Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu

Translated title of the contribution: Metachromatic leukodystrophy diagnosed after traumatic brain injury: A case report

Selçuk Güzel, Ayçe Atalay, Nur Turhan, Ülkü Sibel Benli, Hüseyin Gürkan Töre

Research output: Contribution to journalArticle

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.

Translated title of the contributionMetachromatic leukodystrophy diagnosed after traumatic brain injury: A case report
Original languageTurkish
Pages (from-to)175-177
Number of pages3
JournalTurkiye Fiziksel Tip ve Rehabilitasyon Dergisi
Volume57
Issue number3
DOIs
StatePublished - Jan 1 2011

Keywords

  • Brain plasticity
  • Electrophysiologic studies
  • MRI
  • Metachromatic leukodystrophy
  • Rehabilitation
  • Traumatic brain injury

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