A Comprehensive Physical Therapy Approach in Late Infantile Form of Metachromatic Leukodystrophy-A Case Study

Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain and inherited as an autosomal recessive trait. Late infantile form of metachromatic leukodystrophy is usually detected in the second year of life, most commonly before the age of 30 months. The initial signs of the late infantile form include irritability, diminished muscle tone, and gait disturbance.

A 2 year male child was identified as cerebral palsy by investigating MRI brain for the first time due to delayed developmental milestones where mild periventricular leukomalacia was noticed. After few days, child suffered from pneumonia and that leads to akinesia, aphasia, spasticity and loss of intellectual function. Buclofen and other supportive drugs prescribed by neurology physician after recovered from pneumonia and encouraged physical therapy. However, it has again diagnosed as late infantile form of metachromatic leukodystrophy at the age of 2 year 3 month by investigating MRI findings for the second time after parents complained the reversal in progression of their child. The management is symptomatic and supportive; clinical support, physiotherapy, nutrition and nursing care.

Even though there is no cure, a comprehensive physical therapy of different approaches are neurodevelopmental approach, roods approach where prolonged icing encouraged to reduce spasticity, functional position to improve neck control and spine, swiss ball exercises and sustained stretching are emphasized and that improved static neck control and reduced spasticty from grade 3 to grade 1 (MAS).