Article

Mucolipidosis type IV: Clinical manifestations and natural history

Department of Pediatrics, Montreal Childrens Hospital, Quebec, Canada.
American Journal of Medical Genetics (Impact Factor: 3.23). 12/1991; 41(3):313-8. DOI: 10.1002/ajmg.1320410310
Source: PubMed

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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