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A case of mitochondrial neuro-gastrointestinal encephalopathy or MNGIE syndrome, why not?

Introduction:Mitochondrial neuro-gastrointestinal encephalopathy or MNGIE syndrome is characterized by progressive gastrointestinal dysmotility,cachexia,peripheral neuropathy,ophthalmoplegia and leukocephalopathy.Objectives:we report a case of early diagnosis in a teenager.Methodes:a 15 year-old boy,from an inbreeding marriage,without past medical history, who presents a chronic clinical probleme evolving since his 12 years age made chronic vomiting, anorexia,with normal transit,tow generalized tonic seizures in apyretic context,he has a school delay,his clinical findings are cachexia,failure to thrive,skin pallor,asthenia,no palpable abdominal mass or hepato-slpenomegaly,no lesions of the oral cavity or disorders of the phaneres,proctological examination is normal,no neurological deficit,arterial blood pressure 100/80 is normal,urine chemistry is normal.complete biological report (hepatic,renal,hemostasis,thyroid,phosphocalcic, coeliac serology)objectives hyponatremia at 118 mmol/l;Uper digestive endoscopy reveals esophagitis and erythematous gastritis, esogastroduodenal biopsies are normal;the Upper gastrointestinal series objective gastroparesis without obstacl downstream(fig1).Cerebral MRI reveals a leukodystrophy(fig2).The radioclinical picture evokes a mitochondrial-neuro-gastrointestinal encephalopathy syndrome. The study of the gene TYMP(NM_001953)reveals an homozygous mutation.The assay of lymphocyte phosphrylase thymidine activity is ongoing.Results:The onset of MNGIE syndrome ranging from 10 to 40 years,The symptomatology is progressive and dominated by severe gastrointestinal disorders (vomiting, gastroparesis)leading to cachexia as the case of our patient,neurological involvement dominated by ophthalmoplegia and peripheric neuropathy that are absent in our patient at this stage.Brain imaging very often shows leukodystrophy that remains subclinical.Conclusion: MNGIE syndrome is a very rare disease with unknown prevalence,and difficult diagnosis often delayed due to lack of knowledge of the disease.C. Garone et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011: 134; 3326–3332
Keywords: MNGIE syndrome,TYMP,Leucoencephalopathy.