Article
Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomas.
Neurology - 1 Sept 1992
Filling-Katz M R, Miller S P, Merrick H F, Travis W D, Gregg R E, Tsokos M, Comly M, Kaneski C R, Mackie S, Lebovics R S
Abstract excerpt
We describe the unique clinical and histopathologic features of a child with biochemical and immunocytochemical features of Niemann-Pick disease type C (NPC). Clinically, she was found to have multiple xanthomas of the upper aerodigestive tract with dysphagia and expressive language delay, splenomegaly, bony infarcts, and type IIb hyperlipidemia. Neurologic examination was otherwise normal. Microscopy revealed...
Topics
- Biopsy
- Child, Preschool
- Cholesterol
- Female
- Humans
- Hyperlipidemias
- Niemann-Pick Diseases
- Phenotype
- Xanthogranuloma, Juvenile