Hurler's Syndrome, West's Syndrome, and Vitamin D-Dependent Rickets

Mucopolysaccharidosis I is a metabolic disease of autosomal recessive inheritance caused by deficient activity of α-L-iduronidase. The clinical phenotype presents a wide spectrum of signs in the first year of life. We report a child with clinical features and laboratory data consistent with mucopolysaccharidosis I who precociously developed hydrocephalus and flexion spasms with hypsarrythmia in the electroencephalographic registration characteristic of West's syndrome. His radiologic and biochemical data suggested vitamin D-dependent rickets. To our knowledge, this is the first report of a patient demonstrating an association among mucopolysaccharidosis I, West's syndrome, and vitamin D-dependent rickets. (J Child Neurol 2002;17:149-151).