Mucolipidoses

This group of autosomal recessive disorders is characterized by the combined storage of mucopolysaccharides and lipids (ML) in tissues and a lack of urinary excretion of mucopolysaccharides.

Type I ML (sialidosis I) affects chiefly juveniles and presents with cherry red spot at the macula, seizures, and myoclonic jerks.

Type II ML (sialidosis II) or I-Cell disease (I inclusion) affects infants and presents with features of Hurler's disease. The circulating lymphocytes are vacu-olated, and the bone marrow shows foamy histiocytes. Sudanophilic inclusions are present in skin fibroblasts. The clinical course ranges from 1 to several years.

Type III ML is a milder form of type II ML.

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