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Juvenile Niemann-Pick Disease With Vertical Supranuclear OphthalmoplegiaTwo Case Reports and Review of the Literature
Lenore Breen, MD;
Harold H. Morris, MD;
Jack B. Alperin, MD;
Sydney S. Schochet, Jr, MD
Arch Neurol. 1981;38(6):388-390.
Abstract
• 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.
Author Affiliations
From the Departments of Neurology (Drs Breen and Morris), Internal Medicine (Dr Alperin), and Pathology (Dr Schochet), The University of Texas Medical Branch, Galveston, Tex.
Footnotes
Accepted for publication Aug 6, 1980.
Dr Schochet is now associated with the Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City.
Reprint requests to Department of Neurology, The University of Texas Medical Branch, Galveston, TX 77550 (Dr Morris).
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