title: Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy on brain magnetic resonance imaging. The disease is clinically heterogeneous with the main symptoms being gastrointestinal, with an important weight loss. Symptoms might worsen rapidly, and a timely diagnosis is vital. However, patients report retrospectively their first symptoms before the age of 12 years, but the delay in diagnosis varies from 5 to 10 years. In the present study, we report a case of an adolescent with MNGIE, which was initially, and erroneously, diagnosed as anorexia nervosa. To make a timely and accurate differential diagnosis, we will discuss the clinical differences and similarities between MNGIE and anorexia nervosa and the importance of a multidisciplinary evaluation.
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: francesco.demaria@opbg.net.
authors.forename: Francesco
authors.initials: F
authors.lastname: Demaria
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy; Institute of Psychiatry and Psychology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: De Crescenzo
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Caramadre
authors.affiliation: Neuromuscular and Neurodegenerative Disorders Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.affiliation: Artificial Nutrition Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Diamanti
authors.affiliation: Neuromuscular and Neurodegenerative Disorders Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Casini
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari
mesh_terms: D000293:Adolescent; D000410:Alanine Transaminase / Q000097:blood; D000856:Anorexia Nervosa / Q000175:diagnosis; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D014463:Ultrasonography
chemical_list: D000410:Alanine Transaminase
keywords: Adolescent; Anorexia nervosa; Mitochondrial neurogastrointestinal encephalopathy syndrome; Thymidine phosphorylase