Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets

J Child Neurol. 2002 Feb;17(2):149-51. doi: 10.1177/088307380201700214.

Abstract

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 1, West's syndrome, and vitamin D-dependent rickets.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations
  • Electroencephalography
  • Genes, Recessive
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics
  • Iduronidase / deficiency
  • Infant
  • Male
  • Mucopolysaccharidosis I / diagnosis
  • Mucopolysaccharidosis I / genetics*
  • Neurologic Examination
  • Rickets / diagnosis
  • Rickets / genetics*
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / genetics*
  • Tomography, X-Ray Computed

Substances

  • Iduronidase