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

RAPHAEL WEITZ MD1 and GERTRUDE KOHN MD2

1 Pediatric Neurology Unit, Beilinson Medical Center Petah Tiqva, Israel 49100
2 Division of Medical Genetics, Beilinson Medical Center. Petah Tiqva, Israel 49100

To the Editor.—

We read with interest the presentation by Amir et al1 concerning the clinical spectrum and natural history of mucolipidosis type IV. Based on their experience with 20 patients, they try to provide guidelines for the clinical diagnosis of this lysosomal storage disease. It appears that severe visual impairment (due mainly to corneal opacities, myopia, and retinal degeneration) and psychomotor retardation are the cardinal features of this entity.

However, corneal clouding and mild motor delay in their early stages may frequently be missed by even experienced pediatricians and we recently examined a 15-month-old boy who was referred to us for evaluation of a possible congenital myopathy.