title: [Mitochondrial neurogastrointestinal encephalopathy disease].
abstract: Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucleotide pool imbalance and to instability of the mitochondrial DNA. The clinical picture regroups gastrointestinal dysmotility, cachexia, ptosis, ophthalmoplegia, peripheral neuropathy, and asymptomatic leukoencephalopathy. The prognosis is unfavorable. We present the case of a 14-year-old Caucasian female whose symptoms started in early childhood. The diagnosis was suspected after magnetic resonance imaging (MRI), performed given the atypical features of mental anorexia, which revealed white matter abnormalities. She presented chronic vomiting, postprandial abdominal pain, and problems gaining weight accompanied by cachexia. This diagnosis led to establishing proper care, in particular an enteral and parenteral nutrition program. There is no known specific effective treatment, but numerous studies are in progress. In this article, after reviewing the existing studies, we discuss the main diagnostic and therapeutic aspects of the disease. We argue for the necessity of performing a cerebral MRI given the atypical features of a patient with suspected mental anorexia (or when the clinical pattern of a patient with mental anorexia seems atypical), so that MNGIE can be ruled out.
authors.affiliation: Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: abenureau@hotmail.fr.
authors.forename: A
authors.initials: A
authors.lastname: Benureau
authors.affiliation: Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Inserm U1046, université Montpellier 1, université Montpellier 2, 34000 Montpellier, France.
authors.forename: P
authors.initials: P
authors.lastname: Meyer
authors.affiliation: Service de chirurgie viscérale infantile, hôpital Lapeyronie, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: O
authors.initials: O
authors.lastname: Maillet
authors.affiliation: Service de neuroradiologie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: N
authors.initials: N
authors.lastname: Leboucq
authors.affiliation: Médecine psychologique de l'enfant et de l'adolescent, hôpital Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: S
authors.initials: S
authors.lastname: Legras
authors.affiliation: Service de maladies infectieuses et immunologie clinique, hôpital Arnaud-de-Villeneuve, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: E
authors.initials: E
authors.lastname: Jeziorski
authors.affiliation: Service de gastro-entérologie pédiatrique, hôpital Arnaud-de-Villeneuve, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: S
authors.initials: S
authors.lastname: Fournier-Favre
authors.affiliation: Service de néphrologie et endocrinologie pédiatrique, hôpital Arnaud-de-Villeneuve, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: C
authors.initials: C
authors.lastname: Jeandel
authors.affiliation: Laboratoire de biochimie, hôpital Bicêtre, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France.
authors.forename: P
authors.initials: P
authors.lastname: Gaignard
authors.affiliation: Laboratoire de biochimie, hôpital Bicêtre, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France.
authors.forename: A
authors.initials: A
authors.lastname: Slama
authors.affiliation: Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Inserm U1046, université Montpellier 1, université Montpellier 2, 34000 Montpellier, France.
authors.forename: F
authors.initials: F
authors.lastname: Rivier
authors.affiliation: Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Inserm U 1051, INM, 34000 Montpellier, France.
authors.forename: A
authors.initials: A
authors.lastname: Roubertie
authors.affiliation: Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: M
authors.initials: M
authors.lastname: Carneiro
mesh_terms: D000293:Adolescent; D000855:Anorexia / Q000209:etiology; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000175:diagnosis*; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D028361:Mitochondrial Diseases