Developmental and hereditary disorders

Question 1

what would be seen with a man that has fragile X

a woman?

Answer 1

hyperextensible joints and prominent thumbs, large ears, high arched palate, hypotelorism and large testes

women with fragile X appear quite normal, mild retardation in 50% of cases

Question 2

what deficiencies are associated with: Tay Sachs, Gaucher, Metachromic Leukodystrophy

Answer 2

hexosaminidase

Glucocerebrosidase

Arylssulfatase A

Question 3

What happens in hartnup disease?

Answer 3

intestinal malabsorption of Tryptophan which is precoursor for nicotinamide (auto rec)

pt develops scaly erythematous rash on face (similar to pellagra) as well as ataxia

Question 4

rail-road track pattern of cerebral calcifications is indicative of what disease?

Answer 4

Sturge-Weber

Question 5

eryhtrocytosis with cerebellar signs, microscopic hematuria and hepatosplenomegaly suggests ?

hint: characterized by PKD and retinal angiomas as well as cerebellar tumors

Answer 5

Von Hippel-Lindau

Question 6

Abetalipoproteinemia results in what symptoms?

what supplement may retard the progression?

Answer 6

loss position sense, looks similar to friederichs, results in degeneration of spinocerebellar tract (posterior column)

VitE

Question 7

what is the inheritance pattern of tuberous sclerosis?

Answer 7

Auto Dom

Question 8

Adenoma sebaceum of the face is especially common with what disease?

Answer 8

tuberous sclerosis

Question 9

What retinal problem occurs with tuberous sclerosis?

Answer 9

retinal phakomas (gliomatous tumors)

virtually pathognomonic forTS along with ademona sebaceum and pariventricular tubers

Question 10

calcifications on Xray or CT of pt with tuberous sclerosis indicate what?

Answer 10

subependymal glial nodules

Question 11

EEG of tuberous sclerosis baby with infantile spasms shows hypsarryhthmia, what is tx?

Answer 11

tuberous sclerosis

give ACTH

Question 12

does brain injury progress with CP?

Answer 12

no, CP is a static encephalopathy and while brian damage does not progress the deficits may evolve

Question 13

what percent of patients with tuberous sclerosis are retarded?

Answer 13

65%

Question 14

difference between type 1 chiari and type 2

Answer 14

1- adult - tonsils below foramen magnum

2- symptomatic at birth or in infancy may produce hydrocephalus with retardation