Internal medicine
-
Von Hippel-Lindau (VHL) syndrome is a neoplastic syndrome caused by a mutation in the VHL gene. There is a discrepancy between the phenotypes of human VHL syndrome and VHL gene-disrupted mouse models. ⋯ We identified a novel mutation (P154S) in the VHL gene in a Japanese family with pheochromocytoma. One of the members demonstrated hepatic hemangiomas, suggesting that there may be a relationship between the mutation of the VHL gene and hepatic vascular lesions, even in humans.
-
A 24-year-old pregnant woman with Marfan's syndrome delivered by cesarean section during the 38th week of gestation. Although aortic root dilatation did not increase during pregnancy, three months after delivery, the patient noticed a pulsatile abdominal mass. Aortic aneurysm was diagnosed and surgical replacement of the infrarenal abdominal aorta to the common iliac arteries and reconstruction of the inferior mesenteric artery were performed. Moreover, the patient subsequently developed a Stanford type B thoracic aortic dissection, even after more than four months of beta-blockade.
-
We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
-
We describe a rare case of spontaneous middle cerebral artery (MCA) dissection that caused cerebral infarction and subarachnoid hemorrhage (SAH), which also presented with a hyperdense artery sign. A hyperdense artery sign of the MCA in acute cerebral infarction strongly indicates thromboembolic MCA occlusion, which is often treated with thrombolytic therapy. However, thrombolytic therapy for intracranial artery dissections has both risks and benefits, due to the association of artery dissections with SAH. Therefore, it is important to keep in mind that an MCA dissection can also cause cerebral infarction with a hyperdense artery sign, particularly in young patients presenting with headache.