The clinical, laboratory, and other features of 16 children with congenital intracranial vascular malformations seen over a period of 15 years are presented. 13 patients had an arteriovenous (AV) malformation, 2 patients an aneurysm of the vein of Galen, and 1 a congenital internal carotid/internal jugular fistula. Based on onset of symptoms the patients ranged in age from 3 months to 16 years with an average age of 7½ years; however, 5 patients had their first clinical manifestation before 6 years of age. Unfortunately, definitive diagnosis could not be made until an average of 15½ years.
The most important clinical manifestations were focal or generalized seizures and spontaneous intracranial bleeding, each occurring in 6 patients. Of 2 patients who presented with hydrocephalus, 1 had had an unexplained episode of cardiac failure during infancy. Inequality in the size of the legs, and periodic headaches were the initial manifestations in 2 other patients. Analysis of this series of patients with intracranial AV malformations suggests the following diagnostic recommendations: careful auscultation of the skull for bruits should be performed in all infants and children with cardiac failure of unknown aetiology; patients with focal seizures refractory to anticonvulsant therapy should be re-examined at frequent intervals to detect focal neurological deficit which otherwise may go unnoticed; and, finally, patients with a seizure disorder who develop focal signs of neurological deficit deserve a complete diagnostic investigation, including contrast studies.
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↵* Some of the studies described were supported in part by grant No. C-73 from The National Foundation supporting the Clinical Study for Birth Defects and by grant No. 2 MO1 RR00062-08 from The National Institutes of Health supporting the Clinical Research Center, both located at the Children's Memorial Hospital.