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Murray Feingold, MD

Am J Dis Child. 1983;137(9):907-908.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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. . . . [Full Text PDF of this Article]

Author Affiliations
Contributed from the New England Medical Center Hospital, Boston.

Footnotes
Reprint requests to Boston Floating Hospital, 171 Harrison Ave, Boston, MA 02111 (Dr Feingold).

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