[Klinefelter syndrome accompanied by hypoplasia of the bilateral internal carotid arteries--a case report].

The patient was a 31-year-old male who was admitted to our hospital due to slowly progressive weakness of the right upper limb and both lower limbs. Physical examination showed a tall stature, gynecomastia, feminine pubic hair, small penis and small testis. His intellectual function on the Kohs-cubic test scored 85, on the WAIS scored performance 80, verbal 74 and full scale 78. He showed BE mixed type in YG personality test and neurotic in CMI. No abnormalities were observed except for severe weakness of the right upper limb, moderate weakness of the bilateral lower limbs and hypalgesia in the limbs. Clinical laboratory tests revealed low blood and urinary testosterone levels, and a high blood gonadotropin level. Cytogenetic studies showed a 47, XXY karyotype. On neuroradiological examinations, there were small bilateral carotid canals in CT scan and multiple long T2 lesions in MRI. Angiography showed hypoplasia of the bilateral internal carotid arteries and dilatation of the bilateral vertebral arteries. The results of activity measurements of affected limbs using actigraph indicated that a conversion type hysteria had resulted in weakness of the limbs. There is no report of Klinefelter syndrome accompanied by the hypoplasia of bilateral internal carotid arteries, and the condition is considered to be extremely rare.