Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

Stefano Vicari, Adele D'Amico, Francesco Demaria, Anna Maria Caramadre, Antonella Diamanti, Fabiana Fattori, Maria Pia Casini

Research output: Contribution to journalArticle

6 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)729-731
Number of pages3
JournalJournal of Adolescent Health
Publication statusPublished - 2016


  • Adolescent
  • Anorexia nervosa
  • Mitochondrial neurogastrointestinal encephalopathy syndrome
  • Thymidine phosphorylase


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