Mucolipidosis type IV: clinical manifestations and natural history.

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.

• Authors: D Chitayat, C M Meunier, K A Hodgkinson, K Silver, M Flanders, I J Anderson, J M Little, D A Whiteman, S Carpenter
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 41 Issue 3 Pg. 313-8 (Dec 01 1991) ISSN: 0148-7299 [Print] United States
• PMID: 1789285 (Publication Type: Journal Article)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Corneal Diseases (genetics, pathology)
• Female
• Genes, Recessive (genetics)
• Humans
• Infant
• Jews (genetics)
• Male
• Mucolipidoses (genetics, pathology)
• Psychomotor Disorders (genetics, pathology)