PEDIATRICS Vol. 81 No. 4 April 1988, pp. 602-603
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Clinical Spectrum of Mucolipidosis Type IV

NAOMI AMIR MD1, JOEL ZLOTOGORA MD2, and GIDEON BACH PhD2

1 Florence Miller Neuropediatric Diagnostic Unit, Bikur Holim Hospital, Jerusalem, Israel
2 Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel

In Reply.—

Drs Weitz and Kohn refer to a 15-month-old boy with moderate generalized hypotonia and elevated muscle enzyme levels in which the opportunistic finding of corneal opacities led to the diagnosis of mucolipidosis type IV. Although they provided no information about the visual behavior or psychosocial developmental level of the patient, they conclude that clinical evidence of muscle disease may be the presenting sign of mucolipidosis type IV. They refer to the article by Zlotogora et al (Neuropediatrics 1983;14:104-105) who reported a child whose profound global retardation began to be evident in infancy and the muscle disorder was clearly part of an extensive CNS disease.