Introduction Mitochondrial neurogastrointestinal encephalopathy or MNGIE syndrome is characterized by progressive gastrointestinal dysmotility cachexia peripheral neuropathyophthalmoplegia and leukoencephalopathy.Material and methods:15-year-old boy from a consanguineous marriage, with no previous history,who presents a chronic clinical manifestation evolving since the age of 12 years made of chronic vomiting,anorexia,normal transit, 2 episodes of afebrile generalized tonicoclonic epileptic seizures,a delay in schooling,The clinical examination shows cachexia,delayed height and weight, skin heat,asthenia,a tender abdomen without abdominal mass or hepato-slpenomegaly, no lesions of the oral cavity or disorders of the phaneres, proctological examination is normal, no neurological deficiency, blood pressure 100/80 correct for age, negative urine chemistry.The complete biological check-up (complete hepatic function, renal, haemostasis, thyroid, phosphocalcic,coeliac serology) shows hyponatremia at118mmol/ lthe upper digestive endoscopy reveals esophagitis and erythematous gastritis the oesophagus and duodenal biopsies are normal the oesophagus and duodenal transit shows gastroparesis without obstruction.The brain MRI shows an incipient leukodystrophy.the radioclinic picture is suggestive of a myoneuro-gastrointestinal encephalopathy.the study of the TYMP gene (NM_001953) reveals a homozygous mutation. Discussion The onset of MNGIE syndrome ranges from 10 to 40 years the symptomatology is progressive and dominated by severe gastrointestinal disorders (vomiting,gastroparesis) leading to cachexia as in the case of our patient the neurological involvement dominated by ophthalmoplegia and peripheraln neuropathy which are absent in our patient at this stage The brain imaging shows very often a leukodystrophy which remains subclinical.Conclusion The MNGIE syndrome is a pathology of unknown prevalence, and of difficult diagnosis often delayed because of the ignorance of the disease

Seyfeddine BAOUIA
Private Medical Office
Algeria