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Journals / Ege Tıp Dergisi / 2017 / Cilt: 56 - Sayı: 2

Maple syrup urine disease with cranial imaging findings

Kraniyal görüntüleme bulguları ile akçaağaç şurubu idrar hastalığı

Yusuf KALE
Ece KARAOĞLU
Pages
47–49
DOI
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AI Summary & Key Takeaways

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

Herein we aimed to report a case of MSUD with its MR imaging findings and to discuss the management for this case.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Maple syrup urine disease (MSUD) also known as branched-chain ketoaciduria, is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase complex.
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Key Findings & Data:It has autosomal recessive inheritance.
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Conclusion & Impact:Herein we aimed to report a case of MSUD with its MR imaging findings and to discuss the management for this case.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Maple syrup urine disease (MSUD) also known as branched-chain ketoaciduria, is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase complex. It has autosomal recessive inheritance. It is characterized by irritability, feeding problems, vomiting, lethargy, dystonia and a maple syrup odor of the urine in newborn infants. Herein we aimed to report a case of MSUD with its MR imaging findings and to discuss the management for this case.

Özet

Dallı-zincirli ketoasidüri olarak da bilinen Akçaağaç şurubu idrar hastalığı (MSUD) dallı-zincirli alfa ketoasit dehidrogenaz kompleks aktivitesindeki yetersizliğinden kaynaklanır. Otozomal resesif olarak kalıtılan bir hastalıktır. Yenidoğanda huzursuzluk, emme problemleri, kusma, letarji, distoni ve idrarda akçaağacı kokusu ile karakterizedir. Burada MSUD tanısı alan olgunun kraniyal manyetik rezonans bulguları ile birlikte sunulmasını ve yönetiminin tartışılmasını amaçladık.

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Cite This Article

KALE, Y., KARAOĞLU, E. (2017). Maple syrup urine disease with cranial imaging findings. Ege Tıp Dergisi, Cilt: 56 - Sayı: 2, 47–49. https://ajindex.com/articles/222711

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