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Journals / Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi / 2011 / Cilt: 57 - Sayı: 3

Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu

Metachromatic leukodystrophy diagnosed after traumatic brain injury: A case report

Nur TURHAN
Ayçe ATALAY
Ülkü Sibel BENLİ
Selçuk GÜZEL
Hüseyin Gürkan TÖRE
Pages
175–177
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Turk J Phys Med Rehab 2011;57:175-7.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Metachromatic leukodystrophy (MLD) is a rare inherited neurodegenerative disorder caused by a deficiency of a lysosomal enzyme arylsulphatase A.
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Key Findings & Data:Herein, we report the case of a patient with late-onset MLD who presented with symptoms inconsistent with traumatic brain injury.
💡
Conclusion & Impact:Turk J Phys Med Rehab 2011;57:175-7.
🔬Design:Research Article
📍Scope:2011 Verileri
⚙️Variables:Domain Parameters

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 J Phys Med Rehab 2011;57:175-7.

Özet

Metakromatik lökodistrofi (MLD), lizozomal enzim arilsülfataz A eksikliği sonucu oluşan nadir rastlanan herediter nörodejeneratif bir bozukluktur. Biz bu yazımızda, travmatik beyin hasarı semptomlarına uymayan, geç başlangıçlı bir MLD vakası sunduk. Fakat tanısı sadece MR bulguları ve düşük arilsülfataz A düzeylerine dayanarak konuldu. Altta yatan bu kadar ciddi nörodejeneratif bozukluk olmasına rağmen hasta rehabilitasyona çok iyi bir yanıt verdi. Türk Fiz T›p Re­hab Derg 2011;57:175-7.

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Cite This Article

TURHAN, N., ATALAY, A., BENLİ, Ü. S., GÜZEL, S., TÖRE, H. G. (2022). Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi, Cilt: 57 - Sayı: 3, 175–177. https://ajindex.com/articles/629013

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