Pick disease

An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.

Disease Alternative Name

sphingomyelin/cholesterol lipidosis

niemann-pick disease

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Recent Cases of Pick disease

Browse recently discussed Pick disease cases by specialists

Concluded Case

Bhavya Arora

MBBS Student

NEONATAL CHOLESTASIS 1) Bile duct obstruction Extrahepatic biliary atresia 2) Neonatal infection Cytomegalovirus Bacterial sepsis Urinary tract infection Syphilis 3) Toxic Drugs Parenteral nutrition 4) Genetic disorders Tyrosinemia Ne...See More

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Concluded answer

Bhavya Arora

MBBS Student

Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis

Concluded Case

Dr. Bhimjibhai Aghara

General Practice

For which of the following diseases the enzyme replacement therapy is available? A Albinism B Niemann-pick disease C Metachromatic leukodystrophy D Gaucher disease

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Dr. Bhimjibhai Aghara

General Practice

D is the correct answer