Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature.
Examination of two siblings who had histories of progressive decline in speech, intelligence, and coordination disclosed vertical supranuclear ophthalmoplegia, hepatosplenomegaly, and signs of diffuse CNS dysfunction. Niemann-Pick "foam cells" were found in the bone marrow of both patients. The features of these cases correlate in appearance and clinical findings with those of 21 other previously reported cases, which are reviewed in this article. Knowledge of the clinical manifestations of this particular variety of Niemann-Pick disease should aid in its earlier diagnosis.
D000328:Adult; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009886:Ophthalmoplegia / Q000209:etiology* / Q000235:genetics