TY - JOUR
T1 - Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa
AU - Demaria, Francesco
AU - Caramadre, Anna Maria
AU - D'Amico, Adele
AU - Diamanti, Antonella
AU - Fattori, Fabiana
AU - Casini, Maria Pia
AU - Vicari, Stefano
PY - 2016
Y1 - 2016
N2 - 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
AB - 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
KW - Adolescent
KW - Anorexia nervosa
KW - Mitochondrial neurogastrointestinal encephalopathy syndrome
KW - Thymidine phosphorylase
KW - Adolescent
KW - Anorexia nervosa
KW - Mitochondrial neurogastrointestinal encephalopathy syndrome
KW - Thymidine phosphorylase
UR - http://hdl.handle.net/10807/154742
U2 - 10.1016/j.jadohealth.2016.08.012
DO - 10.1016/j.jadohealth.2016.08.012
M3 - Article
SN - 1054-139X
VL - 59
SP - 729
EP - 731
JO - Journal of Adolescent Health
JF - Journal of Adolescent Health
ER -