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 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.
Gudiño
Marco A
MA
Neurology Department, Unitat Integrada Hospital San Joan de Déu-Clinic, Universitat de Barcelona, Spain.
Campistol
Jaume
J
Chavez
Beatriz
B
Conill
Joan
J
Hernández
Susanna
S
Vilaseca
María A
MA
D002869:Chromosome Aberrations; D004569:Electroencephalography; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D007068:Iduronidase / Q000172:deficiency; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D012279:Rickets / Q000175:diagnosis / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D007068:Iduronidase