Mitochondrial neurogastrointestinal encephalomyopathy: Case report

Amaç & Hipotez:Mitokondriyal nörogastrointestinal ensefalomiyopati, timidin fosforilaz eksikliğine bağlı, otozomal resesif, multisistemik bir hastalıktır.

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Temel Bulgular & Veri:Hastalığın kliniği pitozis, progresif eksternal oftalmoparezi, ciddi gastrointestinal motilite bozukluğu, periferik nöropati, lökoensefalopati ve mitokondriyal anormalliklerle karakterizedir.

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Sonuç & Katkı:Burada intestinal psödoobstrüksiyon ile prezante olan mitokondriyal nörogastrointestinal ensefalomiyopati olgusunu sunduk.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Genç erişkin · Kadın · Timidin Fosforilaz

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.

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.

Anahtar kelimeler

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

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Bu Makaleye Atıf Yap

ÇOLAK, Y., TUNCER, İ., ÇAĞLAR, E., BARUTÇU, D., ULAŞOĞLU, C., KIZILTAŞ, Ş. (2010). Mitochondrial neurogastrointestinal encephalomyopathy: Case report. Turkish Journal of Gastroenterology, Cilt: 21 - Sayı: 3, 305–307. https://ajindex.com/articles/411151

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Kaynakça (11)

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