Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two case reports and review of the literature

L. Breen, H. H. Morris, J. B. Alperin, S. S. Schochet

Research output: Contribution to journalArticle

27 Citations (Scopus)

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 CSN 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
StatePublished - 1981

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Niemann-Pick Diseases
Ophthalmoplegia
Foam Cells
Intelligence
Siblings
Early Diagnosis
Bone Marrow

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two case reports and review of the literature. / Breen, L.; Morris, H. H.; Alperin, J. B.; Schochet, S. S.

In: Archives of Neurology, Vol. 38, No. 6, 1981, p. 388-390.

Research output: Contribution to journalArticle

Breen, L. ; Morris, H. H. ; Alperin, J. B. ; Schochet, S. S. / Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two case reports and review of the literature. In: Archives of Neurology. 1981 ; Vol. 38, No. 6. pp. 388-390.
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