RESUMEN
Introduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas, renal clear cell carcinomas, and pheochromocytomas. Case Report. A 23-year-old female had a syncope episode in 2008. Magnetic resonance imaging (MRI) revealed a right temporal hemangioblastoma, which was treated surgically. Genetic screening identified a VHL gene mutation, and computed tomography (CT) revealed a left adrenal mass. Since it was unclear whether the mass was a pheochromocytoma, or another benign or malignant tumors, laparoscopic adrenalectomy was performed. A month after surgery, the patient complained of general fatigue, poor concentration, loss of appetite, and insomnia. After careful clinical investigation, the patient was referred to a psychiatrist due to suspected depression, which was confirmed. Conclusions. VHL genetic screening should be performed in cases of hemangioblastoma. In VHL syndrome cases, pheochromocytoma cannot always be diagnosed by biochemical catecholamine analyses; therefore, CT or MRI scanning of the abdomen must be performed. Due to the long treatment period, some patients may develop episodes of depression, which can simulate VHL syndrome.
RESUMEN
Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still needs to consider it as a probable diagnosis in a newborn with coagulopathy. We report here a case of Factor VII deficiency in a newborn who presented with subdural haemorrhage at day 4 of life.