Am J Med Genet. 1991 Dec 1;41(3):313-8.

Mucolipidosis type IV: clinical manifestations and natural history.

Chitayat D, Meunier CM, Hodgkinson KA, Silver K, Flanders M, Anderson IJ, Little JM, Whiteman DA, Carpenter S.

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Department of Pediatrics, Montreal Childrens Hospital, Quebec, Canada.

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.

PMID:: 1789285; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

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