1 - Unidade de Medicina do Adolescente, Área da Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central
2 - Núcleo Hospitalar da Criança e Jovem em Risco, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central
- Reunião internacional (Excellence in Pediatrics)
Introduction: Hematuria is a frequent finding in children. While some of its causes are straightforward, close attention to personal and family history is warranted when no apparent diagnosis seems to be plausible.
Case description: A 7-year-old girl presents to the emergency room (ER) reporting headache, fever, foul smelling urine and gross hematuria. A urine strip test was positive for leucocytes and erythrocytes and a urinary tract infection presumed. Days later, reports of recurring fever and oliguria led to blood tests, which were normal. Pseudomonas aeruginosa was identified on a urine culture. A kidney ultrasound was normal. She was admitted to the hospital for further study, where a surprisingly high hydric balance was observed. No oedema, hypertension or renal failure were detected. Complement and coagulation studies were normal. Gross hematuria with coagules was objectified by the team on multiple samples, but suspicions were raised after it was noted that it would only happen when the mother was present. Urine collected in her absence showed no traces of hemoglobin on strip tests, even when gross hematuria was noted on the same day. These strange findings prompted further search through the mother’s medical records. These showed multiple hospital admissions, oblivious to the team, with diagnosis including tropical parasite infections, incongruent neurological deficits and unexplained hematuria, eventually deemed as factitious. There were also records on compulsory admissions to psychiatry wards. Constraints in identifying the origin of the bloody urine eventually led to the patient’s discharge, after a referral to the Child Protection Team. A month later, the patient presented with similar symptoms at the ER. A self-collected urine sample revealed similar results as before, while a catheter-collected sample, an hour later, revealed no changes. Further genetic testing in the Scientific Police Laboratory revealed that the sample with gross hematuria didn’t belong to the patient. A factitious disorder imposed on another (formerly known as Munchausen syndrome by proxy) diagnosis was assumed and custody was removed from the mother. The case is still under investigation by the authorities.
Conclusion: Factitious symptoms imposed on children by their parents are not uncommon, although under diagnosed. While most commonly diagnosed in children under 2 years old, there is usually a long lag until diagnosis. Being aware of the condition and of family risk factors is needed in order to avoid unnecessary and invasive exams, as well as to stop trauma to the child as soon as possible.
Palavras Chave: munchausen by proxy