[Multiple and familial cavernous angiomas in the brain and extremities--case report].
This is a case report of intracranial multiple cavernous angioma occurred in a member of a lineage of familial cavernous angioma. This lineage had manifested multiple small angiomata in the extremities on seven members in her family. The patient, somewhat retarded 19-year-old woman, was admitted to Fukuoka University Hospital because of convulsive seizure and headache occurred several months before admission. She had a large head and her IQ was 71. Bilateral mild hearing disturbance and a vascular anomaly in the left eyeground were noted. There were multiple hypodermic nodules on four extremities. EEG showed spike and wave focus in the right parietal region with irregular background. Plain skull X-ray disclosed scattered small calcifications. CT scan revealed multiple high density areas in the bilateral cerebral hemispheres and splenium and cerebral angiograms presented avascular mass in the right parietal region. The tumor in the right parietal lobe which seemed to be epileptogenic focus and the hypodermic nodules of the upper extremities were removed. Pathological findings of intracranial mass and hypodermic nodule were similar, these were cavernous angioma. The mother and a younger brother of the patient had similar hypodermic nodules on the extremities, and brother's nodule was removed and confirmed cavernous angioma. Eight families of familial cavernous angioma were described in the literature. This presented case is a peculiar one on the view-point of occurrence in the central nervous system among the familial hypodermic manifestation on the extremities and coexistence of retinal vascular anomaly.
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Fukushima
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Ohkawa
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Tomonaga
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D001932:Brain Neoplasms / Q000235:genetics* / Q000601:surgery; D005260:Female; D006225:Hand; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000601:surgery; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D014057:Tomography, X-Ray Computed