期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2020
卷号：29
期号：2
页码：113-116
DOI：10.25753/BirthGrowthMJ.v29.i2.15091
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：In adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.
关键词：adolescência;distrofia miotónica do tipo 1;estudo genético;perturbações do comportamento alimentar
其他关键词：adolescence;eating disorders;genetic testing;myotonic dystrophy type 1
