Mitokondriyal nörogastrointestinal ensefalomiyopati: Olgu sunumu

Objective & Hypothesis:Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency.

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Key Findings & Data:The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities.

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Conclusion & Impact:Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Genç erişkin · Kadın · Timidin Fosforilaz

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities. Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.

Özet

Mitokondriyal nörogastrointestinal ensefalomiyopati, timidin fosforilaz eksikliğine bağlı, otozomal resesif, multisistemik bir hastalıktır. Hastalığın kliniği pitozis, progresif eksternal oftalmoparezi, ciddi gastrointestinal motilite bozukluğu, periferik nöropati, lökoensefalopati ve mitokondriyal anormalliklerle karakterizedir. Burada intestinal psödoobstrüksiyon ile prezante olan mitokondriyal nörogastrointestinal ensefalomiyopati olgusunu sunduk.

Keywords

Genç erişkin Kadın Timidin Fosforilaz Bağırsak yalancı-tıkanıklığı Mitokondrial ensafalomiyopati Young Adult Female Thymidine Phosphorylase Intestinal Pseudo-Obstruction Mitochondrial Encephalomyopathies

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Cite This Article

ÇOLAK, Y., TUNCER, İ., ÇAĞLAR, E., BARUTÇU, D., ULAŞOĞLU, C., KIZILTAŞ, Ş. (2010). Mitokondriyal nörogastrointestinal ensefalomiyopati: Olgu sunumu. Turkish Journal of Gastroenterology, Cilt: 21 - Sayı: 3, 305–307. https://ajindex.com/articles/411151

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