Affiliations: [a] Surat Municipal Institute of Medical Education and Research, Surat, Gujarat, India | [b] Department of Physical Medicine and Rehabilitation, All India Institute of Physical Medicine and Rehabilitation, Mumbai, Maharashtra, India
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.
