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

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Concluded Case

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

Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis


Top Pick disease Doctors on Curofy

Top doctors who continously share their opinions on Pick disease
Gurgaon
387 followers
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Itahar BPHC

Medical Officer

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MBBS

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Speaks Bengali, English, Hindi
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Eye Care & Research Centre, Kolkata for About 25 Years

Consultant

Eye Care & Research Centre, Kolkata

MS, DO

User Languages
Speaks Bengali, English, Hindi
Surat
907 followers

Super Specialist in Reproductive Endocrinology

User Languages
Speaks English
Medical Lab Director, PMNH, Jazan KSA
1046 followers

Prince Mohammed Bin Nasser Specialist Hospital

Pathologist, Medical Lab Director

Rangaraya Medical College, NTR UHS

MD (Pathology)

User Languages
Speaks English, Hindi, Telugu