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August 21, 1996

Niemann-Pick Disease Type C: From Bench to Bedside

Author Affiliations

From the Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md.

JAMA. 1996;276(7):561-564. doi:10.1001/jama.1996.03540070057031


Patient 1  A full-term girl was born after normal pregnancy and delivery. Starting in the first few days of life, she developed prolonged neonatal jaundice with hepatosplenomegaly. Total bilirubin level was 92 μmol/L (5.4 mg/dL) at 10 weeks of age. The direct fraction was 52 μmol/L (2.9 mg/dL). By 10 months of age, the jaundice resolved. Because of persistent organomegaly, a liver biopsy was performed that showed cirrhosis with clusters of foam cells containing periodic acid—Schiff—positive material. Electron microscopy revealed amorphous laminated lysosomal inclusions in hepatocytes and in Kupffer cells. Subsequently, her spleen remained moderately enlarged and her liver was mildly enlarged with normal function. By 2 years of age, she was noted to have paresis of voluntary upgaze saccades (vertical supranuclear gaze palsy) and dystonic posture of both feet. When examined at 3 years of age at the National Institutes of Health, she had normal head circumference