Paeds - Symptoms and Signs

Question 1

Symptoms and signs required for the diagnosis of bronchiolitis

Answer 1

o Child has a coryzal prodrome lasting 1-3 days followed by
o Persistent dry cough and
o Tachypnoea and/or chest recession and
o Wheeze and/or fine end inspiratory crackles on auscultation

• Other
o Nasal flaring, grunting
o Tachycardia
o Cyanosis or pallor

o Hyperinflation of the chest
 Prominent sternum
 Liver displaced downwards

o Fever – 30%, <39

o Poor feeding– after 3-5 days
 Indicates increasing dyspnoea
 Indicator for admission

Question 2

Bronchiolitis symptoms - when do they resolve?

Answer 2

• Self-limiting illness
• Peak between 3-5 days
• Lasts 3-7 days
• Cough resolves in 90% of infants within 3 weeks

Question 3

Bronchiolitis - signs of impending respiratory failure

Answer 3

• Impending respiratory failure
o Signs of exhaustion – listlessness, decreased respiratory effort
o Recurrent apnoea
o Failure to maintain adequate O2 sats. despite O2 supplementation

Question 4

Croup signs and symptoms

Answer 4

• Preceding 12-48h hx of non-specific cough, rhinorrhoea, fever

• Sudden onset of a seal-like barking cough
• Stridor (predominantly inspiratory)
• Hoarse voice
• Respiratory distress (due to upper-airway obstruction)
• Maybe fever (rarely >39 degrees)

Symptoms worse at night

Question 5

Croup

Mild
Moderate
Severe

signs

Answer 5

Mild
• Seal-like barking cough
• Pink

Moderate
•	Seal-like barking cough
•	Stridor
•	Sternal recession at rest
•	Pink

Severe
•	Seal-like barking cough but may be quiet
•	Stridor
•	Sternal/intercostal recession at rest 
•	Agitation or lethargy 
•	May be cyanosed

Question 6

Croup

Signs of impending respiratory failure

Answer 6

• Increasing upper airway obstruction
• Severe respiratory distress -RR >70
• Tachycardia
• Sternal/intercostal recession
• Asynchronous chest wall + abdominal movement (subcostal recession)
• Fatigue
• Pallor
• Cyanosis without oxygen
• Decreased LOC
• As the child tires – onset of respiratory failure, chest wall recession may diminish (this may appear to the as if the child is improving but is in fact deteriorating)

Question 7

Describe the 3 phases of symptoms for whooping cough

Answer 7

o Catarrhal phase
 1-2 weeks
 Sx of URTIs – nasal discharge, conjunctivitis, malaise, sore throat, low-grade fever, dry, unproductive cough
 Pertussis is rarely diagnosed during this stage unless there has been contact with a person who is known to be infected

o	Paroxysmal phase
	After catarrhal phase, 1-6 weeks
	Coughing fits –
•	Cough, cough, cough without drawing breath until the lungs are virtually emptied
•	Child is left exhausted  

 Whooping
• Short expiratory burst followed by an inspiratory gasp causing the whoop sound
• Whoop is less common in older children, adults, children <3months (may present with apnoea alone)

 Post-tussive vomiting

 If severe
• Children  cyanosis
• Adults  sweating attacks, facial flushing, cough syncope
 Person may be relatively well between paroxysms
 More common at night
 May be triggered by external stimuli (cold/noise)
 There may be more than 30 paroxysms in 24 hours
 Thick mucous plugs or watery secretions
 No chest signs

o Convalescent phase
 After paroxysmal phase, up to 3 months
 Gradual improvement in the frequency and severity of symptoms
 Paroxysms can recur with subsequent respiratory infections many months after the initial infection

Question 8

Describe atypical symptoms in young infants or older children/adults with whooping cough

Answer 8

• Young infants
o Whoop may be absent
o Coughing spasms may be followed by periods of apnoea/cyanosis
o Rarely, very young children may die suddenly with no obvious symptoms of pertussis

• Whoop is less common in children <3months (may present with apnoea alone)older children, adults

Question 9

Pneumonia in children symptoms

Answer 9

• Most often LRTI is accompanied by fever + may be preceded by a typical viral URTI

• Fever
• raised HR
• raised RR
• cough
• sputum (yellow/green/rusty in Strep. Pneumoniae),
• vomiting post-coughing
• Diarrrhoea
• Grunting
• Poor feeding
• Irritability + lethargy
• Cyanosis (severe infection)
• Cough
• Preceding of URTI (very common)
• Recessions

Toddlers/preschool children
• Post-tussive vomiting
• Pain (chest and abdominal)
• Lower lobe pneumonias may cause abdominal pain

Question 10

Pneumonia in children examination findings

Answer 10

• Pulse oximetry
o In pneumonia may be <95%

• Fever >38.5

•	Observation 	
o	RR – tachypnoea
	0-5m - >60
	6-12m - >50
	>12m - >40 
o	Feeding - ?decompensation during feeding
o	Chest movements 
o	Respiratory distress
	Cyanosis
	Grunting
	Nasal flaring 
	raised RR
	Recessions – intercostal/suprasternal/subcostal recession
	Abdominal seesaw breathing
•	Complete (or almost) complete airway obstruction
•	As the patient attempts to breathe, the diaphragm descends, causing the abdomen to lift and the chest to sink. The reverse happens as the diaphragm relaxes.
	Tripod positioning
	O2 sats <95%

o Associated symptoms (e.g. rashes, pharyngitis)

•	Auscultation
o	Coarse Crackles + fever  pneumonia 
o	Consolidation 
	Decreased breath sounds
	Increased tactile/vocal fremitus
o	Bronchial breathing 

• Percussion
o Dullness  Consolidation
 Later + less common finding than crackles

• Consider bacterial pneumonia if
o Persistent or repetitive fever >38.5 + chest recession + increased RR

Very uncommon:
o Wheeze is not seen very often in LRTI – common with more diffuse infections e.g. M. pneumoniae and bronchiolitis
o Stridor or croup suggests URTI, epiglottitis or foreign body aspiration

Question 11

Mesenteric adenitis symptoms and signs

Answer 11

• Hx of URTI (most commonly viral)
• Symptoms often start following a sore throat or symptoms of cold
• Diffuse abdominal pain/tenderness
• Fever, feeling unewell
• N, D
• Hyperaemic pharynx or oropharynx (pharyngitis)
• Extramesenteric lymphadenopathy (usually cervical)

Question 12

Biliary atresia signs and symptoms

Answer 12

•	Jaundice 
•	Pale stools – white to a tan or light yellow
•	Dark urine
•	Bruising
o	Coagulopathy developing secondary to vitamin K deficiency related to chronic cholestasis 
•	Uncommon presentations 
o	Hepatomegaly 
o	Ascites

Question 13

Intestinal atresia symptoms + signs

Answer 13

• Persistent vomiting
o Bilious
o Within hours of birth
o Sometimes may take a couple of days to develop – lower lesions take longer to develop symptoms

Question 14

Cerebral palsy symptoms and signs in neonates

Answer 14

All signs in children with corrected age
• Neonates
o Early postnatal period – hypotonia

o Unsusual fidgety movements or other abnormalities of movements incl. asymmetry or paucity to movement

o Abnormalities of tone
 Hypotonia, spasticity, dystonia (fluctuating tone)

o Abnormal motor development
 Late head control, rolling, crawling

o Feeding difficulties
 Poor weight gain, coughing and choking while eating, long mealtimes
 May emerge before or be more apparent than motor symptoms in the early years

o Becomes progressively hypertonic at ages 16-18m

• <5 months
o Normally
 Small, controlled, fidgety, spontaneous general movements of the neck, trunk, limbs in all directions
 Continual movements except during focused attention or if the child is unsettled and crying
 Best seen in the reclined or supine position

o CP
 Absent or abnormal fidgety movements (exaggerated amplitude, speed or jerkiness)

• Delay in motor development
o Key diagnostic factor
o Should use corrected age for children born preterm
o Sit – 6m, crawl – 9m, walk – 12-18m, climb stairs – 3y
 Most common delayed motor milestones – not sitting by 8m, not walking by 18m
o Early asymmetry of hand function (hand preference) before 1y
o The majority of movement delays will be evident by the time a child reaches 30m

Question 15

Cerebral palsy symptoms + signs

Answer 15

• Spasticity
o Generally presents after 2 years of age
o Manifests when the child attempts activities

• All patients have motor impairment + muscle weakness
• Joint instability/dislocation – more common as severity of spasticity increases
• Persistent toe walking
• Pain – tight muscles, abnormal posture, stiff joints
• Sleep disorders
• Eating difficulties

• Delay in speech development
o Should use corrected age for children born preterm
o Talk in short sentences by 2y

• Delay in cognitive/intellectual development
o Observed in 40%

• Retention of primitive reflexes
o Reflexes + reactions that are poor prognostic factors for development of independent walking – asymmetric + symmetric tonic reflexes, retention of Moro (startle) reflex, retention of neck righting reflex, presence of lower-extremity extensor thrust response

• Lack of age-appropriate reflexes
o Poor prognostic factors for development of independent walking
o Lack of parachute reaction
o Lack of foot placement reaction

• Spasticity/clonus
o Typically develops after the 2nd year of life
o Manifests when the child attempts activities
o Confirmed by velocity dependent resistance to passive motion, abnormally  deep tendon reflexes, clonus
 Spasticity is an increase in resistance to sudden passive movement and is velocity dependent  The faster the passive movement the stronger the resistance
o May be accompanied by a “clasp-knife” phenomenon – resistance to passive motion abruptly decreases

• Contractures

Question 16

Spastic cerebral palsy symptoms and signs

Answer 16

• Spastic CP
o Selective voluntary motor control impairment
 Inability to perform isolated motion of joints without obligatory movement of non-agonist joints – assess using SCALE (selective control assessment of the lower extremity)

o Gait
 Toe walking/ knee hyperextension

• Excessive plantar flexion in patients with spastic hemiplegia
• Toe-walking in young child

• Knee hyperextension in the older child or adult
 Scissoring

• Due to hip adductor or medial hamstring spasticity
 Crouched gait

• Excessive dorsiflexion

Question 17

Dyskinetic cerebral palsy symptoms and signs

Answer 17

o Dystonia – involuntary, sustained contractions resulting in twisting + abnormal postures
o Athetosis – slower, constantly changing, writhing or contorting movements
o Chorea – rapid, involuntary, jerky, fragmented motions, decreased tone but fluctuating

Question 18

Ataxic cerebral palsy symptoms and signs

Answer 18

o Loss of muscular coordination with abnormal force + rhythm
o Impairment of accuracy – gait + truncal ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus
o Abnormal eye movements
o Hypotonia

Question 19

Signs that a child with cerebral palsy has problems with eating/drinking/swallowing

Answer 19

o Problems with eating, drinking, swallowing – To a specialist for treating dysphagia if
 Coughing, choking, gagging, altered breathing pattern, change in colour while eating or drinking
 Recurrent chest infection
 Mealtimes are stressful/distressing
 Prolonged meal duration

Question 20

Signs and symptoms of atopic eczema flares

Answer 20

o	increased dryness
o	Itching
o	Redness
o	Swelling
o	General irritability

Question 21

Signs and symptoms of atopic eczema with bacterial infection

Answer 21

o	Weeping
o	Pustules
o	Crusts (golden coloured)
o	Atopic eczema failing to respond to therapy
o	Rapidly worsening atopic eczema 
o	Fever
o	Malaise

Question 22

Signs and symptoms of eczema herpeticum

Answer 22

o Areas of rapidly worsening painful eczema
o Clustered blisters consistent with early-stage cold sores
o Punched out erosions (circular, depressed, ulcerated lesions) usually 1-3mm that are uniform in appearance (may coalesce to form larger areas of erosion with crusting)
o Possible fever, lethargy, distress

Question 23

DMD + BMD symptoms + signs

Answer 23

• Progressive proximal muscular dystrophy with characteristic pseudohypertrophy of calves
• All patients have symptoms by 3 years of age

• Imbalance of lower limb strength
o Hip + knee flexors + ankle plantar flexors stronger than hip + knee extensors + ankle dorsiflexors
o Patient tends to walk with increased LORDOSIS + on the toes to keep the centre of gravity behind the hips and in front of the knees to avoid jack-knifing

• Lower extremity musculotendinous contractures
o Increased lumbar lordosis
o Heel cord contractures

• Delayed motor milestones
o Mean age of beginning ambulation – 18 months
o Unaffected children already begin to ambulate by 18 months

• Ambulatory difficulty and falls
o Untreated patients rarely able to run or jump
o Waddling gait
o Initial complain of children – ambulation difficulty + falls

• Calf hypertrophy
o Due to ongoing regeneration of muscle fibres
o Characteristic of all muscle dystrophies

• Diminished muscle tone + deep tendon reflexes in all muscle groups
• Normal sensation

• Gower’s sign
o Patient needs to “climb up his body” to come to a stand from a seated position
o Using the hands when rising from the floor
o Because of the relatively weaker hip + knee extensors + ankle dorsiflexors
o Characteristic of children with DMD from ages 4-7

• Toe walking
o DMD – hypotonic, symmetrically affected
o However, the great majority of children who walk on their toes have static encephalopathies (not muscular dystrophies) and at least mild spasticity – asymmetrically affected

• Hypotonia
• Hyperactivity
• Urinary + bowel incontinence

• Mild to severe intellectual disability
o DMD – Speech delay or global developmental delay
o BMD – Learning difficulties, behavioural problems, ASD

• Failure to thrive, fatigue

• Respiratory problems
o Weakness of IC muscles  nocturnal hypoxia  daytime headaches, irritability, loss of appetite
o Loss of effective cough – infections, atelectasis

• Carriers
o  risk of cardiomyopathy
o Most asymptomatic
o 2-5% may have skeletal muscle symptoms – mild muscle weakness, aches or calf muscle enlargement or a disease as severe as in boys (due to X-inactivation)

Question 24

DMD vs BMD

Answer 24

DMD
• All patients have symptoms by 3 years of age
• DMD patients become wheelchair dependent between 7-12 years of age
• Lose the ability to walk by 12 years of age
• Require ventilatory support by 25 years of age

BDM
• Similar to those in DMD
• Patients usually able to walk throughout their teens and into early adulthood
• Muscle weakness may begin in teenage years or 20s, causing difficulty climbing stairs, fast walking + lifting objects
• Loss of independent ambulation in late 20s
• CHF, cardiac arrhythmias before complaining of muscle weakness (may be the first presenting feature if muscle weakness is mild) – fatigue, poor sleep, weight loss, vomiting

Question 25

West syndrome/infantile spasm syndrome signs + symptoms

Answer 25

• Typically presents in infancy * characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms * this lasts only 1-2 seconds but may be repeated up to 50 times • progressive mental handicap • Spasms o Initial contraction phase o Followed by a more sustained tonic phase o Usually symmetrical, bilateral, brief contractions of the axial (neck, trunks, limbs) muscle groups o Can be asymmetrical + only manifest as head nodding/drops or abnormal eye movements  Abnormal eye movements may be the only presenting symptom o Sudden flexion, extension or mixed flexion-extension of proximal and truncal muscles o Lasts 1-2 seconds  Longer than a myoclonic jerk (which lasts milliseconds)  Not as long as a tonic seizure (which lasts >2s) o Typically occur in clusters of 20-100 spasms at a time with visible distress o Isolated spasms can occur o Often seen on waking or falling asleep, occasionally associated with feeding • There may be an associated brief loss of consciousness • Neurodevelopmental delay or regression o Background of developmental delay – but occasionally development may be unaffected at presentation o Plateauing or regression of subsequent development o Important diagnostic feature – loss of previously acquired skills, notably affecting visual skills Other signs • Ash leaf macules o Visualised using Wood’s lamp examination – lesions fluoresce under UV light o Hypopigmented skin lesions – associated with tuberous sclerosis • Microcephaly o Can indicate an underlying cause e.g. brain malformations, perinatal injuries, neurometabolic disorders, intrauterine infections

Question 26

Gastroenteritis symptoms + signs

Answer 26

• Bowel habits o Sudden onset diarrhoea  Bloody diarhoea – Campylobacter, E.coli, Salmonellosis, Shigella, Yersinia, amaoeba  Watery – rotavirus, norovirus, salmonella, yersinia, cryptosporidiosis o Sudden change in stool consistency to loose or watery stools, usually at least 3 times in 24h o Blood or mucus in the stool o Faecal urgency o Hyperactive bowel sounds * N or sudden onset of vomiting * Fever or general malaise * Abdominal pain or cramps * Associated headache, myalgia, bloating, flatulence, weight loss, malabsorption

Question 27

Clinical dehydration

Answer 27

Appears unwell or deteriorating Altered responsiveness (e.g. irritable, lethargic) Sunken eyes Tachycardia Reduced skin turgor

Question 28

• Hypernatraemic dehydration signs and symptoms

Answer 28

``` • Hypernatraemic dehydration o Jittery movements o Hypertonia o Hyperreflexia o Convulsions drowsiness or coma ```

Question 29

Severe dehydration signs and symptoms

Answer 29

* Apathetic or lethargic state * Markedly decreased or absent UO * Greatly increased thirst * Very dry mucous membranes * Greatly elevated heart rate * Prolonged or minimal CRT * Decreased skin turgor * Very sunken eyes * Very sunken anterior fontanelle * Cold extremities * Hypotension * Coma

Question 30

DDH symptoms + signs in <3m

Answer 30

o Asymmetry  Asymmetrical gluteal or thigh skin folds  Limb length discrepancy (Galeazzi sign)  Limitation + asymmetry of hip abduction when the hip is flexed to 90 – most important sign of a dislocated or dysplastic hip

Question 31

DDH symptoms + signs in 3-6m

Answer 31

o >8w – unilateral limitation + asymmetry of hip abduction – most reliable sign of DDH o If the hip is dislocated it is in a fixed position o Galeazzi sign  Supine child, hips + knees flexed to 90, height of each knee is compared  Positive sign – one leg appears shorter than the other – usually due to dislocation of the hip  Unilateral femoral shortening  hip dislocation or rarer abnormalities of the femur o Other signs – asymmetry of gluteal thigh or labral skin folds, discrepancy in leg length, widened perineum on affected side, buttock flattening, standing or walking with external rotation of the affected leg

Question 32

DDH symptoms + signs in older children

Answer 32

o Limited abduction when fully flexed o Tip toe walk on the affected side o Painless limb • Abnormal positioning of the leg or delayed crawling/walking

Question 33

DDh barlow + ortalani test

Answer 33

• Barlow + Ortolani tests o Can detect an unstable hip o Do not detect an irreducible dislocated hip or a stable hip with abnormal anatomy (e.g. acetabular dysplasia) o Useful in neonates, become difficult by 2-3 months of age due to increased musculature o Benign hip clicks (due to soft tissues snapping over bony prominences during hip movement) should be distinguished from the clunks produced during the Ortolani manoeuvre as the dislocated femoral head is reduced and from the subluxation felt during the Barlow test • Positive Barlow test o The hip is flexed to 90° and adducted, the examiner's hand is placed on the knee o Posterior pressure is placed through the hip in an attempt to identify dislocatable hips. o Used in infants <6m • Positive Ortolani test o In Ortolani, the back of your hand should go flat against the bed as you abduct the thighs o The hip is flexed to 90° and abducted, with the examiner's fingers are placed laterally over the greater trochanter or hip joint o In Ortolani, the back of your hand should go flat against the bed as you abduct the thighs o The examiner then uses anterior pressure over the trochanter in an attempt to identify a dislocated hip that is relocatable o Used in infants <6m o If frank instability is appreciated during the Barlow/Ortolani test – refer to a paediatric orthopaedist

Question 34

Perthes disease symptoms and signs

Answer 34

• Presentation o Onset over weeks o No hx of trauma o Limitation of hip rotation + subacute limp o Referred pain to the groin, thigh, knee o Child is systemically well with no other joint involvement and no evidence of joint inflammation • Typically unilateral o Bilateral in 10% (sequential, not simultaneous) • Patients commonly have a characteristic phenotype o Short stature  Children shorter than their peers  They attain puberty and a normal final height by mid teen o Delayed bone age o Hyperactivity • Gait o Painless limp o Antalgic gait (due to pain) during acutely painful episodes o Trendelenburg gait is seen in the late phase • Limited range of motion at the hip joint o Flexion deformity in the acute setting o Impingement lesions lead to limited adduction in flexion, internal rotation and abduction in extension o O/E all movements of the hip are limited o Early phase  Limited abduction of the hip  Limited internal rotation in both flexion + extension • Hip pain o Frequently radiating to the thigh, knees, groin, buttocks o Gets worse with activities • Muscle wasting of the gluteal muscles + quadriceps o Trendelenburg’s sign might be positive • Later stage of the disease o Global reduction in all ranges of motion with associated pan indicative of joint arthritis • Roll test o Patient lying in supine position o Examiner rolls the hip of the affected extremity into external and internal rotation o Test should invoke guarding or spasm, especially with internal rotation

Question 35

Hand foot and mouth disease signs + sx

Answer 35

• Prodromal period – may last 12-3 hours o Fever (38-39) o Malaise o Loss of appetite o Cough o Abdominal pain o Myalgia o Sore mouth/throat o Vomiting if enterovirus 71 • Vesicular eruptions in the mouth (enanthem) o Scattered ulcerative lesions o Occur within 1-2 days o Begin as 2-8mm erythematous macules + papules o Appear most commonly on the hard palate, tongue, buccal mucosa, lips, pharynx • Papulovesicular lesions of the distal limbs (exanthem) o Macules + papules of the hands + feet usually soon follow oral lesions o Progression – flat pink patches  small elongated greyish blisters with an erythematous halo  peel off + leave no scars within week/10days o 2-5mm sparse erythematous macules + pappules o Central greyish vesicle o Sides of fingers, dorsum of hands, margins of heels > palms, soles o Elliptical lesions, long axis running parallel to the skin lines o Buttocks + groin area may also be affected o Lesions may be asymptomatic or painful or puritic • Coxsackie virus A6 o More widespread rash o Extends beyond the palms + soles o May preferentially occur in areas prone to atopic dermatitis (antecubital + popliteal fossae) o Petechiae + severe blistering o Skin peeling and/or nail shedding • Other sx o Vesicle + ulcers in the mouth may make eating difficult – child eats little, frets, may complain of a sore throat or mouth sores

Question 36

Chickenpox symptoms + signs

Answer 36

• Prodrome o Fever o Malaise o Nausea o Myalgia o Anorexia, loss of appetite, feeding problems o Headache • O/E o Vesicular rash  Small, erythematous macules appear on the scalp, face trunk, proximal limbs  Progress over 12-14 hours to papules, clear vesicles (which are intensely itchy), pustules  vesicles can also occur on the palms and soles  Mucous membranes can also be affected with painful + swallow oral or genital ulcers  Vesicles appear in crops – stages of development of the rash can therefore differ on different areas of the body  Crusting occurs usually within 5 days of the onset of the rash + crusts fall off after 1-2 weeks o Fever

Question 37

Mumps symptoms and signs

Answer 37

• Parotid swelling o Typically, 1 parotid gland is affected first, reaching a maximal size after 2-3 days with the other gland closely following it  During the period of enlargement the person may complain of earache and have difficulty with pronunciation of words or chewing o About 25% of people have unilateral parotitis  Affected gland may be tender to touch  “ear pain”, “pain on eating” • Earl lobe over affected gland may be deflected upward + outward • Angle of the mandible may be obstructed (this does not occur with cervical lymphadenopathy) • Non specific symptoms – might precede parotitis – typically occur 1 day before overt signs of parotitis + peak around the time the parotid glands are most swollen o Low grade fever o Headache o Earache o Malaise o Muscle ache o Loss of appetite • 15-20% of people may be asymptomatic (more common in children)

Question 38

Measles symptoms and signs

Answer 38

• Prodromal symptoms o Occur 10-12 days after contracting the infection o 2-4 days (incl. malaise, fever, cough, rhinorrhoea, conjunctivitis) before the characteristic skin rash develops • Cough + coryzal symptoms + conjunctivitis + fever of >39oC without antipyretics + maculopapular rash • Rash • Fever o Increases during the prodromal phase to around 39 at about the time the rash appears, then gradually decreases • Koplik’s spots o Appear on the buccal mucosa at the end of the prodroma phase + around the same time a the rash, disappear over the next couple of days o 2-3mm red spots with white or blue-white centres o Pathognomonic for measles • Rash o Starts on the face and moves downwards  Appears on the face + behind the ears first (when other symptoms tend to be at their most severe) before descending down the body to the trunks and limbs + forming on the hands + feet last over the course of about 3-4 days o Then fades after it has been present on an area for about 5 days o Total duration of rash – 1 week

Question 39

CF signs and symptoms

Answer 39

• Clubbing * Failure to pass meconium * Meconium ileus – bowel obstruction with meconium, can lead to bowel peroration + meconium peritonitis * Bowel obstruction – hx of decreasing stool numbers over time +/- abdominal distension or vomiting • Voracious appetite – infants never seem satiated ``` • Respiratory tract disease o Mucus retention  infection  inflammation o Wet sounding cough o Recurrent infection o Chronic sinusitis ``` • Pancreatic dysfunction o Calorie malabsorption o Malabsorptive stool with steatorrhoea (bulky, greasy stools) • Failure to thrive * Genital abnormalities in males – bilateral absence of vas deferens * GORD ``` • Distal intestinal obstruction syndrome • Meconium ileus = in neonate • DIOS = after neonatal period o Acute onset peri-umbilical or RLQ abdominal pain + o Palpable mass in RLQ o Faecal loading in RLQ, small intestine air-fluid levels on plain AXR o Vomiting (esp. bilious), abdominal distension – i.e. clinical features of partial or complete intestinal obstruction ```

Question 40

Faecal impaction signs and symptoms

Answer 40

overflow soiling +/or faecal mass palpable abdominally +/or rectally if indicated can be seen on AXR

Question 41

Red flag symptoms in a child presenting with constipation

Answer 41

Failure to pass meconium/delay (>48 hours after birth [in term baby]) Previously unknown or undiagnosed weakness in legs, locomotor delay (e.g. falling over in a child/young person >1y) Marked abdominal distension with vomiting Abnormal appearance/position/patency of anus: fistulae, bruising, multiple fissures, tight or patulous anus, anteriorly placed anus, absent anal wink Gross abdominal distension Abnormal: asymmetry or flattening of the gluteal muscles, evidence of sacral agenesis, discoloured skin, naevi or sinus, hairy patch, lipoma, central pit (dimple that you can't see the bottom of), scoliosis Deformity in lower limbs e.g. talipes Abnormal neuromuscular signs unexplained by any existing condition e.g. cerebral palsy Abnormal reflexes

Question 42

Pyloric stenosis signs + symptoms

Answer 42

• Hx of feeding intolerance with multiple formula changes • Progressive, recurrent, projectile, non-bilious vomiting • Failure to thrive/weight loss may progress to increasing volume depletion • Olive shaped mass may be palpable in the right upper abdomen • Dehydration • Other signs – tachycardia,  wet nappies, dry mucous membranes, flat or depressed fontanelles, constipation, irritability • Visible peristalsis can be visualised as the stomach tries to push its contents past the obstruction • US o Pyloric channel length >17mm o Pyloric muscle thickness >4mm

Question 43

GORD symptoms and signs in <1

Answer 43

• <1 o Effortless spitting up of 1 or 2 mouthfuls of stomach contents = normal, common, consistent with GOR o Difficult to differentiate between gastro-oesophageal reflux (GOR) + gastro-oesophageal reflux disease (GORD) – no reliable diagnostic test o GOR – more common after meals + when infant is in a recumbent position ``` • <1 o Excessive crying o Crying while feeding o Adopting unusual neck postures o Hoarseness and/or chronic cough o A single episode of pneumonia o Unexplained feeding difficulties e.g. refusion to feed, gagging, choking o Faltering growth ```

Question 44

GORD red flags

Answer 44

o Frequent, forceful (projectile) vomiting – hypertrophic pyloric stenosis in <2m o Bile-stained vomit – intestinal obstruction o Abdominal distension, tenderness, palpable mass – intestinal obstruction or acute surgical condition o Blood in vomit – potentially serious bleed from oesophagus, stomach or upper gut o Bulging fontanelle or altered responsiveness -  ICP, meningitis o Rapidly  HC (>1cm/week), persistent morning headache, vomiting worse in the morning -  ICP (hydrocephalus, SOL) o Blood in the stool – bacterial gastroenteritis, infant cow’s milk protein allergy o Chronic diarrhoea – cow’s milk protein allergy o With, or at high risk of atopy – cow’s milk protein allergy o Dysuria – UTI o Appearing unwell or fever – infection o Onset of regurgitation and/or vomiting >6m or persisting after 1y – suggest other cause rather than reflux e.g. UTI

Question 45

GORD symptoms and signs in >1

Answer 45

o Heartburn o Retrosternal pain o Epigastric pain

Question 46

Non bullous impetigo signs and symptoms

Answer 46

• Non-bullous impetigo o Usually asymptomatic o May be mildly itchy o Systemic features are uncommon  Regional lymphadenopathy + fever in severe cases o Lesions begin as thin-walled vesicles or pustules (seldom seen on clinical examination as they rupture quickly)  release exudate forming a characteristic golden/brown crust o Once crusts have dried they separate  mild erythema which then fades o Healing occurs spontaneously without scarring within 2-3 weeks  Course may be more prolonged in people with pre-existing skin conditions (e.g. eczema, scabies) or in hot/humid climates o Lesions can develop anywhere in the body – most common on exposed skin on the face (peri-oral + peri-nasal areas), limbs, flexures (e.g. axillae) o Satellite lesions (smaller lesions near the edges of the principal lesion) may develop following autoinoculation

Question 47

Bullous impetigo sgns and symptoms

Answer 47

impetigo o Systemic features if large areas of skin are affected – fever, lymphadenopathy, diarrhoea, weakness o Lesions appear as flaccid fluid filled vesicles + blisters (diameter 1-2cm) – can persist for 2-3 days o Blisters rupture  thin flat yellow/brown crust o Healing usually occurs without scarring within 2-3 weeks o Lesions can develop anywhere in the body – most common on flexures, face, trunk, limbs o May be particularly widespread in infants

Question 48

Kawasaki disease symptoms and signs

Answer 48

• Fever o >39 o Abrupt onset o At least 5 days duration o Unresponsive to abx • Extreme irritability o Much greater that would be expected for the magnitude of fever o Poor intake, abdominal pain, nausea, diarrhoea • Polymorphic rash – maculopapular erythematous rash o Comes on within 3-5 days o Begins with nonspecific erythema of the soles, palms, perineum o Spreads to involve the trunk and the rest of the extremities o Itchy o Never vesiculo-bullous • Conjunctivitis/ conjunctival injection – non-purulent, non-exudative • Mucosal erythema o Hx or physical findings of dry, erythematous, fissured lips that bleed easily o Erythema of the oral + pharyngeal mucosa o Strawberry tongue with prominent papillae + erythema o No oral exudates, ulcerations, Koplik spots • Strawberry tongue • Skin changes in the peripheral extremities o Tender Induration (sclerosis) of hands and feet o Refusing to ambulate o Acute changes – swelling + erythema of the hands + feet o Subacute changes – desquamation  May affect the perineal area, moving to fingers and then toes o Nails  Periungual desquamation of fingers + toes about 2 weeks after onset  Beau lines – 1-2 months after onset • Unilateral non-purulent cervical lymphadenopathy • Coronary artery aneurisms o Not a key feature in the classic presentation of Kawasaki disease o Key feature in incomplete/atypical presentation • Other sx o Lethargy, urethritis, D+V, abdominal pain, myalgia, arthralgia, arthritis o Neck stiffness – aseptic meningitis o Hepatomegaly, jaundice o CV – pancarditis, aortic or mitral incompetence o GI – hydrops of gallbladder, jaundice, D o Blood – mild anaemia o Renal – sterile pyuria, mild proteinuria o CNS – aseptic meningitis o MSK – arthritis, arthralgia o Others – anterior uveitis, BCG- site inflammation

Question 49

Acute phase Kawasaki disease Time from fever onset predominant features

Answer 49

1-2 weeks ``` Highly febrile Very irritable. Toxic-appearing. Oral changes rapidly following. Oedema and erythema of feet. Rash especially common in the perineal area. ```

Question 50

Subacute phase Kawasaki disease Time from fever onset predominant features

Answer 50

2-8 weeks ``` Gradual improvement. The fever settles. Desquamation of the perineum, palms, soles. Arthritis, arthralgia. Thrombocytosis. Coronary artery aneurysms. Myocardial infarction. ```

Question 51

Convalescent phase Kawasaki disease Time from fever onset predominant features

Answer 51

Months to years ``` Resolution of remaining symptoms. Laboratory values return to normal. Aneurysms may resolve or persist. Beau's lines. Cardiac dysfunction and myocardial infarction may still occur. ```

Question 52

Precocious puberty symptoms and signs

Answer 52

• Pubic/axillary hair o Pubic + axillary hair, acne, body odour  androgens o Onset of axillary hair typically occurs in mid-puberty o Pubic/axillary hair in the absence of breast development in girls/ testicular enlargement in boys  premature adrenarche  CAH, adrenal gland tumours, Cushing’s syndrome • Menarche o Occurs in stage 4 puberty, within 2-3 years after the onset of breast development • Increased growth velocity o Oestrogen is the factor that mediates the increased growth hormone response during puberty o Tall structure in childhood due to an accelerated rate of linear growth o Normal or short stature as an adult due to early fusion of the epiphyseal growth plates • Tall stature • Girls – breast development • Boys – testes >4ml or >2.5cm longest axis (prader orchidometer)

Question 53

CAH symptoms + signs

Answer 53

• Salt-wasting CAH o Can occur as early as 1-4 weeks of age o In utero getting hormones/steroids from mother(mother’s cortisol stays in baby for 1 day). After 1 day Addisonian crisis o Poor feeding o Weight loss o Failure to thrive o Vomiting o Hypotension o Hyponatraemia, hyperkalaemia • Signs of hyperandrogenism o Children– precocious puberty, early onset of facial, axillary, pubic hair, adult body odour, rapid somatic growth o Adolescents + adults – temporal balding, severe acne, irregular menses (primary/secondary amenorrhoea, delayed menarche), hirsutism, infertility o Females – virilised at birth or may become virilised post-natally, Oligomenorrhoea, amenorrhoea, delayed menarche, PCOS, acne, hirsutism, alopecia, impaired fertility, temporal baldness o Males – no signs at birth except subtle hyperpigmentation, early beard growth, enlarged phallus, small testes, short stature, oligozoospermia • Atypical genitalia o Males – smaller testes in comparison to the phallus, hyperpigmentation of the scrotum (might be the only presenting sign) o Females – clitoromegaly, fused labia, common urogenital sinus in place of a separate urethra + vagina o Degree of virilisation in females can be graded based on the Prader score • Premature adrenarche • Precocious puberty • Infertility • Short stature o  adrenal androgens through conversion to oestrogen  early fusion of epiphyseal growth plates o Children with CAH have advanced bone age + accelerated linear growth velocity o Patients are often tall initially but shorter than mid-parental target height • Males with salt losing form – present at 7-14 days of life with salt losing crisis • Males with non-salt losing form – present with early virilisation at 2-4y

Question 54

Delayed puberty symptoms + signs

Answer 54

• Boys – tests <3ml (Prader orchidometer) • Girls – absent breast development – the first demonstrable sig of puberty in girls • Absent pubic/axillary hair • Absence of menarche o Menarche occurs in Tanner stage 4 breast development in the majority of girls • Absent growth spurt o Oestrogen either from the ovary or aromatised from testicular testosterone, is the factor that mediated the increased GH response during puberty o Growth spurt occurs in mid- to late puberty in boys + in stage 3 breast development in girls o It contributes 25cm of height in females + 30cm in males, on average • Anosmia o Kallman’s syndrome = hypogonadotropic hypogonadism + hypoplastic olfactory nerves • Short stature

Question 55

JIA symptoms + signs

Answer 55

• Joint pain – esp. during motion + on palpation • Joint swelling o Commonly at the knees in oligoarticular JIA o May be the only presenting symptoms o Examination of affected joints may reveal oedema o Synovial effusions + thickening • Morning stiffness o Stiffness upon waking or after periods of inactivity o Stiff gaits in the morning which improve after a few hours when lower extremity joints are involved o If wearing nappies – reluctance of the child to have a nappy change first thing in the morning • Limp – more pronounced in the mornings • Limited movement o Active disease – limitation secondary to pain o Long-standing disease – limitation secondary to joint contractures due to ligament/tendon tightening • Fever o High spiking fevers in systemic-onset JIA + not unusual in other subtypes o Dx of systemic JIA • 1-2 spikes of fever a day interspersed by normal temperature • Occurring daily for 2 weeks • Rash o Systemic onset JIA (key factor if SoJIA is suspected) • Evanescent, non-pruritic, non-fixed, erythematous rashes • Salmon coloured, seen on trunk + proximal extremities • Not typically seen on palms, soles or face • Co-occur with fevers – tends to disappear when fever is down • Koebner’s phenomenon – Rash can be elicited by scratching the skin • Enthesitis • Uveitis o Most common extra-articular manifestation o Can lead to visual impairment if disease is poorly controlled

Question 56

Syndromes that can cause intellectual disability/ developmental delay - characteristics DS fragile X syndrome Prader-Willi syndrome William's syndrome Turner's syndrome DiGeorge syndrome craniosynostosis Rett's syndrome

Answer 56

DS Oblique palpebral fissures, median epicanthic fold, low nasal bridge, low-set ears, central iris Brushfield spots, short curved fifth finger, and a single palmar crease fragile X syndrome Macrocephaly, long face, high arched palate, prominent jaw, epicanthic folds, macro-orchidism, and large ears are characteristic of fragile X syndrome. Strabismus may also be present. Prader-Willi syndrome Short stature, hypotonia, small hands and feet, and incomplete sexual development, often with cryptorchidism Children with mild cognitive impairment who have eaten poorly and been of low weight in early life, but who subsequently eat excessively and gain large amounts of weight at the age of 4 to 5 years William's syndrome Widely spaced teeth, long philtrum, wide mouth, and full lips Turner's syndrome Short stature, low-set ears, webbed neck, low hairline, and cubitus valgus DiGeorge syndrome Cleft palate, micrognathia, low-set ears, and facial dysmorphism craniosynostosis Skull deformity Rett's syndrome Girls with an initial normal development followed by regression of skills at age 1 to 2 years and epilepsy

Question 57

Symptoms and signs of SOL in pt w • If acute onset or regression of previously acquired skills  consider acquired disability due to intracranial pathology o Other specific LD or cognitive impairment may have been present for some time but only recently noted (e.g. starting school)

Answer 57

``` • SOL o Severe headaches that are worse in the morning o Vomiting o Visual disturbance o Newly developed squint o Focal neurological deficit ```

Question 58

Tic disorder signs and symptoms

Answer 58

• Start caudally (usually with blinking + coughing) • Premonitory sensation o Feeling of mounting inner tension or urge (premonitory urge) which is transiently relieved by tic expression • Ability to suppress tics o Involuntary but are usually temporarily suppressible • Increase by stress, fatigue, anxiety, excitement • Decrease with distraction • Otherwise normal neurological examination tics can include • Can include any muscle group or vocalization but certain tic symptoms are more common – eye blinking, throat clearing

Question 59

``` Give examples of • Simple motor tics • Simple vocal tics • Complex vocal tics • Complex motor tics ```

Answer 59

* Simple motor tics – short duration (milliseconds) – can include eye blinking, shoulder shrugging, extension of extremities * Simple vocal tics – throat clearing, sniffing, grunting, squeaking, sound like “eep!” – often caused by contraction of the diaphragm or muscles of the oropharynx * Complex vocal tics – linguistically meaningful sounds, sentences, swearing, echolalia, palilalia * Complex motor tics – longer duration (seconds) – combination of simple tics e.g. simultaneous head turning + shoulder shrugging * Complex tics – can appear purposeful

Question 60

Osteochondritis dissecans symptoms + signs

Answer 60

• Typical presentation o Vague knee pain o Worse with exercise o Locking, catching, giving way • Bilateral in up to 25% • Variable presentation • Traumatic or atraumatic o The majority of osteochondritis dissecans lesions involving the knee + elbow do not involve a known traumatic injury + are more insidious in onset o This is in contrast to lesions involving the talus – commonly associated with injury • Insidious onset • Non-specific joint pain • Exacerbation of symptoms with exercise (especially stair- or hill-climbing) • Recurrent effusion Demonstrates intra-articular pathology o • Locking/catching of joint  may correlate with an intra-articular loose body • Decreased range of motion o Can be present in all involved joints o May be related to a large effusion or mechanical block from an intra-articular loose body o Loss of extension commonly seen with osteochondritis dissecans of the capitellum • Location of pain o Anteromedial aspect of the knee with the knee flexed to 90 degrees • Classic osteochondritis dissecans lesion involving the lateral aspect of the medial femoral condyle o Lateral aspect of elbow o Posteromedial aspect of dorsiflexed ankle o Anterolateral aspect of plantar-flexed ankle • Other signs o Quadriceps weakness + disuse atrophy o Focal bony tenderness o Small knee effusion o Limitation of knee extension o Antalgic gait (if involvement of knee/talus) o External rotation gait (if involvement of the knee)

Question 61

Osteomyelitis symptoms + signs

Answer 61

* Usually involves a single bone – may rarely affect multiple sites * May occur in the peripheral or axial skeleton • Limb or reluctance to weight bear • Reduced range of movement • Malaise + fatigue • Local back pain associated with systemic symptoms - ?vertebral osteomyelitis o Pain localised to infected disc space area, worsened by physical activity or percussion to the affected area, may radiate to the abdomen/hip/leg/scrotum/groin/perineum o Spinal cord or nerve root compression + meningitis may occur • Paravertebral muscle tenderness + spasm • Local inflammation, tenderness, erythema, swelling • Fever >38

Question 62

Signs of improving osteomyelitis

Answer 62

``` Signs suggestive of clinical improvement • Apyrexia • Increased mobility • Decreased inflammation • Decreased pain • Decreasing CRP ```

Question 63

Food allergy sx

Answer 63

Immediate IgE-mediated food allergy • Classical sx which develop within s or m to 1-2h after ingestion of a specific trigger food • Typically resolve before 12h o Systemic – respiratory distress, severe wheezing, hypotension, tachycardia or bradycardia, drowsiness, confusion, collapse, LOC  suggests life-threatening anaphylaxis o Skin – urticaria, angio-oedema (lips, face, around eyes), erythema, generalised itching, flushing o Respiratory – persistent cough, hoarseness, wheeze, breathlessness, stridor, nasal discharge, congestion, itching, sneezing o GI – N, V, D, abdo pain

Question 64

Oral allergy syndrome sx

Answer 64

Oral allergy syndrome • Mild, transient, localised urticaria + associated tingling, itching, swelling of the lips, tongue, and throat • Often co-morbid allergic rhinitis sx after ingestion of fresh fruit or vegetables • Symptoms tend to be worse when the pollen count is high

Question 65

Latex fruit syndrome sx

Answer 65

Latex-fruit syndrome • People with known latex allergy may present with a variety of sx incl. urticaria, angio-oedema, oral symptoms, anaphylaxis following ingestion of certain fruits + nuts

Question 66

Angio-oedema sx + signs

Answer 66

* Swelling of the deep dermis, SC or submucosal tissue * Often affects the face (lips, tongue, eyelids), genitalia, hands, feet * Less commonly, the submucosal swelling affects the bowel + airway

Question 67

Hereditary angio-oedema (HAE)/ Acquired angio-oedema (AAE)

Answer 67

• Presents after puberty (HAE), presents after the 4th decade of life (AAE) • Characterized by recurrent oedema of the limb, trunk, face, genitals • Swellings o Non itchy, non-pitting, painless o Take 24h to peak o Resolve over 48-72h • GI sx o Abdominal pain, N, V abdominal distension, D, constipation o Can mimic an acute abdomen • Upper airway swelling o Less frequent manifestation o May affect oropharynx (tongue, soft palate) or larynx o Laryngeal swelling can cause death from asphyxiation

Question 68

Anaphylaxis symptoms and signs

Answer 68

Likely when all of the following 3 criteria are met • Sudden onset + rapid progression of symptoms o Person will feel + look unwell o Occur over several minutes o Depends on the type of trigger – IV trigger causes more rapid onset than PO triggers o Person will appear anxious + experience a sense of impending doom • Life-threatening A and/or B and/or C problems o A – airway swelling (e.g. pharyngeal/laryngeal oedema), DIB, difficulty swallowing (feeling of the throat closing up), hoarse voice, stridor o B – SOB,  RR, wheeze, tiredness, confusion, cyanosis, SpO2 <92%, respiratory arrest o C – shock (pale, clammy),  HR, BP, decreased level/loss of consciousness, cardiac arrest, myocardial ischaemia, ECG changes o D – confusion, agitation • Skin or mucosal changes o Often the first features – present in >80% of anaphylactic reactions o Can be subtle or absent in up to 20% of reactions or dramatic o Should be assessed as part of E in ABCDE o Erythema, urticaria, angio-oedema • Some people may only present with  BP • GI sx – vomiting, abdo pain, incontinence • Dx supported by the person’s exposure to a known allergen • Be aware that o Skin changes without life-threatening ABC problems do not signify an anaphylactic reaction

Question 69

Henoch Schonlein purpura/ IgA vasculitis symptoms and signs

Answer 69

• Patient appears to be mildly ill, low-grade fever • Classic tetrad o Palpable purpuric rash o Joint pains o GI symptoms o Renal involvement • Purpuric rash o Palpable purpura o Symmetrical o Non blanching o 2-10mm lesions – represent the extravasation of blood into the skin o Usually appear in crops o Within 24h the macules evolve into purpuric lesions which may coalesce and resemble bruises o Fade over several days to weeks o Typically concentrated on the legs + buttocks o Leukocytoclastic vasculitis with IgA deposition o Present in all cases o • Arthritis/arthralgia o Often associated with oedema o Knees and ankles most often affected o May be swollen and tender but permanent deformity does not occur o 80% of pt • Abdominal pain o Associated with N+V o May be associated with bloody diarrhoea o 50% of pt • Glomerulonephritis o Occurs within 3 months of disease onset o Can vary from mild (i.e. asymptomatic haematuria and/or proteinuria) to severe (i.e. rapidly progressive nephritis, nephrotic syndrome, renal failure) o Can produce microscopic haematuria, proteinuria, RBC casts o Oliguria + htn are uncommon o 40-50% of pt • Scrotal pain or swelling o May mimic testicular torsion o May occur in 13% of boys • CNS symptoms – headache, seizures

Question 70

Hypospadias sx + signs

Answer 70

• Incomplete prepuce (foreskin) o Hallmark o Helps diagnose hypospadias at birth • Abnormal location of urethra

Question 71

phimosis sx + signs

Answer 71

Phimosis • Foreskin adherent to glans o Can be expected in children <3 years + may be a normal fining up until the age of puberty • Dyspareunia + painful erections • Penile cicatrix o Boys who have recurrent episodes of balanitis or balanoposthitis are at risk of developing cicatrix (constrictive, sclerotic white ring at the tip of the foreskin) • Penile adhesions + smegma o Glandular adhesions between the glans + the prepuce o Smegma – whitish collection of desquamated cells

Question 72

Paraphimosis sx + signs

Answer 72

* Penile glans oedema with a retracted foreskin proximal to the glans penis * Penile pain + swelling

Question 73

Tuberous sclerosis complex TSC sx + signs

Answer 73

SKIN + MUCOSAL SURFACES + TEETH • Gingival fibromas o 40-50% of adults with TSC o If these are large, local bleeding + disruption of normal tooth alignment can occur • Dental pits o Large holes + multiple in number over the enamel surface o  can see the dots on the teeth • Hypopigmented macules (ash leaf spots) o Occur in 96% of patients o Visualisation can be enhanced with the use of a Wood’s lamp o • Shagreen patches (connective tissue nevus) o Most often located in the lumbosacral flank o Usually evident by 10 years of age o Noted in about 15% of patients with TSC o • Facial angiofibromas o Hamartomatous nodules of vascular + connective tissue o Butterfly pattern o Appear at about 3-4 years of age, increase in size + number of life o 50% of patients with TSC o (Can also be seen in about 80% of patients with MEN-1) o • Ungual fibromas o Non traumatic (may be trauma-induced in patients without TSC) o Toes > fingers, females > males, 20% of patients with TSC o Usually develop in the second decade of life o • Cephalic plaques o Hamartomatous patches of vascular + connective tissue with collagen deposition o Typically on the forehead or scalp line o Usually present at birth and enlarge + calcify by adulthood o Noted in about 10% of patients with TSC o BRAIN • Cortical tubers o Most common growth in the brain o Also called glioneural hamartomas o Arise from supportive glial cells + neurones • Cerebral subependymal calcified nodules (SEN) o Hamartomas that form under the ependyma, the thin membrane that lines the ventricles in the brain o Identifiable adjacent to the ventricular wall as small protrusions into the CSF cavity o Often calcified by infancy – Characteristic calcification can be seen on CT o The nodules are composed of dysplastic astrocytes + mixed lineage astrocytic components o • Giant cell astrocytoma (SEGA) o Cancer that can arse from subependymal nodules o SENs with a predilection for the region around the foramen of Monro may enlarge due to cellular proliferation – therefore they are designated a subependymal giant cell astrocytoma o Occur in 10-15% usually by 10 years of age o Enlargement may produce obstruction of CSF pathways + invasion into the underlying hypothalamic and chiasmatic region • Epilepsy o Most common presenting symptom of the disorder o All seizure types may develop with the exception of pure absence epilepsy o Most often becomes manifest in childhood o Infantile spasms may be the presenting symptom in 1/3 of the patients • Autism o Autism – 25%, ASD – 40-50% • Cognitive impairment • Behavioural problems Other presentations • Retinal nodular hamartomas o Usually cause no visual disturbance o Are evident by 2 years of age o Evolve from being translucent to having calcification o Composed of glial astrocytic fibres or an achromic patch • Renal lesions o Renal lesions in 60-80% of patients o 75% renal angiomyolipomas (AML), 20% cysts o Progress in adolescence and adulthood o AMLs increase in size + number over life, whereas cysts may regress o AMLs are made of a benign mix of blood vessels, smooth muscle, fat o AMLs – pain + haemorrhage in adulthood o Cysts – HTN + renal failure o Rarely there can be a malignant AML or RCC • Lymphangioleiomyomatosis of lung (LAM) o 40% of F o Identified in females only o Arises from metastases from renal angiomyolipomas o Produces progressive cystic cavitations within the lung, which lead to declining air exchange and ultimately death o Symptomatic presentations can be with spontaneous pneumothoraxes or chylothorax • Neonatal cardiac rhabdomyomas o Can be identified at 22 weeks gestation (ventricles > atria, septum > walls) o Regress in early childhood o Are generally asymptomatic o Symptoms (arrhythmias, outflow obstruction, thromboembolism) are rare + typically evident in the neonatal period

Question 74

Tuberous sclerosis complex TSC clinical dx criteria

Answer 74

Clinical diagnostic criteria Definitive TSC = 2 major features or 1 major >2 minor features Possible TSC = either 1 major or >2 minor features ``` • Major features: o Angiofibromas (>3) or fibrous cephalic plaque o Ungual fibromas (>2) o Hypomelanotic macules (>3, at least 5 mm in diameter) o Shagreen patch (connective tissue nevus) o Cortical dysplasias* o Subependymal nodules o Subependymal giant cell astrocytoma o Multiple retinal hamartomas o Cardiac rhabdomyoma o Lymphangioleiomyomatosis (LAM)** o Angiomyolipomas (>2).** • Minor features: o Dental enamel pits (>3) o Intra-oral fibromas (>2) o Non-renal hamartomas o Retinal achromic patch o Confetti' skin lesions o Multiple renal cysts. ```

Question 75

Reactive arthritis symptoms and signs

Answer 75

• Acute onset with malaise, fatigue, fever, weight loss • Arthritis (peripheral + axial, asymmetrical, oligoarthritis, lower limbs-large joints) o Painful, swollen, warm, red, stiff joints esp. in the morning • Spondylitis (spine inflammation, sacroiliitis, lumbosacral spine) – lower back pain adnd/or buttock pain + stiffness, esp. during times of inactivity o Symptoms relieved by exercise – this distinguishes spinal inflammatory arthritis from mechanical causes of back pain • Enthesitis (heel pain (achilles’ tendon, plantar fascia), metatarsalgia (bc of inflammation of planta fascia)) • Dactylitis • Skin inflammation (circinate balantits, keratoderma blennorhagicum) • Reiter’s syndrome • Nails (dystrophic changes) • Mucous membranes (mouth ulcers) • Eye inflammation (sterile conjunctivitis, iritis) • Sterile urethritis • Chronic ReA (>6m) – thoracic + cervical spine involvement

Question 76

transient synovitis signs and symptoms

Answer 76

• Acute presentation • Mild to moderate hip pain o On hip movement, even with passive movement o There may be tenderness on palpation of the hip or groin • Limited hip movement o Patient will usually allow movement through a limited arc of motion o Restriction of motion may be particularly apparent in abduction + internal rotation o Some patients may not display any restriction in hip movement • Patients will typically be able to walk but with a noticeable limp + for limited distances • Positive log roll o Most sensitive test for transient synovitis of the hip o Supine patient + leg is rolled gently from side to side o Positive test = involuntary muscle guarding in the affected limb • Temperature <38.5oC (if higher, consider septic arthritis) • Abducted + externally rotated hip • Effusions might be present

Question 77

septic arthritis signs + symptoms

Answer 77

* Acute presentation (sx present for <2w) * Hot swollen acutely painful joint * Restriction of movement * Pain on / Restriction of active/passive movement – indicates an intra-articular effusion * Fever (>38.5oC), rigors * Acute Monoarthropathy (only occurs at a single joint) – but up to 22% of patients with septic arthritis have oligoarticular or polyarticular disease * Knee most common joint involved then hip, shoulder, ankle, writs * Triad of fever, pain, impaired range of motion * Most patients with septic arthritis of a weight-bearing joint will not be able to walk * Gonococcal septic arthritis – prodrome of polyarthralgia that localises over time to one joint along with fever, chills, skin lesions * Proportionality of symptoms – suspect a septic joint if symptoms are out of proportion to disease activity elsewhere

Question 78

slipped upper/capital femoral epiphysis SUFE SCFE signs + sx

Answer 78

• Pain o Acute/insidious onset o Pain worsens with activity o Intermittent pain in the groin – can sometimes feel like it’s coming from the thigh or the knee • Gait o Limp o Trendelenburg’s gait  Child may lean the trunk towards the affected side  Test is performed by having the child stand on the affected leg with the knee flexed + the hip extended o Gait with affected leg externally rotated • Restricted range of motion on passive + active flexion of the hip • Severe o Unable to walk o Affected leg might appear 1-2cm shorter + externally rotated compared to the unaffected leg o Difficult to do internal rotation + abduction • Trethowan’s sign o Line of Klein passes above the femoral head https://bestpractice.bmj.com/api/image/757/en-gb/normal/757-5_default.jpg?status=ACTIVE

Question 79

Neuroblastoma signs and symptoms

Answer 79

• Abdominal mass o Most common presentation of neuroblastoma • Abdominal distension • Pain o Abdominal pain is common if primary site is the abdomen o Bone pain common in patients with metastatic disease o Back pain may indicate spinal disease – presence of neurological signs + symptoms may indicate spinal cord compression • General systemic symptoms – common, may indicate metastatic spread o  appetite o Weight loss o Fussiness (infants) o Fatigue • Periorbital ecchymosis – if orbital metastases • SC skin nodules o Palpable, non-tender, non-erythematous skin nodules o Common in infants, associated with metastatic spread • Constipation – secondary to mass effect of abdominal tumour • Infants – typically present with an asymptomatic adrenal mass detected on routine prenatal US • May also have failure to thrive, skin metastasis, exophthalmos, periorbital ecchymoses • Patients with localised disease may be asymptomatic

Question 80

Retinoblastoma signs + symptoms

Answer 80

• Leukocoria (white pupillary reflex rather than red) – presenting sx • Strabismus • Pseudo-orbital cellulitis • Visual disturbances – more common in bilateral cases • Ocular pain – uncommon symptom • Often causes exudative retinal detachment with vitreous seeding o Vitreous seeding = tumor cells floating within the vitreous cavity – these tumour cells frequently deposit and grow on the retina • Pinealoma o Tumour of the pineal gland o Occurs in patients with a germinal mutation o Can occur in conjunction with bilateral retinoblastomas (trilateral retinoblastoma)

Question 81

Wilm's tumour/nephroblastoma signs + symptoms

Answer 81

• Unilateral, painless, abdominal/flank mass • Rarely presents bilaterally • Sometimes with • Abdominal distension o Abdominal pain o Pallor, SOB  Due to anaemia o Haematuria o Varicocele  Left side since L testicular vein drains indirectly to the IVC via the L renal vein  Therefore blockage of the L renal vein will cause build up of blood in the L testicular vein leading to a varicocele Other signs and symptoms that may be present • Hypertension – secondary to compression of renal vasculature or renin hypersecretion • Haematuria • Fever – may result from release of pyrogens from the tumour, host immune response or due to bacterial infection in the lung or urinary tract • If it metastasises o Lymphadenopathy o Hepatomegaly o Cholestasis o Bone tenderness or pain o SOB • Features of paraneoplastic syndrome o Might affect the PNS + CNS o Generalised weakness, fatigue, ptosis, hypokinesis, dysarthria, urinary retention, facial diplegia, ophthalmoplegia, autonomic dysfunction

Question 82

undescended testes / cryptorchidism signs + symptoms

Answer 82

• Malpositioned or absent testis • Palpable cryptorchid testis o Unable to be pulled into the scrotum or quickly returns to a higher position after being pulled into the scrotum o About 80% of all undescended testes are palpable • Non-palpable testis • Testicular asymmetry o Unilateral undescended testis may be smaller than the contralateral descended testis at birth • Scrotal hypoplasia or asymmetry o Scrotal skin may be well developed or poorly developed with decreased rugae and lighter colour than the contralateral scrotum in cases of unilateral undescended testis o Testicular hypertrophy may be a predictor of monorchidism • Retractile testis o Testis that is located in a suprascrotal position but can be pulled down without pain into the scrotum and remains there after traction is released o Retracts back to an inguinal position after a variable time following manipulation o Testicle that may move back and forth between the scrotum and the groin

Question 83

Noonan syndrome

Answer 83

• Abnormalities identified AN o Polyhydramnios o Cystic hygroma o Scalp oedema o  nuchal translucency o Pleural/pericardial effusion o Ascites +/- hydrops • Unusual facial features – wide spaced + down-slanting eyes with vivid blue/blue-green irises // low-set posteriorly rotated ears // inverted triangular shaped face with small chin // broad /webbed neck // sparse or absent eyebrows and lashes • Ophthalmic abnormalities • Short stature – 3rd centile • Failure to thrive – feeding difficulties due to hypotonia and poor coordination of oral musculature • Cardiac anomalies – PS/ pulmonary valve dysplasia, septal defects, hypertrophic cardiomyopathy, ToF • Chest deformity – broad chest with wide spaced, low nipples, pectus carinatum superiorly, pectus excavatum inferiorly • Skeletal anomalies – cubitus vulgus (increased carrying angle of forearm), short fingers, joint hyperextensibility • Muscle weakness • Easy bruising or bleeding – coagulation factor deficiency (F XI) / platelet dysfunction / both • Cryptorchidism • Delayed puberty – pubertal growth spurt often attenuated or absent, mean onset of menarche at 14 years • Variable degrees of developmental delay • Uncommon – splenomegaly (might be a feature of myelodysplasia), renal malformation (10%)

Question 84

Down's syndrome T21 symptom + signs

Answer 84

• Neonates o Hypotonia o Hyper-flexibility of joints o Poor Moro reflex • Brachycephaly with a flat occiput • Epicanthal folds and up slanting palpebral fissures • Brushfield spots in the iris • Short nose, low nasal bridge small nares • Small, low set ears • Protruding tongue • Broad neck, extra skin on the back of the neck • Small hands with a single transverse crease • Hearing loss due to chronic ear infections • Gross motor delay • Language delay (expressive > receptive) • Global developmental delay – common, IQ ranges from mild to moderate LD • Behavioural difficulties – age-related o Individuals with DS are often social and affectionate o Externalising behavioural problems (opposition, hyperactivity, impulsivity, inattention) are more common in childhood o Internalising symptoms (shyness, withdrawal, anxiety) are more common in older adolescents • CHD – AVSD (most common form of CHD in DS), (AVSD > VSD > ASD > ToF) • ASD

Question 85

Turner's syndrome signs + symptoms

Answer 85

``` • Short stature (compared to mid-parental height) • Poor growth (<5th centile) • Shield chest, widely spaced nipples • Delayed/absent pubertal development • Primary amenorrhoea • CHD o Bicuspid aortic valve (15%)  systolic ejection murmur and/or click o Aortic coarctation (5-10%)  may present in the neonatal period with HF + HTN • Skeletal abnormalities o Cubitus valgus (wide carrying angle) o Short 4th metacarpals or metatarsals o Scoliosis • POI (15% secondary amenorrhoea) o Gonadotrophin levels elevated, low AMH • Webbed neck (20-30%) • Peripheral lymphoedema o Puffy dorsum of hands or feet o Maybe present in the neonatal period • Normal intelligence (verbal skills > performance or visuo-spatial skills) ``` * Dysmorphic features – low set ears, down slopping eyes, ptosis, hooded eyes, low posterior hairline, high arched palate * Multiple melanocytic naevi * Recurrent/severe otitis media * Horseshoe kidney * Hypothyroidism (Hashimoto’s thyroiditis) * Poor social skills

Question 86

Enuresis bedwetting with daytime symptoms daytime symptoms

Answer 86

``` o Urgency o Frequency (>7x/day) o Daytime wetting o Abdominal straining or poor urinary stream o Pain passing urine o Passing urine infrequently (<4x/day) ```

Question 87

Enuresis possible signs of child maltreatment

Answer 87

* Child is reported to be deliberately bedwetting and/or * Parents punish the child for bedwetting despite professional advice that the symptom is involuntary and/or * Child has secondary daytime wetting or secondary bedwetting that persists despite adequate assessment and management unless there is a medical explanation (e.g. UTI) or a clearly identified stressful situation that is not part of maltreatment (e.g. bereavement, parental separation)

Question 88

Tachycardia o <12m o 12-24m o 2-5y

Answer 88

o <12m - >160 o 12-24m - >150 o 2-5y - >140

Question 89

Tachypnoea o 0-5m o 6-12m o >12m

Answer 89

o 0-5m - >60 o 6-12m - >50 o >12m - >40

Question 90

• Signs of dehydration

Answer 90

``` • Signs of dehydration o Prolonged CRT o Abnormal skin turgor o Abnormal respiratory pattern o Weak pulse o Cool extremities ``` ``` o Poor urine output o Dry mouth o Sunken anterior fontanelle (usually closed by 18m) o Absence of tears o Sunken eyes o Ill appearance ```

Question 91

Traffic light system low risk group

Answer 91

* Normal colour of skin, lips, tongue * Responds normally to social cues * Content/smiles * Stays awake or awakens quickly * Strong normal cry or not crying * Normal skin + eyes * Moist mucous membranes

Question 92

Traffic light system intermediate risk group

Answer 92

* Pallor of skin, lips, tongue reported by parent * Not responding normally to social cues * No smile * Wake only with prolonged stimulation * Decreased activity ``` respiratory • Nasal flaring • tachypnoea • O2 sats <=95% in air • crackles in chest ``` ``` circulation + hydration • Tachycardia • CRT >3s • Dry mucous membranes • Poor feeding infants • Reduced UO ``` * Age 3-6m + Temperature >39oC * Fever >=5 days * Rigors * Swelling of limb/joint * Non-weight bearing limb/not used an extremity

Question 93

Traffic light system red risk group

Answer 93

• Pale/mottled/ashen/blue skin, lips, tongue * No response to social cues * Appearing ill to HCP * Does not wake or if roused does not stay awake * Weak, high-pitched or continuous cry ``` respiratory • Grunting • Tachypnoea • RR > 60 • Moderate/severe chest indrawing ``` Circulation + hydration • Reduced skin turgor * Age <3m + Temperature >38oC * Bulging fontanelle * Non-blanching rash * Neck stiffness * Status epilepticus * focal neurological signs * focal seizures

Question 95

T1DM signs and symptoms

Answer 95

* Hyperglycaemia * Polyuria * Polydipsia * Weight loss * Excessive tiredness * Polydipsia, polyuria * Nocturia or enuresis * Blurred vision * Unexplained weight loss * Recurrent infections * Tiredness * Behavioural changes e.g. reduced school performance and/or impaired growth * Acanthosis nigricans – insulin resistance.

Question 96

Osteosarcoma signs and symptoms

Answer 96

• Bone Pain o First and most common symptom o Worsening pain over weeks to months o Usually initially mild, becoming more severe o More severe at rest + at night o Deep, dull, boring, relentless • Bone Swelling – usually firm, sometimes tender and warm to the touch • Limp/ Antalgic gait • Loss of function of affected limb • Overlying skin ulceration if large tumour

Question 97

• Atypical UTI sx

Answer 97

``` o Seriously ill o Poor urine flow o Abdominal or bladder mass o  Cr o Septicaemia o Failure to respond to treatment with suitable abx within 48h o Infection with non E. coli organisms ```

Question 98

Commonest UTI sx in <3m

Answer 98

Fever Vomiting Lethargy Irritability

Question 99

Commonest UTI sx in >3m

Answer 99

Preverbal Fever Verbal frequency Dysuria

Question 100

DIC sx + signs

Answer 100

``` • Spontaneous bleeding • Generalised bleeding (evidenced by at least 3 unrelated sites) o Petechiae o Ecchymosis o Oozing o Haematuria o Epistaxis o Gingival bleeding o GIB ``` ``` • Circulatory collapse o Oliguria o Hypotension, Hypoxia o Tachycardia o Dyspnoea o Confusion, disorientation ``` • Microvascular/macrovascular thrombosis o Purpura fulminans – think meningococcal septicaemia o Gangrene o Acral cyanosis ``` • Other signs o Cough o Dyspnoea o Fever o Gangrene o Delirium/coma ``` * Haemolytic features (jaundice, conjunctival pallor) * Signs of ARDS * Osmosis: widespread clotting, organ ischaemia, MAHA, low plt + clotting factors

Question 101

Beta thalassemia sx

Answer 101

• Haemolytic anaemia (e.g. pallor, hepatosplenomegaly) o Several months after birth o Start when the γ production stops and starts being replaced by the β chain (HbF) o Jaundice, gallstones (due to haemolysis) o Secondary haemochromatosis (due to haemolysis) o Marked pallor, dizziness, SOB, fatigue, lethargy o Exercise intolerance, cardiac flow murmur, HF secondary to severe anaemia • Extramedullary haematopoiesis (characteristic of thalassaemia beta major) o Bone deformities o Chipmunk facies – frontal + parietal bossing, prominent facial bones, dental malocclusion o Hepatosplenomegaly, abdominal distension * Ineffective erythropoiesis  hypermetabolic state with fever * Β thalassaemia major in infancy  failure to thrive, vomiting, sleepiness, stunted growth, irritability * Iron overload can cause endocrinopathy with diabetes, thyroid, adrenal, pituitary disorders Beta thalassaemia intermedia • Pt are able to grow and develop at nearly normal rate despite moderate anaemia • Can become severely anaemic + develop symptoms at times of major stress to the body e.g. perioperatively, during a serious illness, during an infection • Splenomegaly

Question 102

ITP symptoms and signs

Answer 102

* Children typically present with sudden onset of mucocutaneous bleeding with extensive bruising and petechiae * Most manifestations are limited to the skin * Petechiae (primarily on the lower limbs, indicate small capillary haemorrhages) * Bruising * Large spontaneous bruising may appear on the arms + legs * Severe disease may be associated with bruising on the torso * Nosebleeds * Mucosal bleeding * Mucocutaneous bleeding of thrombocytopenia must be differentiated from the delayed visceral bleeding characteristic of coagulation disorders * A hx of previous bleeding points to alternative dx * Absence of * Systemic symptoms – no FLAWS, no sx of autoimmune disorders * Splenomegaly or hepatomegaly * Lymphadenopathy – if present, consider- lymphoproliferative, autoimmune or infectious aetiologies * Medicines that cause thrombocytopenia – heparin, alcohol, quinidine

Question 103

Thalassaemia A sx + signs

Answer 103

* Symptoms of haemolytic anaemia (e.g. pallor, hepatosplenomegaly) at birth in α thalassaemia because the α chains make up HbF along with the γ chains * Symptoms of anaemia – fatigue, dizziness, SO * Vast majority are asymptomatic + clinically well ``` • HbH patients o Many are clinically well o Risk for – acute haemolytic episodes, aplastic crises, iron overload, hypersplenism, endocrine disease o Growth retardation o Gallstones ```

Question 104

Sickle cell disease signs and symptoms

Answer 104

Symptoms + signs begin bn 3-6m when HbF levels are falling Very young infants may present with signs and sx of • Haemolysis (jaundice, pallor, tachycardia) • Splenic sequestration crisis (pallor, tachycardia, shock) * Anaemia (haemolysis) * Scleral icterus, jaundice, bilirubin gallstones (excess unconjugated bilirubin due to haemolysis) * raised reticulocytes >4 months • Dactylitis • Leukocytosis in the absence of infection • Invasive infection • Distended abdomen (splenomegaly), often with an umbilical hernia • Cardiac systolic flow murmur secondary to anaemia • Maxillary hypertrophy with overbite (extramedullary haematopoiesis) Intramedullary haematopoiesis • Enlarged cheeks • Hair on end appearance on skull XR Extra-medullary haematopoiesis • Hepatomegaly

Question 105

Vaso-occlusive/Sickle cell crisis sigs and symptoms

Answer 105

precipitated by cold, infection, dehydration, exertion, ischaemia • Suspect in a person with sickle cell disease who presents with sudden onset of pain, infection, anaemia, stroke, priapism * Pain (from oxygen deprivation of tissues + avascular necrosis of the BM) * Dactylitis * Avascular necrosis of the femur * Priapism * Cerebral vasculature  Stroke, mental status changes, moyamoya (haemorrhage from microaneurysms which develop around infarctions to bypass blocked arteries) headache (consider the possibility of intracranial haemorrhage or venous sinus thrombosis) * Kidneys  Haematuria, proteinuria, loin pain (renal papillary necrosis) • Lungs  acute chest syndrome o =New pulmonary infiltrate on the CXR combined with >1: fever, cough, sputum production, tachypnoea, dyspnoea, new-onset hypoxia o Chest pain, SOB, cough o Lung infections tend to predominate in children, infarcts predominate in adults o Pt isn’t breathing efficiently  oxygen levels will sink even lower  this will precipitate more sickling * Spleen  splenic infarct * Abdomen  acute abdominal distension, pain (mesenteric sickling and bowel ischaemia) * Eyes  hyphema, retinal occlusion

Question 106

Aplastic crisis signs and symptoms

Answer 106

Aplastic crisis (temporary cessation of erythropoiesis, causing severe anaemia) • Precipitated by infection with parvovirus B19 • Drop in Hb over one week • Recovery may be spontaneous but transfusion is usually required • With the severe anaemia associated with an aplastic crisis, patients may present with high-output CHF o Parvovirus infection  Transient red cell aplasia is characterized by pallor (due to anaemia, which can be severe), tachypnoea and tachycardia without splenomegaly and is most commonly due to parvovirus infection  Associated symptoms may include fever, headache, myalgia, arthralgia, and respiratory and gastrointestinal symptoms

Question 107

Hyper haemolytic crisis in sickle cell disease signs and symptoms

Answer 107

Hyper haemolytic crisis • Excessive haemolysis • Uncommon • During painful crises here may be a marked  in the rate of haemolysis + reduction in Hb

Question 108

Splenic sequestration in sickle cell disease signs and symptoms

Answer 108

Splenic sequestration • Splenomegaly • Acute splenic sequestration – acute fall in Hb, markedly elevated reticulocyte count, acute increase in spleen size • Life-threatening complication • Instead of just occluding the blood vessels, RBC can also get trapped inside the spleen along with a large portion of the circulating blood volume  this causes the spleen to massively enlarge • Rapid drop in haemoglobin  circulatory collapse  hypovolaemic shock • Recurrent splenic sequestration is an indication for splenectomy • Not having a functional spleen  pt susceptible to encapsulated bacteria (Strept. Pneumoniae, Haemophilus influenz, N. Meningitis, Salmonella species)

Question 109

Iron deficiency anaemia signs and symptoms

Answer 109

• Depends on how quickly the anaemia develops o Chronic slow blood loss – may be able to tolerate very low levels of Hb (<70 g/L) with few sx o Fatigue + mild dyspnoea after exertion – may be the only sx in otherwise healthy people with slow onset anaemia ``` • Very common/common sx + signs o Dyspnoea o Fatigue o Headache o Cognitive dysfunction o Restless leg sx o Pallor o Atrophic glossitis o Dry + rough skin, dry + damaged hair o Diffuse and moderate alopecia ``` ``` • Other o Dizziness/ light-headedness o Weakness o Dysgeusia o Irritability o Palpitations o Pruritus o Sore tongue o Tinnitus o Angular cheilosis o Nail changes e.g. longitudinal ridging, koilonychia o Worsening pre-existing tachycardia, murmurs, cardiac enlargement, heart failure ``` • Rare o Dysphagia (in association with oesophageal web which occurs in Patterson-Brown-Kelly or Plummer-Vinson syndromes) o Haemodynamic instability o Syncope Severe anaemia • Cardiac symptoms – angina, palpitations, ankle swelling, dyspnoea at rest (unlikely unless Hb level <70g/L + this indicated additional heart or lung pathology)

Question 110

Hallmark of haemophilia

Answer 110

• Musculoskeletal bleeding is the hallmark of haemophilia (intramuscular haematoma, haemarthrosis)

Question 111

Haemophilia A+B signs and symptoms

Answer 111

Haemophilia A Mild disease (>5% factor VIII activity level) • Bleed after major trauma or surgery Moderate disease (1-5% factor VIII activity level) • Presents with bleeding following venepuncture • Bleed after minor trauma or surgery Severe disease (<1% factor VIII activity level) • Intracranial haemorrhage – headache, stiff neck, vomiting, lethargy, irritability, spinal cord syndromes • Hx of spontaneous bleeding into joints (esp knees, ankles, elbows) without history of significant trauma o Spontaneous hemarthroses are virtually pathognomonic • Intramuscular haemorrhage If left untreated • Arthopathy + joint deformity • Excessive retroperitoneal bleeds • Soft tissue haemorrhages – common, may cause complications, incl compartment syndrome + neurological damage • Haematoma formation – spontaneously or following trauma, may require fasciotomy • Increased pressure can lead to compartment syndrome or nerve palsies Haemophilia B All of the above and • GI + mucosal haemorrhage – haematemesis, melaena, frank red blood per rectum, abdominal pain • Microscopic haematuria or gross bleeding into the urinary tract • Epistaxis, haemorrhage into the oral mucosa, haemoptysis, dyspnoea from a hematoma obstructing the airway, compartment symptoms, contusions • Haematomas in muscles • Hemarthrosis in joints • Musculoskeletal problems – warmth, pain, stiffness, refusal to use a joint due to muscle haematoma or hemarthrosis

Question 112

Encephalitis symptoms and signs

Answer 112

• Acute onset febrile illness • Altered mental status o Ranges from mild somnolence to coma o Cognitive dysfunction with acute memory disturbances + psychiatric + behavioural manifestations o Withdrawal, apathy, abulia, akinetic mutism, personality changes, psychotic behaviour, disorientation, hallucinations • Headache • Seizures o Generalised tonic-clonic seizures + focal seizures +/- secondary generalisation • Focal neurological signs o Aphasia, haemianopia, hemiparesis, ataxia, brisk tendon teflexes, Babinski’s sign, CN deficits • Rash o Vesicular eruption – enterovirus, HSV, VZV o Maculopapular eruption – EBV after treatment with ampicillin, measles, HHV-6, west nile virus o Erythema migrants – Lyme disease o Erythema nodosum – TB, histoplasmosis, sarcoidosis o Erythema multiforme – HSV, mycoplasma • Meningismus in some patients

Question 113

Seborrheic dermatitis signs and symptoms

Answer 113

• Infants o Appears between the 3rd and 8th week (within the first 6 weeks) o Progresses to thick yellow adherent layer o Usually resolves by 6-12m o Most commonly affects the scalp (known as cradle cap) – yellow-brown scales, large, greasy o Face, ears, neck, nappy area can also be involved – smaller, whiter, rash appears as well-defined areas of erythema and scaling with tiny vesicles o Scalp + flexures – confluent eruption, in other places rash starts as small round and oval areas which extend to form patterns o Some cases of nappy rash are thought to be associated with seborrheic dermatitis o Infant is well o Mild itching – sleep unaffected o Starts on scalp, spreads to the face, flexures, nappy area • Symmetrical • Usually one or two body areas are affected but signs may be more widespread • Typically presents as erythematous patches with scale o Well defined patches of erythema associated with flaking of the skin o Scales may be white, yellow, oily dry • Dark skin – areas hypo or hyperpigmented compared to surrounding skin • Mild itching • Most commonly affected areas o Scalp  Lesions can range from mild desquamation (dandruff) to thick brownish crusts adherent to skin and hair o Face  Nasolabial folds, glabellar area, eyebrows, behind the ears  Eyelids – red, swollen, flaky o Upper chest and back  Generalized macules + patches that resemble extensive pityriasis rosea o Flexures + skin folds  Maceration + intertigo can develop in skin creases  In large flexures the skin can appear glazed and pink

Question 114

Mongolian blue spot symptoms and signs

Answer 114

* Macular blue-grey non-tender macules present at birth on sacrum + buttocks * Present at birth * Can occur anywhere on the body, most commonly on the buttocks * Absence of tenderness or induration * No change in colour over succeeding days

Question 115

Molloscum contagiosum symptoms and signs

Answer 115

• Lesions – due to replication of virus in infected cells o Flesh coloured or pearly white o Umbilicated papules o Smooth-surfaced o Firm • Location o Children – trunk, flexures, anogenital • Eczema or inflammation can develop around lesions prior to resolution

Question 116

Hemangioma symptoms and signs

Answer 116

Infantile haemangiomas • Appear during the first weeks of life as blue or pink macules or patches  proliferative phase  become elevated above the surrounding skin surfaces • Proliferative phase completed by 5 months • Soft and not fixed • Flat or nodular • Ulceration and bleeding in areas subject to increased friction and trauma • Warm

Question 117

Milia signs and symptoms

Answer 117

* 1-2mm * Infants – Face, eyelids, cheeks, nose, around eyes * Children/ adults – eyelids, checks, forehead, genitalia * May occur elsewhere incl. genitalia * Usually asymptomatic but may be itchy

Question 118

Malaria sx and signs

Answer 118

``` • Recent travel • Fever or hx of fever o >39oC • Sweats, Chills • Headaches • Malaise, lethargy, fatigue, somnolence • Anorexia, GI disturbance, jaundice • Poor feeding • Myalgia + arthralgia • Sore throat, cough, LRT sx, respiratory distress • Confusion • Hepatosplenomegaly ```

Question 119

• Severe complicated malaria in children symptoms and signs

Answer 119

o Cerebral malaria  GCS < 11  BCS <3  Seizures, altered respiration, decorticate/decerebrate posturing  Severe anaemia (pallor)  Respiratory distress or acidosis (acidotic breathing)  Hypoglycaemia <2.2 mmol/L  Prostration (inability to stand or sit)  Parasitaemia >2% RBC parasitized

Question 120

typhoid symptoms and signs

Answer 120

``` • Prolonged febrile illness with normal white blood cell count in returnees from an endemic area • High fever o Step-wise fashion o 5-7 days of daily increments in maximal temperature of 0.5 to 1oC o Height of fever usually occurring in the afternoon • Dull frontal headache o Commonest symptoms besides fever • Rose spots – blanching erythematous maculopapular lesions • Abdominal pain • Anorexia • Apathetic-lethargic state • Constipation • Cough • Diarrhoea • Malaise • Nausea • Prostration ```

Question 121

Dengue fever signs and symptoms

Answer 121

• Fever o Abrupt onset o Very high spikes 39.4-40.5oC o May be biphasic + have a remittent pattern or be low grade o Lasts 5-7d o May cause febrile seizures or delirium in children o Rapid defervescence – may indicate that a pt wis about to enter the critical phase of infection • Skin flushing/rash o Maculopapular or rubelliform rash involving the whole body o 3-4 day of fever o Blanching • Myalgia/ arthralgia/ headache • GI sx

Question 122

Dengue fever WHO group A B C

Answer 122

``` Group A • No warning signs • Able to tolerate an adequate volume of oral fluids • Pass urine at least once every 6h • Near normal blood counts + Hct ``` Group B • Developing warning signs – abdominal pain/tenderness, persistent vomiting, clinical fluid accumulation, mucosal bleed, lethargy/restlessness, liver enlargement >2cm • Co-existing RF for serious infections – pregnancy, extremes of age, obesity, DM, renal impairment, haemolytic diseases • Poor family or social support •  Hct • Rapidly  plt count Group C • Plasma leakage (+/- shock) • Severe haemorrhage • Severe organ impairment – heaptic/renal, encephalopathy, encephalitis, cardiomyopathy

Question 123

Signs of shock (more likely to be present in meningococcal septicaemia rather than meningococcal meningitis)

Answer 123

* CRT >2s * Unusual skin colour * Tachycardia +/or hypotension * Respiratory sx or breathing difficulty * Leg pain * Cold hands/feet * Toxic/ moribund state * Altered mental state/ decreased level of consciousness * Poor urine output

Question 124

Crohn's disease signs and symptoms

Answer 124

• R sided abdo pain • Abdominal pain/distension/palpable masses • Malaise • Anorexia • Fever • Weight loss • Clubbing • Diarrhoea (may be bloody and become chronic (>6weeks)) • Fluid depletion • Malabsorption • Aphthous ulcers in mouth (+in intestine) • Strictures of the bowel • Perianal skint tags, fistulae, abscesses • Fistulae between the bowel and other compartments/the outer world • Inflammation of the eyes (iritis, episcleritis, scleritis) o Episcleritis may be painless or painful, itching or burning • Inflammation of the joints (arthritis) o <5 large joints, asymmetric, acute, self-limiting o Most common extra-intestinal manifestation of IBD • Inflammation of the skin (erythema nodosum) • Metabolic bone disease – osteopenia, osteoporosis, osteomalacia • Anaemia of chronic disease (due to malabsorption or chronic inflammation) • During exacerbations o Hypotension o Tachycardia o Pyrexia

Question 125

UC symptoms and signs

Answer 125

* Pallor, clubbing, aphthous mouth ulcers * Abdominal distension, tenderness or mass in LLQ * Signs of malnutrition – weight loss, faltering growth, delayed puberty * Extra intestinal manifestations – joints, eyes, liver, skin • L side abdo pain • Painless bloody or mucous diarrhoea – cardinal symptom • Blood/mucus/tenderness on PR examination • Tenesmus and urgency • Colicky abdominal pain before passing stool • Abdominal tenderness/distension/ palpable masses o If abdominal tenderness is associated w abdominal distension  acute admission to the hospital  patient could have a toxic megacolon • Clubbing • Malaise • Fever • Weight loss • Signs of iron deficiency anaemia (anaemia of chronic disease) • Dehydration • Tachycardia • Extra-GI manifestations o Inflammation of joints (arthritis, sacroiliitis) – acute arthropathy affecting large joints o Inflammation of eyes (uveitis, scleritis, episcleritis) o Inflammation of the skin (erythema nodosum, pyoderma gangrenosum) o Aphthous ulcers o Episcleritis • Gross, uniform inflammation with a clear cut off point between the normal and abnormal bowel

Question 126

Inguinal hernia signs and symptoms

Answer 126

* Swelling of the groin * Indirect hernias more prone to cause scrotal pain + cause a dragging sensation * Impulse (increase in swelling) palpable on coughing * May not be possible to see the hernia if it is reduced * If a lump is present, it may be reducible * Usually detected at birth if congenital * In older children can develop gradually or can occur suddenly with an episode of heavy lifting causing “rupture”

Question 127

Umbilical hernia signs and symptoms

Answer 127

• Present since birth • Bulge at the umbilicus • Change in size/tension during movement o Becomes larger or tense when the infant cries or strains • Skin changes o Skin may becomes stretched and appear proboscoid • Easily reducible hernial sac • Generally asympomatic for the child, older children may report intermittent discomfort • Sx of incarceration o May occur rarely o Usually involves small bowel o Vomiting, abdominal pain, constipation o Discomfort o Tender abdominal mass o Urgent surgery

Question 128

ALL symptoms and signs

Answer 128

• Pallor • Fatigue, dizziness, palpitations, dyspnoea • Bruising, ecchymoses, petechiae, epistaxis, menorrhagia • Fever, propensity to infection • Lymphadenopathy – painless, freely movable • Hepatosplenomegaly • Bone pain • Testicular enlargement o Painless + unilateral • Renal enlargement • CNS infiltration o Papilledema, nuchal rigidity, meningismus o CN palsies, focal neurological signs

Question 129

Hodgkin's lymphoma symptoms and signs

Answer 129

• Painless cervical +/or supraclavicular lymphadenopathy o Alcohol induced pain at involved sites o HL tends to spread from one LN chain to another in contiguous fashion • B symptoms – fevers, night sweats, weight loss o Weight loss of >10% of baseline weight in the preceding 6 months • Extensive mediastinal adenopathy o SVC syndrome – dyspnoea, cough, orthopnoea, facial and upper extremity oedema and dilated neck veins o Chest pain • Generalised pruritus • Hepatomegaly +/or splenomegaly • Tonsillar enlargement

Question 130

Shaken baby syndrome

Answer 130

``` • Shaken baby syndrome o Intentional shaking of a child (0-5y) o Triad of sx  Retinal haemorrhages  Subdural haematoma  Encephalopathy ```

Question 131

Neonatal hypoglycaemia symptoms and signs

Answer 131

``` • May be asymptomatic • Autonomic (hypoglycaemia – changes in neural sympathetic discharge) o Jitteriness o Irritable o Tachypnoea o Pallor • Neuroglycopenic o Poor feeding/ sucking o Weak cry o Drowsy o Hypotonia o Seizures • Other features o Apnoea o Hypothermia ```

Question 132

ASD signs and symptoms

Answer 132

* Asymptomatic through infancy + childhood * Presents in adult with exertional dyspnoea * Ejection systolic murmur at ULSE * Fixed splitting of S2

Question 133

VSD signs and sympotms

Answer 133

Most common congenital heart defect in children • L-to-R shunt • Small VSD – Asymptomatic, normal feeding + weight gain • Moderate-to-large VSD – asymptomatic at birth, symptoms appear by 5-6w of age, feeding slows down, weight gain + growth affected, parasternal heave, loud + single S2 • Very large VSD – similar sx but more severe, R-L shunt with cyanosis or Eisenmenger’s syndrome – no murmur

Question 134

PDA signs and symptoms

Answer 134

Normally Closes functionally in 12-18h Anatomically in 2-3w * L-to-R shunt (aorta  pulmonary artery) * Small PDA – asymptomatic * Large PDA – feeding difficulties (poor weight gain/growth), SOB, LRTI, failure to thrive (HF) * Bounding peripheral pulses * Hyperactive precordium * Diastolic machinery murmur in the ULSB/L infraclavicular area

Question 135

TGA sign and symptoms

Answer 135

* R-to-L shunt * Cyanosis shortly after birth * RR * Prominent ventricular impulse * Loud S2 * No murmur

Question 136

TOF symptoms and signs

Answer 136

* R-to-L shunt * Cyanotic episodes/ Tet spells * Clubbing * Poor feeding, SOB, agitation * Dyspnoea after prolonged crying * Low O2 sats. * Older children – squatting to rest whilst exercising, delayed development + puberty, systolic thrill LLS, aortic ejection click, single SE (pulmonary valve closure not heard) * Ejection systolic murmur (PS) ULSE

Question 137

Aortic coarctation symptoms and signs

Answer 137

* Commonly present at 48h when PDA closes * Radio-femoral delay * 2ndary HTN * BP in upper limbs (pink) > BP in legs (blue) * SAH * Poor feeding/ lethargy, CHF, shock Late presentation • Headache, nosebleeds, leg cramps • Lower limb weakness/ cold feet/ neurological sx • ?Physical features of TS – short, webbed neck, large distance bn nipples • Crescendo-decrescendo murmur • Systolic murmur in the L infraclavicular area

Question 138

PS symptom and signs

Answer 138

* Asymptomatic *  HR, RR, WOB * Syncope * Chest pain * Oedema, Ascites * Cyanosis

Question 139

AS signs and symptoms

Answer 139

* Fatigue * Exertional sx – SOB, angina, syncope * HF * Ejection systolic RUSB * Radiated to carotids

Question 140

Roseola infantum (HHV6-HHV7) signs and symptoms

Answer 140

``` • Classic presentation o 9-12m of age o Sudden onset high fever for 3-4 days followed by development of discrete red macules and papules on the trunk • High fever o 40oC o Peaks in early evening o Persists for 3-5 days o Followed by onset of a rash • Rash o Rash appears with resolution of fever o Morbilliform rash o 3-5mm discrete lesions o Asymptomatic Pink-red macules + papules o Commonly begin on the neck + trunk + spread to the extremities • Febrile seizures • Other sx o Diarrhoea o Abdominal pain o Nagayama’s spots – exanthem of red papules on soft palate + uvula o URTIs o Tympanic membrane inflammation ```

Question 141

Characteristics of toxoplasmosis rubella CMV congenital infections

Answer 141

``` Toxoplasmosis 4Cs • Intracranial calcifications (scattered throughout the brain) • Chorioretinitis • Hydrocephalus • Convulsions ``` ``` Rubella • Sensorineural deafness • Congenital cataracts • Congenital heart disease (e.g. PDA) • Purpuric skin lesions • “salt and pepper” chorioretinitis ``` ``` CMV • Sensorineural deafness • Purpuric skin lesions (blueberry muffin rash, thrombocytopenia) • LBW • Microcephaly ``` Most common congenital infection

Question 142

Rubella signs and symptoms

Answer 142

``` • Mild fever >37.2 • Generalised maculopapular rash o Mildly pruritic o May be accentuated by heat • Lymphadenopathy o May precede the onset of rash by up to 1 week • Conjunctivitis ```

Question 143

Nephrotic syndrome - minimal change disease signs and symptoms

Answer 143

``` • Facial or generalised oedema o Supports dx of nephrotic syndrome but is not dx of MCD • Normal BP • Absence of haematuria • Hx of recent viral illness ``` A 5-year-old boy presents with a short history of facial oedema that has now progressed to total body swelling involving the face, abdomen, scrotum, and feet. Other symptoms include nausea, vomiting, and abdominal pain. The parents report that the child had a viral illness with fever a few days before the development of the swelling. On examination, he has facial oedema, ascites, scrotal oedema, and pitting oedema of both legs up to the knees.

Question 144

Glomerulonephritis signs and symptoms

Answer 144

• Haematuria • Oedema • HTN o Due to  GFR together with salt + water retention • Oliguria • Fever if infectious aetiology • Abdominal pain in post-streptococcal FN + HSP • Sore throat o Preceding sx by 1-2w in PSGN o At the same time in IgA nephropathy • Vasculitic picture – anorexia, nausea, malaise, skin rash, arthralgia • If haemoptysis – think anti-GBM (Goodpasture’s syndrome)

Question 145

HUS signs and symptoμs

Answer 145

• Diarrhoea • Incidence of STEC is highest in children <5 years of age o HUS is diagnosed in approximately 15% of children with STEC infections, approx. 5-10 days after the onset of diarrhoea • Classic triad of o MAHA o Thrombocytopenia o AKI • Atypical HUS o Due to defects in one of the complements of the alternative complement pathway o No diarrhoeal prodrome o May be familial and frequently relapses

Question 146

Parvovirus signs and symptoms

Answer 146

• Prodrome – fever, headache, pharyngitis, coryza, abdominal pain o More common in adults – children are mostly asymptomatic o 1 week after exposure + 1-2w prior to onset of exanthema • Slapped cheek appearance o Bright red macular erythema of the bilateral cheeks o Sparing of the nasal ridge + peri-oral areas o • Erythematous macules + papules evolving into lacy reticular erythema o 1-4d after initial facial rash o Predominantly found on extremities o Can also be seen on torso o Lasts for 1-3w, may persist for weeks o May intensify with  body temperature – does not reflect worsening of disease o Occasionally pruritic o • Sx of anaemia • Arthritis – more common in adults