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A 6 month old girl is seen by her pediatrician for a well baby check up. The mother states that in the past several weeks the child seems to be lethargic, limp, and has trouble controlling her head. Development had been normal up to this point. The physician notes hypotonia and delayed achivement of motor skills. A metabolic disorder is suspected and testing reveals an increased amount of N acetylaspartic acid (NAA) in the urine. What is the most probable diagnosis for this child?
A Canavan disease
B Gaucher disease
C Krabbe disease
D Tay Sachs disease
E X linked adrenoleukodystrophy
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can u give brief explanation plz.
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canavans disease... aspartoacylase.deficiency....
leukodystrophy.... defective myelination progress loss of tone, motor skills.. mental retardation
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Even I never heard of A. before, but my choice is A b/c of process of elimination..LOL
b/c NAA in the urine is not a characteristics of B-E
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Canavan Disease
like Tay-Sachs, is inherited as an autosomal recessive trait & belongs to leukodystrophies, rule out E
In CD, the white matter deteriorates because affected children have a deficiency of the enzyme aspartoacylase, which leads to the accumulation of a chemical, called N-acetyl-aspartic acid (NAA), in the brain.
One of the earliest signs of CD recognized by many parents is overall low muscle tone and lack of head control.
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correct A is the answer.thanx
