Metachromatic Leukodystrophy Diagnosed after Traumatic Brain Injury: A Case Report


Guzel S., Atalay A., TURHAN N., Benli U. S. , Tore H. G.

TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION, vol.57, no.3, pp.175-177, 2011 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.4274/tftr.94824
  • Title of Journal : TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION
  • Page Numbers: pp.175-177

Abstract

Metachromatic leukodystrophy (MLD) is a rare inherited neurodegenerative disorder caused by a deficiency of a lysosomal enzyme arylsulphatase A. Herein, we report the case of a patient with late-onset MLD who presented with symptoms inconsistent with traumatic brain injury. The diagnosis of MLD was based only on MRI findings and low levels of arylsulphatase A. Although there was an underlying serious neurodegenerative disorder; the patient responded well to rehabilitation. Turk Phys Med Rehab 2011;57:175-7.