ERCİYES PEDIATRIC ACADEMY WINTER CONGRESS, Kayseri, Turkey, 9 - 11 March 2017, pp.11
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.