Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.
Progeria, a rare genetic disorder, is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery and cerebrovascular disease. There has been no detailed description of progressive cerebrovascular changes in progeria or any attempted neurologic correlation of those changes. A 5-year-old boy developed signs of progeria at 4 months and hypertension at 4 years, treated with atenolol and dipyridamole. Left-sided seizures with a left hemiparesis occurred at 5 years. Magnetic resonance imaging (MRI) showed bilateral acute, subacute, and chronic cerebral infarctions. Magnetic resonance angiography disclosed severe stenosis of the left internal carotid artery. The child was also found to have an aortic valve vegetation and was anticoagulated. He subsequently developed right-sided seizures, and treatment with gabapentin was started. Later, severe stenosis also of the right internal carotid artery was found. MRI showed new left cerebral infarction. The child's neurologic symptoms almost certainly were caused by cerebral infarctions from progressive atherosclerosis of major intracranial vessels, but clinical-neuroradiologic correlations were imprecise. There were multiple cerebral infarctions of different ages, some asymptomatic, others ipsilateral to the child's neurologic findings. No therapy has halted progression of the child's cerebrovascular disease.
Rosman
N P
NP
Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children, New England Medical Center, Boston, Massachusetts 02111, USA. prosman@lifespan.org
Anselm
I
I
Bhadelia
R A
RA
D001921:Brain / Q000473:pathology; D002343:Carotid Artery, Internal / Q000473:pathology; D016893:Carotid Stenosis / Q000175:diagnosis* / Q000235:genetics; D002544:Cerebral Infarction / Q000175:diagnosis* / Q000235:genetics; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D002537:Intracranial Arteriosclerosis / Q000175:diagnosis / Q000235:genetics; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics