Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly.
A 39-year-old female presented to the Bryan Memory Disorders Clinic at Duke University with a 7-year history of an atypical progressive dementia, mildly impaired vertical gaze, dysarthria and mild ataxia. There was no evidence of organomegaly by clinical examination or by radionuclide liver/spleen scan. Brain biopsy disclosed a neuronal storage disorder characterized by ballooned neurons filled with oligo-lamellar cytosomes and lipid droplets. Cultured skin fibroblasts had diminished sphingomyelinase activity and impaired cholesterol esterification, although peripheral leukocyte sphingomyelinase activity was normal. Two years after biopsy, follow-up examination revealed marked progression of vertical gaze paralysis and ataxia. This case expands the clinical spectrum of Niemann-Pick disease type C by presenting in adulthood with subtle neurologic abnormalities; no visceromegaly and profound dementia.
Hulette
C M
CM
Department of Pathology (Neuropathology), Duke University Medical Center, Durham, North Carolina 27710.
Earl
N L
NL
Anthony
D C
DC
Crain
B J
BJ
D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006529:Hepatomegaly / Q000473:pathology; D006801:Humans; D050356:Lipid Metabolism; D008854:Microscopy, Electron; D009474:Neurons / Q000473:pathology; D009483:Neuropsychological Tests; D009542:Niemann-Pick Diseases / Q000473:pathology*; D012867:Skin / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D013163:Splenomegaly / Q000473:pathology; D013702:Temporal Lobe / Q000473:pathology
D013108:Sphingomyelin Phosphodiesterase