title: Role of rehabilitation in Hurler's syndrome.
abstract: Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome. Till date only treatment available is enzyme replacement therapy which is neither cost effective nor easily available. Thus a multidisciplinary rehabilitation team set a goal oriented and well-coordinated approach and successfully rehabilitated the patient. To conclude early diagnosis, multidisciplinary, goal oriented and well-coordinated, rehabilitation team can be key in management of hurler syndrome.
authors.affiliation: Surat Municipal Institute of Medical Education and Research, Surat, Gujarat, India.
authors.forename: Sudhir Ramkishore
authors.initials: SR
authors.lastname: Mishra
authors.affiliation: Surat Municipal Institute of Medical Education and Research, Surat, Gujarat, India.
authors.forename: Mona
authors.initials: M
authors.lastname: Shastri
authors.affiliation: Department of Physical Medicine and Rehabilitation, All India Institute of Physical Medicine and Rehabilitation, Mumbai, Maharashtra, India.
authors.forename: Jaishree
authors.initials: J
authors.lastname: Ramesh
mesh_terms: D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D006025:Glycosaminoglycans; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000188:drug therapy*
chemical_list: D006025:Glycosaminoglycans; C020341:glucosaminoglycans; D007068:Iduronidase
keywords: Hurler syndrome; a-L-Iduronidase; mucopolysaccharidosis