September 1983

Picture of the Month

Author Affiliations

Contributed from the New England Medical Center Hospital, Boston.

Am J Dis Child. 1983;137(9):907-908. doi:10.1001/archpedi.1983.02140350081020

Denouement and Discussion 

Mucolipidosis I 

Manifestations  Major manifestations include a coarse facial appearance, cloudy cornea, hepatosplenomegaly, joint limitation, dysostosis multiplex, and developmental delay. The following features are also present: a broad nasal bridge; prominent cheeks, lips, and philtrum; epicanthal folds; cherry red macula; and gingival hypertrophy. The neck is short but not broad or webbed. The heart may be enlarged, and the abdomen is prominent. An umbilical hernia is almost always present, and the liver and spleen are greatly enlarged. The trunk is short, resulting in short stature. Kyphosis is a common finding. Central nervous system involvement includes mild to moderate developmental delay that may be progressive, seizures, hypotonia, ataxia, nystagmus, and decreased nerve conduction times. Most of the patients have some degree of hearing loss.Roentgenograms show mild findings of dysostosis multiplex, including beaking of the vertebrae, wide ribs, poorly defined acetabula, and shortening of the ileum.