[Familial cavernous angioma of the central nervous system--report of a family and review of literature].
In this paper we reported a familially occurred cavernous angiomas (CA) of the central nervous system (CNS). Case 1 was a 14-year-old female with an initial symptom of transient motor and sensory disorders of the right upper extremity. On examination she had a cutaneous angioma and no neurological deficit. CT and MRI revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA. Case 2 was a 45-year-old female, the mother of case 1, with a long standing headache. She had a cutaneous angioma and no neurological deficit. CT and MRI revealed a CA in the brain and a one in the cervical cord. Case 3 was an 11-year-old female, the cousin of case 1, with an initial symptom of left hemiparesis. On examination, she had a cutaneous angioma and left hemiparesis. CT revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA. Familial CA of the CNS is relatively rare and the reported cases were 24 families consisted of 70 cases. We analyzed the reported cases to clarify the specificities of the familial cases. In the familial cases, CAs were apt to be multiple and were located more frequently in the posterior fossa than in the non-familial cases. In some familial cases, the vascular anomalies of the CNS other than CA or CA of the skin or retina were also revealed. Because of high incidence (89%) of the hemorrhage from the histologically verified CA, operation should be carried out even in the cases of CA with mild or no symptom, if the lesion is accessible surgically.
Ohkuma
A
A
Department of Neurosurgery, Gifu Hospital, Japan.
Kuroda
T
T
Sugimoto
S
S
Iwama
T
T
Miwa
Y
Y
Sano
H
H
Kato
Y
Y
D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000235:genetics*; D002648:Child; D005192:Family Health; D005260:Female; D006392:Hemangioma, Cavernous / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D013120:Spinal Cord Neoplasms / Q000235:genetics