About The Medical Condition Niemann-Pick Disease Type B

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Find the definition of the medical term Niemann-Pick Disease Type B. Niemann-Pick Disease Type B defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Niemann-Pick Disease Type B

Niemann-Pick Disease Type B Medical Condition Defined & Explained
Niemann-Pick Disease Type B Medical Condition

What's The Definition Of The Medical Condition Niemann-Pick Disease Type B?

A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)

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