Ophthalmoplegic Neurolipidosis - Storage Cells in Heterocygotes

U. Frank; U. Lasson

doi:10.1055/s-2008-1052535

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Neuropediatrics 1985; 16(1): 3-5
DOI: 10.1055/s-2008-1052535

ORIGINAL ARTICLES

Ophthalmoplegic Neurolipidosis - Storage Cells in Heterocygotes

U. Frank¹ , U. Lasson²

¹Neuropediatric Department, University of Kiel, Schwanenweg 20, D-2300 Kiel, Federal Republic of Germany
²Pediatric Department, University of Kiel, Schwanenweg 20, D-2300 Kiel, Federal Republic of Germany

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Publication History

Publication Date:
30 April 2008 (online)

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Abstract

We describe two children with ophthalmoplegic neurolipidosis. Bone marrow specimens of the patients and their healthy relatives disclose typical storage cells. The literature is reviewed. The storage cells in healthy relatives are interpreted as a sign of heterocygosity.

Key words

Neurolipidosis - Storage disease - Heterocygotes

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