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Journals / İnönü Üniversitesi Tıp Fakültesi Dergisi / 2008 / Cilt: 15 - Sayı: 2

Magnetic resonance imaging findings of adrenoleukodystrophy: Diagnostic values of magnetic resonance spectroscopies and diffusion weighted MRI

Adrenolökodistrofinin manyetik rezonans görüntüleme bulguları: spektroskopi ve difüzyon ağırlıklı görüntülemenin tanıya katkısı

Serdal GÜNGÖR
Yezdan FIRAT
Hakkı Muammer KARAKAŞ
Gülnur ERDEM
Ahmet Kemal FIRAT
Deniz Yakar MUTLU
Pages
103–107
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

By presenting this case report, we planned to discuss the role of magnetic resonance imaging, magnetic resonance spectroscopy and diffusion weighted imaging in the diagnosis of adrenoleukodystrophy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Adrenoleukodystrophy is an X-linked hereditary disorder involving cerebral white matter, adrenal cortex and testis.
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Key Findings & Data:The incidence of this disease is ranging between 1/25 000 and 1/100 000.
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Conclusion & Impact:By presenting this case report, we planned to discuss the role of magnetic resonance imaging, magnetic resonance spectroscopy and diffusion weighted imaging in the diagnosis of adrenoleukodystrophy.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Adrenoleukodystrophy is an X-linked hereditary disorder involving cerebral white matter, adrenal cortex and testis. The incidence of this disease is ranging between 1/25 000 and 1/100 000. This disease is diagnosed by demonstrating accumulation of very long chain fatty acids in plasma and fibroblasts by moleculer studies. In follow up, the neurologic deficits due to adrenal insufficiency and demyelination are noted. Magnetic resonance imaging is the main modality in the evaluation of leukodystrophies. By presenting this case report, we planned to discuss the role of magnetic resonance imaging, magnetic resonance spectroscopy and diffusion weighted imaging in the diagnosis of adrenoleukodystrophy.

Özet

Adrenolökodistrofi (ALD), adrenal korteks, santral sinir sistemi ve testisin etkilendiği uzun zincirli yağ asitlerinin birikimine bağlı olarak ortaya çıkan X’e bağlı geçiş gösteren metabolik bir hastalıktır. İnsidansı:1/25 000-1/100 000 arasındadır. Beyin beyaz cevherini tutan peroksizomal bir hastalıktır. ALD tanısı plazmada ve cilt-fibroblast kültüründe çok uzun zincirli yağ asitlerinin artışı ve kromozomal çalışma ile konur. Adrenal yetmezlik ve demyelinizasyona bağlı nörolojik bulgularla seyreder. Lökodistrofi hastalarında altta yatan beyaz cevher anormalilerinin karakterizasyonu, lokalizasyonu ve ayırıcı tanısında MRG öncelikli görüntüleme yöntemidir. Biz bu olgu sunumu aracılığıyla adrenolökodistrofinin manyetik rezonans görüntüleme, manyetik rezonans spektroskopi ve difüzyon ağırlıklı görüntüleme bulgularının kliniğe katkısını sunmayı amaçladık.

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Cite This Article

GÜNGÖR, S., FIRAT, Y., KARAKAŞ, H. M., ERDEM, G., FIRAT, A. K., MUTLU, D. Y. (2022). Magnetic resonance imaging findings of adrenoleukodystrophy: Diagnostic values of magnetic resonance spectroscopies and diffusion weighted MRI. İnönü Üniversitesi Tıp Fakültesi Dergisi, Cilt: 15 - Sayı: 2, 103–107. https://ajindex.com/articles/548644

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