Niemann-Pick Disease

Niemann-Pick disease (NPD) types A/B are acid sphingomyelinase deficiency causing sphingomyelin accumulation; type C is a cholesterol-trafficking defect. Type A (infantile): hepatosplenomegaly, progressive neurodegeneration, cherry-red macula, early death. Type B: hepatosplenomegaly/lung disease, no neurologic. Type C: ataxia/dystopia/dementia later in childhood. Treatment: supportive; enzyme replacement for some; miglustat for type C.

Common Symptoms

Hepatosplenomegaly; neurodegeneration; cherry-red macula; interstitial lung disease; ataxia/dystonia (type C)

Causes and Pathogenesis

Sphingomyelinase deficiency (A/B) or NPC1/NPC2 cholesterol-trafficking defect causes sphingomyelin/cholesterol accumulation in neurons/reticuloendothelial system.

Treatment

Supportive care; miglustat for type C; enzyme-replacement trials; symptomatic neurologic/pulmonary care

Preventive Measures

Genetic counseling; carrier screening; supportive multidisciplinary care.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.