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Neuropediatrics 1979; 10(4): 321-331
DOI: 10.1055/s-0028-1085335
Original article

© 1979 by Thieme Medical Publishers, Inc.

Mucolipidosis IV

Françoise Goutières, Maria-Leonor Arsenio-Nunes1 , Jean Aicardi1
  • 1Unité 154. Institut National de la Santé et de la Recherche Médicale, Paris
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Publication History

1978

1979

Publication Date:
18 November 2008 (online)

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Abstract

Five new cases of Mucolipidosis IV are related and the seven cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjunctival biopsies for its diagnosis are emphasized. Arguments in favour of a recessive autosomic inheritance are brought forth. The disease does not affect exclusively Jewish people. In two cases absence of oligo-sacchariduria was demonstrated.

Keyword

Mucolipidosis - corneal clouding - progressive encephalopathy