RESUMO
Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.
Assuntos
Encéfalo/patologia , Síndrome dos Cabelos Torcidos/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Artéria Cerebral Média/patologiaRESUMO
Acute adrenal haemorrhage (AAH) is a rare disorder with different aetiologies. Aiming to discuss this condition, this report deals with four different cases that will be analysed and examined below, each one of them confirmed by biopsy or surgery and followed clinically and radiologically. In these cases it was found that the patients suffered from localized abdominal pain (4/4) and fever (2/4); one patient had adrenal insufficiency due to bilateral massive AAH. Therefore we concluded that AAH is an uncommon condition with variable clinical manifestations.