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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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

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MUMBAI
1085 followers

BARC Hospital

Consulting Surgeon

LTMMC

MS

User Languages
Speaks English, Hindi, Marathi
Surat
1192 followers

Super Specialist in Reproductive Endocrinology

User Languages
Speaks English
kolkata
388 followers

Itahar BPHC

Medical Officer

IPGMER and SSKM

MD Pathology

User Languages
Speaks Bengali, English, Hindi
kolkata
904 followers

Eye Care & Research Centre, Kolkata for About 25 Years

Consultant

Eye Care & Research Centre, Kolkata

MS, DO

User Languages
Speaks Bengali, English, Hindi
Medical Lab Director, PMNH, Jazan KSA
1101 followers

Prince Mohammed Bin Nasser Specialist Hospital

Pathologist, Medical Lab Director

Rangaraya Medical College, NTR UHS

MD (Pathology)

User Languages
Speaks English, Hindi, Telugu

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