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.

Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review

“…It is very important to train the patient in order to help him with ambulation and postural alignment, but also to prevent the formation of contractures and the progression of scoliosis [17]. In case the disease causes a kyphotic deformity, a spine anomaly very painful and disabling for children owing to aesthetic, kinaesthetic and respiratory aspects, a spinal orthosis made of ethaflex and polypropylene could be a supportive treatment when cervical spine compression is not at high levels [48]. TENS may also play an effective role in controlling hyperalgesia and allodynia [50].…”

“…A case report, conducted by Mishra et al, reported good outcomes on the treatment of kyphotic deformity. They tested, in a 2-year-old subject affected by Hurler syndrome, a spinal orthosis made of ethaflex and with polypropylene able to reduce a prominent gibbus from 50° to 20°, hold up paravertebral muscles and let the little patient regain autonomy in standing and walking [48].…”