Mitochondrial neurogastrointestinal encephalomyopathy: Case report

Colak Y., Tuncer I., Caglar E., Barutcu D., Ulasoglu C., Kiziltas S.

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.21, sa.3, ss.305-307, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.4318/tjg.2010.0106
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.305-307
  • Anahtar Kelimeler: Mitochondrial neurogastrointestinal encephalomyopathy, intestinal pseudoobstruction, deafness, diabetes mellitus, hypothyroidism, MNGIE, MUTATION
  • Marmara Üniversitesi Adresli: Hayır

Özet

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.