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. 1991 Dec 1;41(3):313-8.
doi: 10.1002/ajmg.1320410310.

Mucolipidosis type IV: clinical manifestations and natural history

D Chitayat  1 , C M Meunier, K A Hodgkinson, K Silver, M Flanders, I J Anderson, J M Little, D A Whiteman, S Carpenter
Affiliations

Mucolipidosis type IV: clinical manifestations and natural history

D Chitayat et al. Am J Med Genet. .

Abstract

The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.

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