Child Neurology

Question 0

What test would you order to separate muchopolysaccharidosis from oligosaccharidosid

Answer 0

Abnormal urinary oligosaccharide excretion

Question 1

What would you expect on exam with a child with muchopolysaccharidosis

Answer 1

Evidence of enlarged non-neural tissue including bone supra orbital ridging tongue and liver. sometimes referred to as Hurler phenotype presence of such enlargement is highly indicative of lysosomal storage disorder and more specifically one of the mucopolysaccharidoses

Question 2

What is glucose one transport deficiency

Answer 2

Due to a A mutation in SLC2A1 region on chromosome one. This leads to an inability to efficiently transport glucose to cross the blood brain barrier.The Hallmark winding is a low cerebral spinal fluid glucose levelwith a CSF/blood glucose ratio of less than 0.4. Typical presentation is seizures before age to variance include intermittent dystonia, choreoathetosis and ataxia

Question 3

What is the treatment for glucose one transport deficiency

Answer 3

Ketogenic diet

Question 4

How does arginase deficiency present

Answer 4

Differently than other urea cycle disorders. Onset of progressive spastic paraplegia, intellectual deterioration, and hyperactivity

Question 5

What do you know about the dopa/responsive dystonia

Answer 5

Caused by mutations in GTP cyclohydrolase presents with dystonic spasms, commonly isolated to the legs initially and leading to a gate pattern that may mimic that scene and cerebral palsy. Two thirds of the case manifest with a diaper Arnold variation with progressive worsening over the course of the day

Question 6

What is Rett syndrome

Answer 6

X – linked dominant syndrome typically seen and girls. Clinical manifestations include delayed regression of language abilities and hand stereotypies

Question 7

What mutation is associated with Gaucher disease

Answer 7

GBA

Question 8

What mutation is associated with Rett syndrome

Answer 8

MECP2

Question 9

What is Panayiotopoulos syndrome

Answer 9

The early onset form of childhood benign occipital epilepsy with occipital spikes. This syndrome is characterized by vomiting in 80% of cases nausea retching may occurred during or before the vomiting Pallor is the most frequent autonomic manifestations initial autonomic face can be followed by gays deviation speech arrest and confusion

Question 10

What is Miller-Dieker syndrome

Answer 10

Lissencephaly associated with dysmorphic features including widely spaced eyes, low-set ears and a short upturned nose and polydactyly. Echocardiogram shows small ventricular septal defect and renal ultrasound shows a small left kidney and absent right kidney

Question 11

What is ataxia/telangiactadia

Answer 11

And autosomal recessive condition with childhood onset ataxia ocular motor apraxia choreoathetosis and dystonia and telangiactadia a on the skin and conjunctiva. Immunodeficiency and susceptibility cancer especially lymphoma and leukemia are significant causes of morbidity and mortality.The diagnosis is supported by an elevated Alpha-feta protein level and genetic testing of the ATM Gene is confirmatory diagnosis