Mucolipidosis type IV: Clinical manifestations and natural history

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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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