Niemann-Pick disease
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An infant with hepatosplenomegaly has progressive neurological decline. Bone marrow shows "foam cells." Cherry-red spot is present.
- Type A/B: AR; SMPD1 (acid sphingomyelinase)
- Type C: AR; NPC1 or NPC2 (cholesterol trafficking)
- Type A: Infantile neuronopathic, cherry-red spot, hepatosplenomegaly, death by 3 years
- Type B: Non-neuronopathic, hepatosplenomegaly, lung disease
- Type C: Variable onset, vertical supranuclear gaze palsy, ataxia, dementia, hepatosplenomegaly
- Types A/B: low acid sphingomyelinase activity in leukocytes/fibroblasts; confirm with SMPD1 sequencing
- Type C: filipin staining of fibroblasts (impaired cholesterol esterification) plus elevated plasma oxysterols/lysosphingomyelin biomarkers; confirm with NPC1/NPC2 sequencing
- Foam cells (lipid-laden macrophages) on bone marrow; not on standard newborn screening
- Type B (and A): olipudase alfa (recombinant acid sphingomyelinase ERT) for non-neuronopathic manifestations; supportive care
- Type C: miglustat (substrate-reduction therapy) can stabilize neurological progression in some patients
- Supportive: seizure control, nutrition, monitoring for splenic/pulmonary disease; genetic counseling
"Nice sPleen" in Niemann-Pick: hepatosplenomegaly is prominent (vs. Tay-Sachs, which has a Typical/normal Spleen). "NiemMan-Pick has a Massive sPleen."
Cherry red spot group: Tay-Sachs and Niemann-Pick: both have a hyphen ("-") in the name, indicating the cherry red "spot." Both present similarly, but N-P has HSM and T-S does not.
"NPC for Cholesterol": Niemann-Pick type C involves cholesterol trafficking (NPC1/NPC2 genes). "NP-See" has eye movement issues (vertical supranuclear gaze palsy).