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From Bench to Bedside

Raphael Schiffmann, MD

JAMA. 1996;276(7):561-564.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

SELECTED CASES

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 . . . [Full Text PDF of this Article]

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

Footnotes
Reprints: Raphael Schiffmann, MD, National Institutes of Health, Bldg 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260.

Grand Rounds at the Clinical Center of the National Institutes of Health section editors: John I. Gallin, MD, the Clinical Center of the National Institutes of Health, Bethesda, Md; David S. Cooper, MD, Contributing Editor, JAMA.

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