Cirrose hepática e hemocromatose neonatal secundária associadas à tirosinemia tipo 1: relato de um caso e diagnóstico diferencial com hemocromatose primária hereditária Liver cirrhosis and secondary neonatal haemochromatosis associated to type 1 tyrosinemia: case report and differential diagnosis with hereditary haemochromatosis

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. À 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.<br>A 4-month-old female patient was taken to hospital due to increase in abdominal volume, cyanosis and fever for two months. At examination, she presented hepatosplenomegaly. Laboratory tests revealed hypochromic anemia (due to iron deficiency), leucocytosis, low platelet count and altered hepatic functions. Innate metabolic error was suspected. Follow-up developed unfavorably and she died. At necropsy, the liver was cirrhotic, with large iron deposits in the parenchyma. Necropsy diagnosis was haemochromatosis, and laboratorial results confirmed type 1 tyrosinemia. Either primary haemochromatosis or tyrosinemia could cause hepatic cirrhosis. Tyrosinemia may also cause iron deposits in the liver parenchyma, similar to those observed in secondary haemochromatosis. Such facts can make differential diagnosis difficult between these and other conditions such as hereditary haemochromatosis. In fact, differential diagnosis is only achievable by using laboratorial tests for innate metabolic errors

Assessment of surgical outcomes of limbal transplantation using simple limbal epithelial transplantation technique in patients with total unilateral limbal deficiency

ABSTRACT This study aimed to evaluate the effectiveness of the novel simple limbal epithelial transplantation (SLET) technique, which reduces the risk of iatrogenic limbal stem cell deficiency in the donor eye. Four patients with total unilateral limbal stem cell deficiency received a limbal graft, measuring 4 mm × 2 mm, from the contralateral healthy eye in a single surgical procedure. The graft was divided into 10-20 pieces and distributed on the corneal surface. At 6-month follow-up, a completely avascular corneal epithelial surface was obtained in two patients, and there was improvement in visual acuity in one patient. The limbal grafts did not adhere to the cornea in one patient. No serious complications related to the surgery were observed in this study