Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney.
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 café-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.
Jat
Kana Ram
KR
Department of Pediatrics, Advanced Pediatric Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Marwaha
Ram Kumar
RK
Panigrahi
Inusha
I
Gupta
Vivek
V
D002533:Cerebral Angiography / Q000379:methods; D002648:Child; D006801:Humans; D020300:Intracranial Hemorrhages / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography