MR and Diffusion-Weighted MR Images in Maple Syrup Urine Disease Encephalopathy

We want to emphasize that we should concentrate on the early diagnosis of MSUD with the characteristic MR and diffusion-weighted MR imaging fi ndings in a lethargic newborn before completing the metabolic work-up

📌 3 Key Takeaways

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Objective & Hypothesis:Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine.

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Key Findings & Data:We report a newborn patient who had a prediagnosis of metabolic disease and who was determined to have MSUD by MR and diffusion-weighted MR imaging at 18 days of life.

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Conclusion & Impact:We want to emphasize that we should concentrate on the early diagnosis of MSUD with the characteristic MR and diffusion-weighted MR imaging fi ndings in a lethargic newborn before completing the metabolic work-up

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Akçaağaç şurubu idrar hastalığı · Kranyal manyetik rezonans görüntüleme · Yenidoğan

Abstract

Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine. These patients usually present with acute metabolic crisis. MRI fi ndings are diffuse oedema involving the cerebellar white matter, pons, bulbus, cerebral peduncles, the posterior limbs of the internal capsules and the thalami. This MR image is called MSUD oedema. Diffusion-weighted imaging fi ndings are also present at the same areas. We report a newborn patient who had a prediagnosis of metabolic disease and who was determined to have MSUD by MR and diffusion-weighted MR imaging at 18 days of life. We want to emphasize that we should concentrate on the early diagnosis of MSUD with the characteristic MR and diffusion-weighted MR imaging fi ndings in a lethargic newborn before completing the metabolic work-up

Özet

Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin, izolösinin metabolizmasındaki genetik defekte bağlı bir hastalıktır. Bu hastalar genellikle akut metabolik ensefalopatik kriz ile başvururlar. Kraniyal MR görüntüleme de; serebellar beyaz cevher, pons, bulbus, serebral pedinküller, internal kapsülün posterior kolları ve talamik çekirdeklerde yaygın, yoğun ödem bulunmaktadır. Bu görüntü terminolojide MSUD ödemi olarak geçmektedir. Yine difüzyon MR görüntülerinde aynı bölgelerde difüzyon kısıtlılığı saptanmaktadır. Biz bu olguda; metabolik hastalık ön tanısıyla yatırılan ve 18. gününde ilk olarak MR ve difüzyon MR görüntüleriyle MSUD tanısı üzerinde yoğunlaşılan bir yenidoğan hastayı sunduk. Sonuç olarak; letarjik bir yenidoğanda metabolik tetkikleri tamamlanana kadar karekteristik MR ve difüzyon MR görüntüleri ile MSUD hastalığı tanısı düşünebileceğimizi vurgulamak istedik.

Keywords

Akçaağaç şurubu idrar hastalığı Kranyal manyetik rezonans görüntüleme Yenidoğan Maple syrup urine disease Cranial magnetic resonance imaging Newborn

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Cite This Article

BEKTAŞ, Ö., AKKUZU, E., ÜNAL, S., YILMAZ, C., TAŞKIN, B. D., GÜNEŞ, A., GÜNDÜZ, M. (2022). MR and Diffusion-Weighted MR Images in Maple Syrup Urine Disease Encephalopathy. Türkiye Çocuk Hastalıkları Dergisi, Cilt: 9 - Sayı: 1, 59–61. https://ajindex.com/articles/627453

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