hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot
A twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly.
1. The pathology from brain would mostly show which of the following?
A) Area of demyelination of the white matter
B) Atrophy and loss of neurons of caudate nucleus
C) Loss of pigmented neurons of the sunstantia nigra
D) Neurons ballooned with cytoplasmic vacuoles
E) Selective atrophy of anterior frontal and temporal lobe
2. Which of the following is correct regarding the disease?
A) It is an X-linked recessive disorder.
B) Most of the cases die before the age of 4.
C) The genetic problem is associated with deficiency in α-L-iduronidase
D) Accumulation of homogentisic acid in brain is responsible for this disease
E) Mental disabilities are due to accumulation of branched-chain amino acids in the CNS.
3. What is the most likely diagnosis?
A) Niemann-Pick disease
D) Hurler syndrome
F) Maple syrup urine disease
G) Hunter syndrome
H) Lesch-nyhan syndrome
4. Accumulation and deficiency of which of following is responsible for the clinical presentation, respectively?
A) Sphingomyelin, Sphyngomyelinase
B) Heparan sulfate and dermatan sulfate, α-L-iduronidase
C) Homogentisic acid, homogentisic oxidase
D) GM2 ganglioside, Hexosamindase A
E) Heparan sulfate and dermatan sulfate, α-L-iduronosulfate sulfatase
F) Ceramide trihexoside, α-galactosidase A
5. Mutation at which of the following genes is responsible for the clinical presentation?
A) IDUA gene on chromosome 4
B) SMPD1 gene on chromosome 11
C) HEXA gene on chromosome 15
D) Fibrillin (FBN1) gene on chromosome 15
E) NPC1 gene on chromosome 18
F) APKD1 gene on chromosome 16
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