MİTOKONDRİYAL NÖROGASTROİNTESTİNAL ENSEFALOMİYOPATİ SENDROMU OLGUSU

Abstract

Mitokondriyal nörogastrointestinal ensefalomiyopati (MNGIE) nadir görülen otozomal resesif geçişli multisistemik bir hastalıktır. Timidin fosforilaz (TMYP) gen mutasyonu ve timidin fosforilaz enzim aktivitesinde bozulmaya bağlı olarak plazmada timidin ve deoksiuridin düzeylerinde artış olmaktadır. MNGIE pitoz, progresif eksternal oftalmopleji, gastrointestinal dismotilite, kaşeksi, periferal nöropati ve lökoensefalopati gibi klinik bulgularla karakterizedir.Klinik semptomların başlangıcı genellikle birinci ve beşinci dekadlar arasında olmakla birlikte hastaların %60 ında 20 li yaşlardan önce olmaktadır. Yaşam beklentisi bu hastalarda sınırlıdır ve ölüm genellikle üçüncü ve dördüncü dekadlarda kaşeksi ve intestinal komplikasyonlardan olmaktadır. Prevelansı bilinmemektedir.İlk tanımlandığı günden bu yana MNGİE hastalığı ile uyumlu özelliklere sahip 70 den az kişi bildirilmiştir. Bu makalede birçok kez gastroenteroloji kliniğinde tetkik edilmiş ancak tanı konamamış, nadir görülen bir mitokondriyal hastalık olan MNGİE sendromu olgusu sunulmuştur.

Keywords

• Mitokondriyal nörogastrointestinal ensefalopati sendromu

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME: CASE REPORT

Abstract

Mitochondrial Neurogastrointestinal Encephalomyopathy(MNGIE) is a rare autosomal recessive multisystemic disorder. Thymidine and deoxyuridine levels are increased due to thymidine phosphorilase enzyme dysfunction caused by mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). MNGIE is clinically characterized by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy and leukoencephalopathy. Clinically onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years. Life expectancy is limited and death usually occurs during the third or fourth decades generally due to cachexia and intestinal complications. The prevalence is unknown. Fewer than 70 individuals with features consistent with MNGIE disease have been reported since it was first described. In this report we represent a MNGIE syndrome case whıch is a rare seen disease that remained undiagnosed although it was examined several times in gastroenterology department.

Keywords

• Mitochondrial neurogastrointestinal encephalomyopathy syndrome

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