Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

作者：Demaria Francesco^*; De Crescenzo Franco; Caramadre Anna Maria; D'Amico Adele; Diamanti Antonella; Fattori Fabiana; Casini Maria Pia; Vicari Stefano

来源：Journal of Adolescent Health, 2016, 59(6): 729-731.

DOI：10.1016/j.jadohealth.2016.08.012

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.

• 出版日期2016-12