Denouement and Discussion
I-Cell Disease (Mucolipidosis II)
I-cell disease (mucolipidosis II) is expressed at birth and has a slowly progressive course and fatal outcome at approximately 4 years of age. Neonatal orthopedic problems such as clubfoot, diaphyseal bending of long bones, or hip dislocation may be the first indications of the disorder. The clinical picture is fully developed by 1 year of age. In boys, inguinal hernia may be noted from birth. Psychomotor retardation is moderate to severe and only a minority of patients learn to walk unaided or achieve more than elementary vocalization. Birth weight is often less than 2,500 gm, and linear growth is below normal from birth and ceases about the age of 1 year. A height of 80 cm is rarely reached. Upper respiratory infections are frequent.The face, suggestive of the Hurler syndrome, presents several typical features: small orbits and prominent eyes; puffy and
Gellis SS, Feingold M, Farriaux J, Walbaum R, Fontaine G, Leroy J. Picture of the Month. Am J Dis Child. 1977;131(10):1137–1138. doi:10.1001/archpedi.1977.02120230083015
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