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Journal of Child Neurology
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*Rickets
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Hurler's Syndrome, West's Syndrome, and Vitamin D-Dependent Rickets

Marco A. Gudino, MD

Neurology Department

Jaume Campistol, PhD, MD

Neurology Department

Beatriz Chavez, MD

Neurology Department

Joan Conill, PhD, MD

Neurology Department

Susanna Hernández, MD

Pediatrics Department

Maria A. Vilaseca, PhD

Biochemistry Department Unitat Integrada Hospital Sant Joan de Déu-Clinic Universitat de Barcelona Barcelona, Spain

Mucopolysaccharidosis I is a metabolic disease of autosomal recessive inheritance caused by deficient activity of {alpha}-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).

Journal of Child Neurology, Vol. 17, No. 2, 149-151 (2002)
DOI: 10.1177/088307380201700214
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