PATIENT WITH PROMINENT GASTROINTESTINAL SYMPTOMS: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY DISEASE

Karaman Z. F., Saraçoğlu S., Olpak M., Çağlar A. S., Doğanay S., Bayram A. K., ...Daha Fazla

ERCİYES PEDIATRIC ACADEMY WINTER CONGRESS, Kayseri, Türkiye, 9 - 11 Mart 2017, ss.11

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Kayseri
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.11
  • Erciyes Üniversitesi Adresli: Evet

Özet

Introduction: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) disease is an autosomal recessive inherited rare multisystemic disorder, loss-of-function thymidine phosphorylase gene mutations, causing mitochondrial DNA instability and consecutive mitochondrial dysfunction. Patients with severe gastrointestinal symptoms due to the mitochondrial disorders are misdiagnosed as eating disorder. MNGIE disease is a progressive, degenerative multisystemic disease with a poor prognosis. The aim of the present report is to show how to increase the correct diagnosis of MNGIE disease. Material and method: The radiological and clinical features of a patient with MNGIE was presented. Results: A 17 years old male patient who have emesis, abdominal pain, cachexia, mental and growth retardation. Abdomen CT showed that dilated stomach proximal duodenum and compression of the third part of the duodenum between the superior mesenteric artery and aorta cause superior mesenteric artery syndrome. Brain MRI showed that leukoencephalopathy manifest as diffuse hyperintensity in the cerebral white matter, sparing of corpus callosum, brainstem and internal capsule. MR spectroscopy showed lactate peaks that mimic mitochondrial diseases. Conclusion: Early diagnosis of MNGIE diseases prevents the seconder complication and poor prognosis.