosis after pacemaker insertion 20% ris of recurrence in future pregnancies->pre-conception counselling

Question 446

Describe the signs and sx of IBS

Answer 446

>=6 monthsAbdo painBloatingChange in bowel habit Sx made worse by eating Passage of mucus Lethargy, nausea, backache, bladder sx also common

Question 447

Describe the management of IBS

Answer 447

Dietary and lifestyle: stress maanagement, low FODMAP diet Antispasmodics: mebeverine, laxatives, anti-diarrhoeal TCA'sRefractory: psychotherapy including CBT

Question 448

Describe the epidemiology of gastroenteritis

Answer 448

Common worldwise and affects all ages Leadig cause of death in children under 5 worldwide

Question 449

Describe the bacterial causes of gastroenteritis

Answer 449

S.aureus-cooked meats and cream products Bacillus cereus-reheated rice Clostridium perfringens Campylobacter E.coli Salmonella Shigella

Question 450

Describe the presentation of a patient with gastroenteritis

Answer 450

Diarrhoea and vomitng Blood in stool-bacterial pathogen Systemic: malaise and fever Signs of dehydration/shock if severe

Question 451

Describe the management of gastroenteritis

Answer 451

Notifiable if outbreaks Supportive: fluid replacement orally and using sachets Clinical dehydration/shock: IV fluids or NG rehydration Severe and immunocompromised: abx Ondansetron in severe cases Gradual reintroduction of food-avoid fruit juice and carbonated drinks

Question 452

Describe the prognosis of gastroenteritis

Answer 452

Vomiting 1-2 days, diarrhoea 5-7 days Most children: complete resolution within 2 weeks Secondary lactose intolerance: diarrhoea for up to 6 weeks

Question 453

Describe the epidemiology of Crohn's disease

Answer 453

Mc in northern climates and develoepd countries Bimodal age of onset: 15--40yrs, then 60-80yrs Mc in caucasians

Question 454

Describe the clinical features of Crohn's disease

Answer 454

GI: crampy abdo pain and non-bloody diarrhoeaa Systemic: weight los and fever Aphthous ulcers in mouth Cachectic and pale(anaemia), clubbing Erythema nodosum Pyoderma gangrenosum Anterior uveitis Axial spondyloarthropathy Gallstones AA amyloidosis

Question 455

Describe the management of Crohn's disease

Answer 455

Smoking cessation In flare: monotherapy with glucocorticoids(oral/IV prednisolone or hydrocortisone), biologics Remission: azathioprine, mercaptopurine, methotrexate, biologics(infliximab or adalimumab) Surgical: treat complications

Question 456

Describe the management of peri-anal fistulae in Crohn's disease

Answer 456

Drainage seton Fistulotomy

Question 457

Describe the management of peri-anal abscess in Crohn's disease

Answer 457

IV abx: ceftriaxone+metronidazole Exam under anaesthetic and incision and drainage

Question 458

Describe the clinical features of Ulcerative colitis

Answer 458

Diarrhoea containing blood and/or mucus Tenesmus/urgency, cramps Systemic: wt loss, fever, malaise, anprexia Exam: pallor, clubbing Derm: erythema nodosum, pyoderma gangrenosum Ocular: anterior uveitis MSk: sacroilitis Hepatobiliary: PSCAA amyloidosis

Question 459

Describe the management of mild-moderate Ulcerative colitis

Answer 459

Topical amiosalicylate Oral if no improvement in 4 weeks Consdiier adding oral prednisolone Etrasimod Oral tacrolimus

Question 460

Describe the management of acute severe Ulcerative colitis

Answer 460

IV corticosteroids Add IV ciclosporin of no improvements in 72 hours Trial etrasimod(velsipity) Emergency surgery

Question 461

Describe the epidemiology of coeliac disease

Answer 461

F>M Bimodal: infancy or 50-60yrs Increased incidence in Irish

Question 462

Describe the pathophysiology of coeliac disease

Answer 462

Sensitivity to gluten and realted prolamines results in villous atrophy of the lining of the small intestine and results in malabsorption

Question 463

Describe the symptoms of coeliac disease in children

Answer 463

Abdo pain Distention N+V Diarrhoea Steatorrhoea Fatigue Weight loss

Question 464

Describe the management of coeliac disease

Answer 464

Lifelong gluten free diet Patient education Supplements for deficiencies: iron/vitamins etc Regular monitoring to ensure diet adherence and screen for complications

Question 465

Describe the presentation of a child with malnutrition

Answer 465

Poor growth Plateaued weight gain or weight loss Difficulties concentrating Intellectual disability Specific vitamin deficiencies

Question 466

Describe the management of malnutrition in the uk

Answer 466

Vitamin supplements Increase caloric intake with high-energy food and drinks(smoothies, milkshakes, cheese) Specific supplements: iron

Question 467

Describe some signs that might point to non-organic FTT

Answer 467

Nutritional indicators Social indicators-signs of neglect(poor hygiene, unattetended medical needs) Poor parent-child interactions, parental mh issues

Question 468

Describe the management of FTT

Answer 468

Stabilisation if severe dehydration/electrolyte imbalances Nutritional supprot-dietitian Mineral and vitamin supplementation Address underlying cause Follow up to plot growth chart

Question 469

Describe the aetiology of Hirschsprung's disease

Answer 469

Aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses

Question 470

Describe the pathophysiology of Hirschsprung's disease

Answer 470

Parasympathetic neuroblasts fail to migrate form the neural crest to the distal colon-> developmental failure of parasympathetic Auerbach and Meissner plexuses->uncoordinated peristalsis-> funcitonal obstruciton

Question 471

Describe the epidemiology of Hirschsprung's disease

Answer 471

Rare 3 x more common in males Down's syndrome

Question 472

Describe the management of Hirschsprung's disease

Answer 472

Rectal washouts/bowel irrigation Definitive: surgery to affected segment of colon

Question 473

Describe the pathophysiology of Meckel's diverticulum

Answer 473

Remnant of vitellointestinal duct which usually disappears around 6th week gestation Contains ectopic ileal , gastric or pancreatic mucose

Question 474

Describe the presentation of a patient with Meckel's diverticulum

Answer 474

Usually asx Painless rectal bleeding-ulceration of adjacent tissue Intestinal obstruction Intussusception Abdominal pain mimicking appendicitis

Question 475

Describe the management of Meckel's diverticulum

Answer 475

Laparoscopic surgical resection of diverticulum l if narrow neck/symptomatic using wedge excision or small bowel resection and anastamosis

Question 476

Describe the management of toddler's diarrhoea?

Answer 476

Reassurance will go by 6yrs 4F's:Fat-higher fat diets improve: whole milk, cheese, ice cream Fruit juice: limit Fluid: consider limiting to meal and snack times if drinking too much Fibre: not high fibre or low fibre

Question 477

Describe the symptoms of infantile colic

Answer 477

Bouts of excessive crying and pulling up of legs Often worse in evening

Question 478

Describe the management of infantile colic

Answer 478

Reassurance and supprot for parents Advice about feeding positions and environments etc: continue feeding normally If concerns about health then further evaluation: poor weight gain, vomiting, fever etc

Question 479

Describe the epidemiology of cow's milk protein intolerance

Answer 479

First 3 months Formula fed infants

Question 480

Describe the presentation of infants with cow's milk protein intolerance

Answer 480

Persistent diarrhoea, vomiting, FTT, abdo pain in first few months of life Usually present after introduction of cow's milk to the diet Abdo pain: may draw up legs if younger Diarrhoea: may be bloody/mucus Eczema/urticaria Immediate IgE mediated: urticaria, angioedema, vomiting wheezing within 2 hours of presentation

Question 481

Describe the management of cow's milk protein intolerance in a formula fed infant

Answer 481

Extensive hydrolysed formula milk replacement Amino acid-based formula as second line

Question 482

Describe the management of cow's milk protein intolerance in a breast fed infant

Answer 482

Continue breasteeding Eliminate cow's milk protein from maternal diet Use extensively hydrolysed formula milk when done breastfeeding until 12 months of age

Question 483

Describe the epidemiology of choledochal cyst

Answer 483

Rare More common in Asian children 3 x as common in girls

Question 484

Describe the signs and symptoms of choledochal cyst

Answer 484

Asx-found before birth on antenatal scan Triad of abdo pain, jaundice and abdominal mass Jaundice-blocking of bile drainage Abdo pain Cholangitis Peritonitis if cyst bursts/leaks Pancreatitis

Question 485

Describe the aetiology of neonatal hepatitis

Answer 485

Viruses: rubella, CMV, hepatitis A/B/C Idiopathic-mc Genetic: A1AT deficiency

Question 486

Describe the presentation of neonatal hepatitis

Answer 486

Jaundice Pruritus Rashes Dark urine Hepatomegaly FTT

Question 487

Describe the management of neonatal hepatitis

Answer 487

Medical: Ursodeoxycholic acid-increase bile formation Surgery: cirrhotic liver disease/liver transplant if severe Optimise nutrition and vitamin supplementation

Question 488

Describe the features of a reducible hernia

Answer 488

Bowel can be reduced back into abdo cavity Painless and often asymptomatic

Question 489

Describe the features of a strangulated hernia

Answer 489

Serious acute medical condition where a hernia compromises blood supply to intestines or abdominal tissues-> ischaemia and necrosis of affected bowel tissue Risk of sepsis and bowel perforation

Question 490

Describe the features of an incarcerated hernia

Answer 490

Blood supply not necessarily compromised Presents with abdominal pain and irreducible mass

Question 491

Describe the features of umbilical hernias

Answer 491

Often due to failure of umbilical ring to close after umbilical cord falls off Very common in children Often close without intervention

Question 492

Describe the features of epigastric hernias

Answer 492

Herniation between sternum and umbilicus Don't close spontaneously Not common in children

Question 493

Describe the features of inguinal hernias

Answer 493

Protrusion through inguinal canal, entering either the deep inguinal ring(direct) or through weakness in abdominal wall(indirect hernia) Indirect due to paten processus vaginalis-common in infants Direct rare in infants

Question 494

Describe the epidemiology of hernias

Answer 494

Common in children M>F Strangluated more common in adults due to age-related weakening of abdominal wall

Question 495

Describe the presentaiton of a patient with a strangulated hernia

Answer 495

Severe abdominal pain Vomiting Hx of intermittent pain, especially when hernia still reducible Signs of bowel obstructions: abdo distention, constipation, inability to pass stool/gas

Question 496

Describe the management of a strangulated hernia

Answer 496

Surgical: Release herniated bowel to restore blood flow Remove necrotic tissue to prevent sepsis Reinforce weakened area of abdo wall with mesh etc