RESUMO
Uma paciente de 4 meses de idade foi encaminhada ao hospital por aumento de volume abdominal, cianose e febre há dois meses. Ao exame, apresentou hepatoesplenomegalia. Com os resultados laboratoriais constatou-se anemia hipocrômica microcítica, leucocitose, plaquetopenia e provas de função hepática alteradas. Levantou-se a hipótese de erros inatos do metabolismo. A paciente evoluiu desfavoravelmente e foi a óbito. A necropsia o fígado apresentou-se cirrótico e com grande depósito de ferro no parênquima. O diagnóstico anatomopatológico foi hemocromatose hereditária, no entanto os resultados laboratoriais confirmaram tirosinemia tipo 1. Tanto a hemocromatose primária quanto a tirosinemia evoluem com cirrose hepática, sendo que a segunda pode ocasionalmente levar ao depósito de ferro do tipo hemocromatose secundária, o que dificulta muito a diferenciação entre elas com bases puramente anatomopatológicas, acarretando, assim, um diagnóstico errôneo de hemocromatose hereditária. Esse diagnóstico diferencial muitas vezes só é possível com os achados de rastreamento de erros inatos do metabolismo.
RESUMO
BACKGROUND: If internal hernias account for less than 1% of the causes of intestinal obstruction, the paraduodenal or paramesocolic hernias (PMH) represent 50% of the 500 published as of the year 2000. Despite their congenital character, they are diagnosed more frequently in adulthood, with a mean age of 38 years at diagnosis. In the last few years, diagnoses are being made earlier. With the goal of increased early diagnosis and decreased mortality associated with these internal hernias, the authors report on 3 young patients with PMH. METHODS: Three cases of paramesocolic hernias are reported, 2 right (RPMH) and 1 left (LPMH). They all had a history of symptoms of recurrent abdominal pain of variable frequency and intensity but of sufficient importance to justify previous diagnostic studies. The 2 patients with RPMH, a 3-year-old boy and a 17-year-old woman, presented symptoms of intestinal obstruction and had necrosis of the small intestine leading to short-bowel syndrome. The LPMH patient, a 13-year-old boy, suffered recurrent abdominal pain from the age of 3. Gastroesophageal reflux was diagnosed, and surgery was performed at the age of 4 years. A laparoscopy at 13 years of age found no pathology. A new upper gastrointestinal tract series found retroperitoneal and paraduodenal jejunum incarceration, partially obstructing the duodenum. During surgery, the adhered jejunal section was restored intraperitoneally, and the open Treitz arch was closed. The authors have not found the anatomic characteristics of this case in the literature. CONCLUSIONS: Delays and errors in PMH diagnosis may result in irreparable damage. Differential diagnosis workups of patients with recurrent abdominal pain syndrome should always include PMH.