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).
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References
1.
Neufeld E., Muenzer J.: The mucopolysaccharidosis, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw-Hill, 1995, 2465-2508.
2.
Scott HS, Bunge S., Gal A., et al: Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical and biological implications. Hum Mutat1995;6:288-302.
3.
Gort L., Chabas A., Coll MJ: Analysis of five mutations in 20 mucopolysaccharidosis type 1 patients: High prevalence of the W420X mutation. Mutations in brief no. 121 [on line]. Hum Mutat1998;11: 332-333.
4.
Tandon V., Williamson JB, Cowie RA, Wraith JE: Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br1996;78:938-944.
5.
Gullingsrud EO, Krivit W., Summers CG: Ocular abnormalities in the mucopolysaccharidosis after bone marrow transplantation. Longer follow-up. Ophthalmology1998;105:1099-1105.
6.
Alroy J., Haskins M., Birk DE: Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, II and IV. Exp Eye Res1999;68:523-530.
7.
Fleming DR, Henslee-Downey PJ, Ciocci G., et al: The use of partially HLA-mismatched donors for allogenic transplantation in patients with mucopolysaccharidosis-I. PediatrTransplant1998;2:299-304.
8.
Lutzko C., Omori F., Abrams-Ogg AC, et al: Gene therapy for canina alpha-L-irudonidase deficiency: In utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease. Hum Gene Ther1999;10:1521-1532.
9.
Fairbairn LJ , Lashford LS, Spooner E., et al: Towards gene therapy of Hurler syndrome . Cas Lek Cesk1997;136:27-31.
10.
Shull RM, Lu X., McEntee MF, et al: Myoblast gene therapy in canine mucopolysaccharidosis I: Abrogation by an immune response to alpha-L-iduronidase. Hum Gene Ther1996;7:1595-1603.
11.
Kakkis ED, McEntee MF, Schmidtchen A., et al: Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. BiochemMol Med1996;58:156-167.
12.
Aicardi J.: Diseases of the Nervous System in Childhood, 2nd ed. London, MacKeith Press, 1998.
13.
Bruyere H., Lewis ME, Woods S., et al: Confirmation of linkage in X-linked infantile spasms (West syndrome) on refinement of the disease locus to Xp21.3-xp22. Clin Genet1999;55:173-178.
14.
Stromme P., Sundet K., Mark C., et al: X mental retardation and infantile spasms in a family: New clinical data and linkage to xp 11.4-xp22.11. J Med Genet1999;36:374-378.
15.
Bingham PM, Spinner NB, Sovinsky L., et al: Infantile spasms associated with proximal duplication of chromosome 15q. Pediatr Neurol1996;15:163-165.
16.
Campistol J. : Sindromes epilepticos en el primer año de vida y errores congénitos del metabolismo. Rev Neurol2000;30(Suppl 1):S60-S74.
17.
Fraher LJ, Karmali R., Hinde Frj, et al: Vitamin D-dependent rickets type II: Extreme end organ resistance to 1,25-dihydroxy vitamin D(3) in a patient without alopecia. Eur J Pediatr1986;145:389-395.
18.
Hughes MR, Malloy PJ, Kieback DG, et al: Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science1988;242:1702-1705.
19.
Stio M., Lunghi B., Iantomasi T., et al: Effect of vitamin D deficiency and 1,25-dihydroxyvitamin D3 on metabolism and D-glucose transport in rat cerebral cortex. J Neurosci Res1993;35: 559-566.
