Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa
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- 作者：Francesco Demaria ; M.D.a ; francesco.demaria@opbg.net" class="auth_mail" title="E-mail the corresponding author ; Franco De Crescenzo ; M.D. ; M.Sc.a ; b ; Anna Maria Caramadre ; M.D.a ; Adele D'Amico ; M.D.c ; Antonella Diamanti ; M.D.d ; Fabiana Fattori ; Ph.D.c ; Maria Pia Casini ; M.D.a ; Stefano Vicari ; M.D. ; Ph.D.a
- 关键词：Adolescent ; Anorexia nervosa ; Mitochondrial neurogastrointestinal encephalopathy syndrome ; Thymidine phosphorylase
- 刊名：Journal of Adolescent Health
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：59
- 期：6
- 页码：729-731
- 全文大小：266 K
文摘
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.