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| Testimonials For Pediatric Oncall |
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Preeti
I am a final yr medical student and i just love ur website!!! I regularly use it to help me with my preparations. The topics are so lucidly written and easily understood with up to date information.. Even the HIV related web site ( www.hivinchildren.org) by Dr.Ira Shah is just fabulous!!! |
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Dr Parang N Mehta
Dear Dr Ira Shah, Congratulations on putting up an excellent website, which will be of great use to practicing pediatricians everywhere. You have achieved the near impossible in getting some of the biggest names in pediatrics in India to contribute content to your site. |
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| Sailala
An excellent website!! good and useful information! Many Thanks for to u all! |
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Sujatha
Very informative site, and queries are getting resolved immediately. Thanks |
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Uttam Laisram
I found the Vaccine Reminder feature on your Website very interesting. My request is that this useful facility may not be restricted to Registered Users, but may be made available to all Visitors, who may like to enter their child's details and take a print-out of the Vaccine schedule. Please consider. Keep up the excellent work in providing India-relevant information for child care. |
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Dr Ira Shah
M.D, DNB, DCH(Gold Medalist), FCPS
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Niemann Pick Disease (NPD) is a lipid storage disorder that results from deficiency of the enzyme-acid sphingomyelinase. Two major types – A & B have been described. This enzymatic defect leads to accumulation of sphingomyelin in the monocytes, reticulo endothelial system and in type A even in the central nervous system. Thus patients present with progressive lung disease, hepatosplenomegaly, short stature and pancytopenia.
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Niemann Pick Disease type A is usually fatal in childhood and patients may have prolonged jaundice at birth followed by hepatosplenomegaly, lymphadenopathy, psychomotor retardation and pancytopenia over a period of time as was seen in our patient. In later stages, spasticity and rigidity may be seen. Patients usually have a cherry-red spot on the fundus on ophthalmic examination.
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Niemann Pick Disease type B leads to a variable clinical presentation. Most patients present with hepatosplenomegaly in infancy or childhood which becomes less conspicuous as age increases. Patients have pulmonary involvement in form of diffuse reticular or finely nodular involvement and life-threatening bronchopneumonia can occur. Hypersplenism can lead to pancytopenia. In type B disease, cherry-red spot is seen only occasionally. Neurological involvement is rare and may rarely lead to peripheral neuropathy and learning disability. Growth retardation may lead to short stature in adult life.
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Diagnosis of Niemann Pick Disease is by histopath finding of Niemann Pick cells on bone marrow examination. Diagnosis is confirmed by measurement of sphingomyelinase enzyme on cultured fibroblasts.
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Niemann Pick type A disease is usually fatal in childhood whereas prognosis for type B disease is variable. Treatment is supportive. Prenatal diagnosis with amniocentesis or chorionic villus sampling is available.
Last Updated on 11-08-2007
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