Neurofibromatosis Type 1 With Intracranial Hemorrhage and Horseshoe Kidney

作者:Jat Kana Ram; Marwaha Ram Kumar*; Panigrahi Inusha; Gupta Vivek
来源:Pediatric Neurology, 2008, 39(4): 295-297.
DOI:10.1016/j.pediatrneurol.2008.07.009

摘要

A 12-year-old boy presented with a history of sudden-onset vomiting, headache, and giddiness. Two members of his family manifested neurofibromatosis type 1. On examination, the child had multiple cafe-au-lait spots, bilateral axillary freckles, and Lisch nodules in both eyes. A central nervous system examination revealed raised intracranial pressure. Computed tomography of the cranium revealed an intracranial hemorrhage in the right parietal region, without a midline shift. Magnetic resonance imaging of the brain revealed a hemorrhage and a neurofibromatosis bright object. Magnetic resonance angiography and digital subtraction angiography revealed no evidence of arteriovenous malformation or aneurysm. Ultrasonography of the abdomen revealed a horseshoe kidney, as confirmed by a 99m technetium dimercaptosuccinic acid renal cortical scan. He responded to treatment for the raised intracranial pressure, and remained asymptomatic during follow-up.