Eating disorder - a diagnosis of exclusion


  • Margarida Silva Fonseca Adolescent Medicine Unit, Department of Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinho
  • Helena Santos Infancy and Adolescent Neurosciences Unit, Department of Pediatrics, Hospitalar Vila Nova de Gaia/Espinho
  • Raquel Guedes Adolescent Medicine Unit, Department of Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinh
  • Hugo Braga Tavares Adolescent Medicine Unit, Department of Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinh



adolescence, eating disorders, genetic testing, myotonic dystrophy type 1


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.


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How to Cite

Fonseca MS, Santos H, Guedes R, Braga Tavares H. Eating disorder - a diagnosis of exclusion. REVNEC [Internet]. 2020Jun.26 [cited 2024Jul.15];29(2):113-6. Available from:



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