What primitive reflex has just been demonstrated? MorosName 2 things you need to consider if the reflex is asymetrical? Nerve injury, fractureWhen should this reflex disappear and what are the implications if it persists beyond that age? 6 mths, cerebral palsyName 3 other primitive reflexes. ATNR, palmar grasp, plantar grasp, stepping reflex, rooting

Describe the abnormalities. Absent thumb, absent radius, radial displacement of handsGive some differential diagnoses.Holt-Oram, Fanconi Anaemia, VATER, TAR SyndromeThis child came to CE and you heard a cardiac murmur with a fixed split of S2. What is the diagnosis? Holt-Oram with ASDWhat is the inheritance? AD

You see this chatty 5 year old boy in CE and his mother tells you that he attends a special school. The mother is worried because her GP said that he heard a murmur when examining her son. She comes to you for evaluation.

Describe what you see. Elfin facies, blue eyes, wide set puffy eyes, thick lips, pointed chin, friendly

What is your diagnosis? Williams SyndromeWhat would you expect to find in your CVS examination and what is the murmur likely due to? Ejection systolic murmur loudest at RUSE and radiating up to carotids, Supra-valvular ASWhat are the associated features? Medial eyebrow flare, stellate calcification of iris, microcephaly, learning difficulties, hypoplastic nails, renal artery stenosis, hypercalcaemia

Williams syndromeWeight LBW, FTTIris StellateLoud hyperacusis, cocktail party speechLarge - mouthIncreased CalciumAortic Stenosis, supra-valvular + other stenoses eg. PSMental retardationSeven chromosome (7q)

Describe what you seeWhat bedside test can you do to confirm the diagnosis?

What is the management?

What is the diagnosis and what is the management?

You are called to see this newborn with vomiting. What is your diagnosis?Management?

This girl presented with a fever and the following rash.Give differential diagnosis Infective endocarditis, vasculitis in autoimmune conditions, meningococcaemia

This 1 year old girl was brought to CE by her Aunty. Her parents are overseas on holiday and this is the first time the aunty is looking after the child. The Aunty is worried because the child suddenly turned blue and unresponsive after crying. She says that the child has a heart condition and says that an operation has been done. On examination you see a small left thoracotomy scar and hear a continuous murmur.

What cardiac condition does the child have? What operation was done? What is the diagnosis?TOF, BT Shunt, TET spellWhile examining the girl, she turns blue and quiet right in front of you. What are you going to do? OxygenKnee to chestDrugs: sodium bicarbonate, propranolol, ketamine, morphine

This is an AXR of a 6 month old baby with vomiting. Describe what you seeWhat are the differential diagnoses?

What is your management?

What is the diagnosis? Juvenile ArthritisName the principles of management Analgesia, control inflammation, physiotherapy/ maintain joint functionDescribe 3 associated featuresUveitis, rash, lymphadenopathy, hepatosplenomegaly, growth failure

Give differential diagnosesPauciarticular JA, haemophilia with haemarthrosis, trauma with effusion, chronic infection e.g TB KneeThe mother now tells you that this has been there for 6 weeks and the child has got early morning joint stiffness. Name a investigation and screening assessment that should be done to aid your diagnosis ANA, Ophthlamology Screening

What is the diagnosis?What is the management?

This child presented with prolonged fever, rash and hepatosplenomegaly.Give 3 differential diagnosesSystemic onset JA, Haematological malignancy, infection (e.g. IMS, CMV)

This child has got chronic joint pain.What are the lesions shown? JA Subcutaneous nodules?Gouty tophi

This 6 year old girl came to CE from Jakarta for a second opinion. She has difficulty climbing stairs and her mother says that a white substance (which she called pus) came out of the knee lesion a week ago.What condition does the child have? DermatomyositisName the lesions on her fingers and name other cutaneous manifestations of this disease. Gottrons papules, heliotrope rash, skin atrophy, vasculitic lesions, calcinosis, nail fold dilated capillaries, butterfly rashName investigations to do. Muscle biopsy, Serum CK, EMG

This child has haematuria and abdominal pain.What is the diagnosis?Give a reason for the haematuria and abdominal pain.What complications to look out for?Follow-up plans?

You see this girl in CE and this is her 3rd reattendance in 1 week for abdominal pain. She was diagnosed as having constipation colic during the last 2 visits. On examination you see the following lesions on her legs which the mother says shes noticed for the last 1 week.What is the diagnosis?What are you going to do next?What medication may help if the pain is persistent?What surgical complication may result?

What is the diagnosis?What is the natural history of this lesion?Describe some treatment options.

What is your diagnosis.How would you treat the child?

This rash appeared after the patient took NSAIDs.What is your diagnosis?What else would you look for in your physical examination?Name other causes for this rash.What treatment is necessary?

This rash developed after antibiotic therapy.What is your diagnosis?Outline general treatment principles.

This 7 year old presented with tender lesions on her shins.What are the lesions?What is the aetiology?

What is your diagnosis? Tinea/ringwormHow would you treat her? Topical antifungals/systemic antifungals if not responsive

This toddlers siblings also have a pruritic rash.What is the diagnosis? ScabiesHow would you manage the child? Antihistamines, malathion, treatment of contacts, wash all clothes and bedlinen

This 16 year old girl presents with this pruritic rash.Describe what you see? burrowWhat is the causative organism? Sarcoptes scabeiHow is it transmitted? Direct contactWhich other areas would you examine. Finger and toe webs, wrists, elbows, ankles, genitalia, breasts

Describe the features of the rash. Scaling, erythema, sparing of creases.What is your diagnosis? Irritant Diaper DermatitisWhat is your treament? Barrier ointment, regular nappy changeWhat must you consider if this rash is intractable and does not respond to treatment? PsoriasisCandidiasis look for satellite lesions

Give 2 differential diagnosis. Seborrrhoeic Diaper Dermatitis, Cadidal Diaper DermatitisWhat would you treat the child with? Combmined hydrocortisone and anti fungal ointment, emmolients

This 14 year old girl presented with secondary ammenorrhoea Describe what you seeLid retraction, goitreWhat is the diagnosis? Graves DiseaseWhat is the treatment? Propanolol to treat symptomsDefinitive treatment with PTU or carbimazole - different regimesMay require thyroidectomy

You see this short 10 year old child in CE. He attends a specia school and he presents with diplopia and carpopedal spasms.What is the cause of his symptoms? Hypocalcaemic tetanyHis spasms are still present and he is distressed. How would you treat him? 10% calcium gluconate

You check his old lab results and see that he has been tested for serum calcium, phosphate and PTH. Do you expect these values to be normal, elevated or decreased? Low Ca, High PO4, High PTHWhat is his diagnosis? Pseudohypoparathyroidism

What is the diagnosis? Cushings SyndromeName some causes. Exogenous Steroids, pituitary adenoma, adrenal adenoma or carcinoma, ectopic ACTH productionHe is not on any medication. Name 3 tests that can be done to aid the diagnosisMidnight blood cortisol level, (low and high dose) dexamethasone supression test, adrenal and pituitary imaging

Cushing Syndrome

This 2 week old baby was brought in to the CE resus room in shock. You find this on examination.Describe 2 abnormal features. Ambiguous genitalia, hyperpigmentationDescribe 3 abnormalities you would expect to find on ME. Low Na, High K, acidosis, hypoglycaemia

This 1 week old baby is brought from Tanjong Pinang. The parents are anxious about the appearance of the external genitalia.What single most important clinical sign must be elicited? Presence or absence of testesWhat is the most common and serious condition to exclude when this is seen and why? CAH due to 21-alpha-hydroxylase deficiency; salt losing crisis

This 6 week old baby boy has just been fed. He has been vomiting for the past 2 days after every feed and is dehydrated.What is shown? Peristaltic waves after a feedWhat is your diagnosis? Pyloric StenosisWhat metabolic picture would you expect the child to have? Hypochloraemic Hypokalemic Metabolic AlkalosisWhat is the definitive treatment? Ramstedts Pyloromyotomy

Name the investigation. Ba EnemaWhat does it show. Tapered transition zoneGive 4 ways how this patient could have presented. Intestinal Obstruction, chronic constipation, delayed passage of meconium, failure to thrive, abdominal distension, enterocolilitsHow can the diagnosis be confirmed? Rectal suction biopsy

This 4 month old boy was lethargic. What is the most likely diagnosis? IntussuseptionWhat procedure is the child undergoing? Reduction with barium enemaBesides barium, what other modalities of reduction can be used?Give 2 indications for surgery. Non-operative reduction fails, perforation/peritonitis

This patient is jaundiced.What is the physical finding? Spider NaevusHow many must you see for it to be significant? More than 3What condition is it associated with? Chronic Liver DiseaseWhat other associated features would you look out for? Clubbing, leukonychia, palmar erythema, gynaecomastia, bruising, parotid swelling, dilated abdominal veins, scratch marks, xanthomata, ascites

Describe 3 abnormalities. Abd distension, dilated abdominal wall vessels, abdominal scarThe child has finger clubbing and has haematemesis. What can explain the current findings? Chronic liver disease with portal hypertensionWhat is the childs underlying condition and what operative procedure has been done? Biliary Atresia, Kasai hepatoportoenterostomy

This 3 year old stays in an old home in the UK. He is being investigated for hypochromic microcytic anaemia. He also has behavioural and communicative problems. He now presents with abdominal pain and an AXR is done.Describe the abnormality. Widespread radio-opaque speckling throughout abdomen likely within bowelHow can you tie everything together into one diagnosis? Lead poisoning, ingestion of lead containing paint chips (pica)

This baby presented to CE for easy bruising and petechiae. The lesion on the face has been present since birth but has been rapidly enlarging. What is the lesion on the face? HaemangiomaWhat complication has arisen (name the syndrome)? Kassabach Merritt SyndromeIf the child is breathless, what else must you suspect? Airway compromiseHigh output cardiac failure

L convergent squint. Asymmetry of corneal light reflex. L lateral rectus palsy.R eye is down and out. R III nerve palsy.

HSP. Complications?Short MCsPTH end-organ resistancePatients with PHP type 1a present with a characteristic phenotype, collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes short stature, stocky habitus, obesity, developmental delay, round face, dental hypoplasia, brachymetacarpals, brachymetatarsals, and soft tissue calcification/ossification