Paediatric syndromes - ultimate challenge - Statistics

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The average score is 2 of 73

Answer Stats

Features	Answer	% Correct
Neuropsychiatric + liver disease presentation due to copper build up [AR, ATP7B gene]	Wilson	100%
TIAs/strokes due to bilateral cerebral arterial disease, particularly in the circle of Willis [sporadic]	moyamoya	50%
cafe-au-lait spots, peripheral nerve sheath tumours, optic glioma, renal artery stenosis [AD]	Neurofibromatosis 1	50%
Dysarthria, abnormal movements, anaemia. Malabsorption, failure to thrive, visual problems including retinitis pigmentosa. Acanthocytes on blood film [AR]	Abetalipoproteinaemia	0%
asymptomatic in children, blue skin/scleral pigmentation, dark urine, later arthritis, vascular heart disease, renal stones, hearing loss [AR]	Alkaptonuria	0%
nephritis + SNHL (high freqnecy) [XL, AD, AR]	Alport	0%
Craniosynastosis + syndactyly + hypertelorism, maxillary hypoplasia + cleft palate [AD]	Apert	0%
spastic paraplegia and developmental delay, raised arginine and urinary orotic acid, can be treated with degzilarginase artificial enzyme [AR]	Arginase 1 deficiency (Arginaemia)	0%
neonatal hyperammonaemia, raised citrulline, raised urinary orotic acid and ASA [AR]	ASL deficiency (Arginosuccinaemic aciduria)	0%
neonatal hyperammonaemia, raised citrulline, raised urinary orotic acid [AR]	ASS deficiency (Citrullinaemia I)	0%
Cerebellar dysfunction (ataxia from age 1-2, progressive deterioration around 8-12) + immunodeficiency (humoral) + later telangectasia [AR]	Ataxia telangectasia	0%
Neonatal hypoglycaemia, macroglossia, hemihypertrophy, anterior abdominal wall defects, embryonal tumours. Frequent feeds + diazoxide to prevent hypos [Sporadic]	Beckwith-Widemann	0%
liver disease, renal tubular acidosis; high total/free carnitine and low C16, 18, 18:1, no dicarboxylic aciduria [AR]	Carnitine palmitoyltransferase I deficiency (CPT I)	0%
cardiomyopathy, liver disease; low total carnitine and no/non-specific dicarboxylic aciduria [AR]	Carnitine palmitoyltransferase II deficiency (CPT II)	0%
severe cardiomyopathy, arrythmias, liver diseasae; low total carnitine, may have dicarboxylic aciduria [AR]	Carnitine translocase deficiency	0%
cardiomyopathy, muscle weakness, liver disease; very low total and free carnitine, no dicarboxylic aciduria [AR]	Carnitine transporter defect	0%
coloboma, heart defects, choanal atresia, developmental delay, genital hyoplasia, absent semicircular canals + VIIIth nerve hypoplasia [AD]	CHARGE	0%
Dysmorphic features, high pitched cry, poor growth, developmental delay [5p deletion]	Cri-du-Chat	0%
Fanconi syndrome (proximal RTA + hypophosphataemia + glucosuria + proteinuria/aminoaciduria), faltering growth, hypophosphataemic rickets, polyuria/polydipsia, photophobia due to corneal accumulation, diabetes, thyroid, and neurological problems [AR, CTNS mutation]	Cystinosis	0%
lysosomal sotrage defect resulting in AA accumulation, Fanconi syndrome (proximal RTA + hypophosphataemia + glucosuria + proteinuria/aminoaciduria), faltering growth, hypophosphataemic rickets, polyuria/polydipsia, photophobia due to corneal accumulation, diabetes, thyroid, and neurological problems [AR, CTNS mutation]	Cystinosis	0%
AA reabsorption defect: renal stones (hexagonal), diagnosed with sodium cyanide nitroprusside test and managed with alkalinisation of urine and penicillamine chellation [AR]	Cystinuria	0%
Congenital nephropathy + Wilm's tumour + intersex	Denys-Drash	0%
Anaemia + short stature + thumb and craniofacial abnormalities - presents in infancy [AD or sporadic, ribosomal genes]	Diamond-Blackfan	0%
conductive hearing loss in up to 80% [Sporadic]	Down	0%
Neuropathic pain esp in the limbs + angiokeratomas + corneal opacities + early strokes + CKD + hypertrophic cardiomyopathy [XR]	Fabry	0%
Pancytopenia + short stature + microcephaly + cafe-au-lait sots + upper limb abnormalities + renal anomalies (e.g. horseshoe kidney) [AR, FA/BRCA pathway mutations]	Fanconi's anaemia	0%
Sphingolipidosis. Pancytopenia, hepatosplenomegaly, joint and bone pain, neurological symptoms, osteoporosis [AR]	Gaucher's	0%
non-syndromic genetic HL [AR, connexin 26 gap junction protein mutations]	GJB2	0%
initially asymptomatic with acute decompensation resulting in encephalopathy, classically bilateral subdurals; part of blood spot [AR]	Glutaric aciduria type 1	0%
hypoglycaemia, hepatomegaly, faltering growth, hyperlipidaemia, myopathy [AR, glycogen debranching enzyme deficiency]	GSD III (Cori's)	0%
coarse facial features, macroglossia, hypotonia, HOCM [AR, alpha-glucosidase deficiency]	GSD II (Pompe)	0%
hepatomegaly and cirrhosis, myopathy, dilated cardiomyopathy [AR, glycogen branching enzyme deficiency]	GSD IV (Andersen's)	0%
severe hypoglycaemia, hepatomegaly, faltering growth, hyperlipidaemia, lactic acidosis, hyperuricaemia [AR, glucose-6-phosphatase deficiency]	GSD I (von Gierke's)	0%
exercise-induced muscle fatigue and cramps, muscle hypertrophy, rhabdomyalysis, NO hepatomegaly or hypoglycaemia [AR, muscle glycogen phosphorylase deficiency]	GSD V (McArdle's)	0%
Arm/hand abnormalities (e.g. forearm deformities) + CHD (e.g. ASD) [AD, TBX5 gene]	Holt-Oram	0%
marfanoid body habitus, eye problems inc lens dislocation, VTE/strokes, learning difficulties, part of blood spot except for a B6-responsive subtype [AR]	Homocystinuria	0%
acidosis with ketosis, raised lactate, hyperammonaemia, neutropenia, part of blood spot [AR]	Isovaleric acidaemia	0%
long QT syndrome + congenital SNHL [AD, KCNQ1/KCNE1 (potassium channels) mutations]	Jervell-Lange-Nielsen	0%
Hemihypertrophy of the bone or soft tissues associated with an overlying port-wine stain. If AVM present then *-Weber syndrome	Klippel-Trenaunay	0%
Progressive neurodegenerative disorder, onset at 2-4 years. Seizures esp myoclonic, visual problems, motor decline.	Late infantile ceroid lipofuscinosis	0%
cariomyopathy, liver disease, hypotonia, neuropathy, retinopathy, late-onset rhabdomyalisis; associated with maternal steatosis or HELLP syndrome; dicarboxyclic aciduria [AR]	LCADD	0%
Oculocerebrorenal dystrophy. Congenital cataracts, glaucoma, bupthalmos. Hypotonia, hyporeflexia. Progressive intellectual disability. Fanconi syndrome. Rickets and pathological fractures [XR]	Lowe	0%
encephalopathy, seizures, cerebral oedema, acidosis with ketosis, raised branch chain amino acids, part of blood spot [AR]	Maple Syrup Urine Disease	0%
Reye-like progressive crisis after 8-16 hours of fasting; hypoketotic hypoglycaemia; dicarboxylic aciduria [AR]	MCADD	0%
Copper metabolism. Progressive neurodegeneration and seizures. Rosy cheeks and friable hair. Low serum copper [XR]	Menke's	0%
acidosis with ketosis, raised lactate, hyperammonaemia, neutropenia, extrapyramidal signs, cardiomyopaty, renal failure, x2 raised organic acids in urine [AR]	Methylmalonic acidaemia	0%
coarse facial features, skeletal abnormalities, joint stiffness, abdominal hernias, developmental delay, cardiac abnormalities [XR, iduronate-2-sulfatase deficiency]	MPS I (Hunter)	0%
coarse facial features, skeletal abnormalities, joint stiffness, abdominal hernias, developmental delay, cardiac abnormalities, cataracts [AR, alpha-L-iduronidase deficiency]	MPS II (Hurler)	0%
neonatal hyperammonaemia, raised glutamine, low citrulline, normal urinary orotic acid, can be managed with carbaglumic acid [AR]	N-acetylglutamate synthase deficiency	0%
vestibular shwannomas [AD]	Neurofibromatosis 2	0%
Sphingolipidosis. Neurological symptoms inc cerebellar and basal ganglia dysfunction, gelastic cataplexy, hepatosplenomegaly [AR]	Niemann-Pick	0%
Hypotonia, lethargy, coma, seizures, choreas [AR]	Non-ketotic hyperglycinaemia	0%
spastic paraplegia and liver dysfunction, raised ornithine, homocitrulline and urinary orotic acid [AR]	Ornithine transporter deficiency (Hyperornithinaemia hyperammonaemia homocitrullinaemia)	0%
neonatal hyperammonaemia, raised glutamine, low citrulline, raised urinary orotic acid [XR]	OTC deficiency	0%
thyroid dysmorphogenesis + congenital SNHL (high freqhency) [AR, SCL26A4 (a chloride/iodide transporter) mutations]	Pendred	0%
posterior fossa malformations, haemangiomas, arterial lesions, cardiac abmormalities e.g. coarctation of the aorta, eye abnormalities, sternal cleft	PHACES	0%
fair skin, microcephaly and progressive cognitive impairment, part of blood spot [AR]	Phenylketonuria	0%
Pulmonary hypoplasia + low set ears, flat nasal bridge + contractures + clubbed feet [various causes of oligohydramnios]	Potter sequence	0%
acidosis with ketosis, raised lactate, hyperammonaemia, neutropenia, extrapyramidal signs, cardiomyopaty, x1 raised organic acid in urine [AR]	Propionic acidaemia	0%
Developmental regression, acquired microcephaly, repetitive hand movements. [XD, MECP2 mutation]	Rett	0%
Autonomic dysfunction (poor suck/swallow, temperature regulation, vomiting) + peripheral sensory neuropathy + decreased taste due to absence of fungiform papillae + absence of tears [AR]	Riley-Day	0%
Developmental abnormality of midline brain structures. Optic nerve hypoplasia (-> congenital blindness), hypopituitarism, absent septum pellucidum. Roving eye movements in infant (rotatory nystagmus).	Septo-optic dysplasia	0%
Pancytopenia + pancreatic insufficiency + skeletal abnormalities + hepatomegaly [AR, SBDS mutation - ribosome abnormality]	Shwachman-Diamond	0%
port-wine stain, LD, seizures, hemiparesis, glaucoma [Sporadic]	Sturge-Weber	0%
Gangliosidosis. Progressive neurological condition. Motor regression, siezures, hearing loss. Retinal red spot. More common in Ashkenazi Jewish, Old Order Amish, Quebec French Canadian communities [AR, HEXA mutation]	Tay-Sachs	0%
Thrombocytoenia (-> haemorrhagic complications in the newborn) + absent radii + facial dysmorphism + lower limb anomalies + cow's milk intolerance [AR, RBM8A]	Thrombocytopenia absent radii (TAR)	0%
ash leaf macules, Shagreen patches, LD, epilepsy inc infantile spasms, cardiac rhabdomyomas, renal angiomyolipomas [AD]	Tuberous sclerosis	0%
hepatic and renal failure [AR]	Tyrosinaemia	0%
retinal dystrophy + SNHL [AR]	Usher	0%
cardiomyopathy, liver disease, hepatomegaly, sudden death in infancy, late-onset rhabdomyalisis [AR]	VLCADD	0%
tumour suppressor gene mutation -> visceral cysts + tumours. Retinal, cerebellar, spinal haemangioblastomas, renal cell carcinoma, phaeochromocytoma, pancreatic tumours [AD]	Von Hippel-Lindau	0%
pigmentary anomalies of hair/skin/eyes + HL [AD]	Waardenburg	0%
Eczema + immunodeficiency + thrombocytopenia [XR]	Wiskott-Aldrich	0%

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