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Niemann-Pick type C disease associated with peripheral neuropathy
Dimitrios I Zafeiriou1, Panagiota Triantafyllou, Nikolaos P Gombakis
1First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Pediatric Neurology
|November 25, 2003
Summary
Niemann-Pick type C disease, a rare inherited disorder, involves cholesterol metabolism issues. This case highlights a child with cognitive and motor decline, plus rare peripheral neuropathy, confirming the disease.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Niemann-Pick type C (NPC) disease is an autosomal-recessive neurovisceral disorder caused by NPC1 or HE1 protein deficiency.
- It disrupts cholesterol metabolism, leading to symptoms like hepatosplenomegaly, ataxia, and dementia.
Observation:
- A 3 1/2-year-old patient exhibited cognitive and motor regression, speech changes, and gait disturbances.
- Clinical findings included hepatosplenomegaly, ataxia, vertical gaze palsy, and mild demyelinating peripheral neuropathy.
Findings:
- Bone marrow examination revealed foam cells.
- Cholesterol esterification studies showed massive unesterified cholesterol accumulation and impaired exogenous cholesterol processing.
Implications:
- The findings confirm Niemann-Pick type C disease in the patient.
- Peripheral neuropathy, though rare, is identified as a contributing factor to neurological deterioration in NPC disease.