Juvenile Niemann-Pick Disease With Vertical Supranuclear Ophthalmoplegia: Two Case Reports and Review of the Literature

Lenore Breen, Harold H. Morris, Jack B. Alperin, Sydney S. Schochet

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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.

Original languageEnglish (US)
Pages (from-to)388-390
Number of pages3
JournalArchives of Neurology
Volume38
Issue number6
DOIs
StatePublished - Jun 1981

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ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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