Itokazu N, Tahara K, Inoue S, Sonoda T, Kodama T
Department of Pediatrics, Miyazaki Medical College.
No To Hattatsu. 1996 Jul;28(4):347-51.
A 13-year-old boy with superficial siderosis of the central nervous system was reported. There were many members, including the proband, with sensory high tone hearing loss in his maternal family, but they did not have other neurological symptoms. Paroxysmal and pulsatile severe headache, and vomiting without aura appeared recurrently at the age of 8. His consciousness was alert and no other abnormal sign or symptom was seen during the attacks. The electroencephalogram and cranial computed tomogram revealed no abnormality. The T2 weighted magnetic resonance image of the cranium showed a superficial low intensity zone on the cerebellar vermis, frontal and parietal lobes of the cerebrum, and cervical and upper portion of the thoracic spinal cord at the age of 12, when he had severe headache and vomiting. Cerebrospinal fluid showed xanthochromia with mild elevation of the protein level during an attack, and a light bloody appearance during the asymptomatic state. The diagnosis of superficial siderosis of the central nervous system was made by these findings of magnetic resonance image and cerebrospinal fluid. The bleeding sources to the subarachnoid space could not be detected by cerebral angiography.
报告了一名患有中枢神经系统浅表性铁沉积症的13岁男孩。在其母系家族中有许多成员,包括先证者,患有感觉性高调听力丧失,但他们没有其他神经系统症状。8岁时反复出现无先兆的阵发性搏动性严重头痛和呕吐。发作期间他意识清醒,未发现其他异常体征或症状。脑电图和头颅计算机断层扫描未显示异常。12岁时,当他出现严重头痛和呕吐时,头颅T2加权磁共振图像显示小脑蚓部、大脑额叶和顶叶以及颈髓和胸髓上部有浅表低强度区。发作期间脑脊液呈黄变,蛋白质水平轻度升高,无症状状态下呈淡血性外观。根据磁共振图像和脑脊液的这些发现,诊断为中枢神经系统浅表性铁沉积症。脑血管造影未检测到蛛网膜下腔的出血来源。