Eyaid Wafaa M, Al-Nouri Doha M, Rashed Mohamed S, Al-Rifai Muhammad T, Al-Wakeel Anwar S
Pediatrics Department, King Abdulaziz Medical City, King Fahad National Guard Hospital, PO Box 22490, Riyadh 11426, Kingdom of Saudi Arabia.
Pediatr Neurol. 2005 Feb;32(2):134-6. doi: 10.1016/j.pediatrneurol.2004.07.010.
This case report profiles two children whose sole presentation is intractable seizures. The index case is a 1-year-old female. She presented to the emergency department with intractable seizures. Her initial metabolic evaluation was nonconclusive. Electroencephalogram was abnormal. Brain magnetic resonance imaging yielded a picture consistent with profound ischemic hypoxic injury. The second case was the 8-year-old brother of the index case. He suffered from intractable seizures since birth. On examination he was microcephalic with spastic quadriparesis and bilateral dislocation of lenses. Computed tomography of the brain revealed a low-density area in the white and cortical matter consistent with hypoxic-ischemic injury. His urinalysis for sulfocysteine produced findings consistent with isolated sulfite oxidase deficiency.
本病例报告介绍了两名仅表现为顽固性癫痫发作的儿童。首例病例为一名1岁女性。她因顽固性癫痫发作被送往急诊科。其初始代谢评估无明确结果。脑电图异常。脑磁共振成像显示的图像与严重缺血缺氧性损伤相符。第二例病例是首例病例的8岁哥哥。他自出生以来就患有顽固性癫痫发作。检查发现他小头畸形，伴有痉挛性四肢瘫和双侧晶状体脱位。脑部计算机断层扫描显示白质和皮质有低密度区，与缺氧缺血性损伤相符。他的尿亚硫酸盐半胱氨酸分析结果与孤立性亚硫酸盐氧化酶缺乏相符。
