Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu

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

doi:10.4274/tftr.94824

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

Neurology

Research output: Contribution to journal › Article › peer-review

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 contribution	Metachromatic leukodystrophy diagnosed after traumatic brain injury: A case report
Original language	Turkish
Pages (from-to)	175-177
Number of pages	3
Journal	Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi
Volume	57
Issue number	3
DOIs	https://doi.org/10.4274/tftr.94824
State	Published - 2011

Keywords

Brain plasticity
Electrophysiologic studies
MRI
Metachromatic leukodystrophy
Rehabilitation
Traumatic brain injury

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10.4274/tftr.94824

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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.",

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author = "Sel{\c c}uk G{\"u}zel and Ay{\c c}e Atalay and Nur Turhan and Benli, {{\"U}lk{\"u} Sibel} and T{\"o}re, {H{\"u}seyin G{\"u}rkan}",

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doi = "10.4274/tftr.94824",

language = "Turkish",

volume = "57",

pages = "175--177",

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T1 - Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi

T2 - Bir olgu sunumu

AU - Güzel, Selçuk

AU - Atalay, Ayçe

AU - Turhan, Nur

AU - Benli, Ülkü Sibel

AU - Töre, Hüseyin Gürkan

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Brain plasticity

KW - Electrophysiologic studies

KW - MRI

KW - Metachromatic leukodystrophy

KW - Rehabilitation

KW - Traumatic brain injury

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Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu

Abstract

Keywords

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