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Old 09-19-2011
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Neuro Neurodegenerative disease and cherry red spot!

Parents bring in their 8 month old child presenting with neurodegeneration, developmental delay, cherry-red spot on the macula, and hepatosplenomegaly. Which of the following diseases does the child most likely have?
A. Krabbe's Disease
B. Niemann-Pick Disease Type B
C. Niemann-Pick Disease Type A
D. Tay-Sachs Disease
E. Gaucher's Disease
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  #2  
Old 09-19-2011
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Nimann Pick disease type B
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Old 09-19-2011
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D. Tay-Sachs Disease
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Old 09-19-2011
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D. Tay sachs dz
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Old 09-23-2011
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it is niemann pick type a
Niemann-Pick Type A disease is a severe neurodegenerative disorder of infancy. By six months of age, affected babies experience feeding difficulty, recurrent vomiting and enlargement of the spleen and liver, which causes the abdomen to appear distended. Some children with the disease have a "cherry-red spot" in the retina of the eye. Death usually occurs between age 2-4. One in 75 Ashkenazi Jews are carriers of Neimann-Pick Type A disease.
Symptoms:
  • Abdominal distention
  • Coordination and motor-skill difficulties
  • Feeding problems
  • Progressive spasticity
  • Blindness
  • Enlarged liver, and\or spleen
  • A cherry red spot in the eye, visible by special eye exam.
  • May also present with jaundice in infancy and progressive liver failure
  • Usually a baby with Niemann-Pick Type A Disease dies by the second year of life
Cause: Niemann-Pick disease is inherited in an autosomal recessive manner. When both parents are carriers of the gene mutations, there is a 1 in 4 (25%) chance in each pregnancy to have an affected child. The specific biochemical defect in Type A Niemann-Pick disease is the deficiency of an enzyme, sphingomyelinase (ASM), which normally degrades a fatty substance known as sphingomyelin. The enzyme defect leads to the accumulation of sphingomyelin, primarily in the liver, spleen, lymph nodes, and brain.
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Old 09-23-2011
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Thanks I thought it's "B"
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Old 09-26-2011
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Quote:
Originally Posted by rah_mem View Post
thnx i thought its "B"
And whats the difference betwen type A & B ? If you can write down..please
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Old 09-26-2011
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bro i've never come acrossd this type of option in any bank .....
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Originally Posted by montre View Post
And whats the difference betwen type A & B ? If you can write down..please
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Old 09-26-2011
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Quote:
Originally Posted by rah_mem View Post
bro i've never come acrossd this type of option in any bank .....
In brief...In NPA, the clinical affects are apparent at an early stage of life and an affected child will usually die before reaching 5 years of age. The main feature of this disease type is the severe affect on the brain.

NPB appears quite different, with most children reaching maturity and adulthood, although not without experiencing health problems. There are some reported problems with the brain in some cases, but these are few.
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Old 09-26-2011
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As soon as i see the question, i narrow it to 2, and to take out one of the other, was to think on the Hepatosplenomegaly.

For those who answer Tay sachs, a quick way to take out from the answer choice is not cause HepatoSplenomegaly... =)

Niemann pick does.


Yes, answer is Niemann Pick.

Hope it helps.
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