患儿男,2岁半。因间断抽搐2年,皮肤出血2个月入院。生后8个月开始不规则强直阵挛抽搐,按婴儿痉挛症处理,仍有小发作。言语发育迟,1岁半只能说“妈妈”。近2个月出现两处皮肤缓慢出血,开始面积很小,逐渐向周围扩展,并结痂。父母健康。其姨表兄2岁起有惊厥及智力低下,皮肤散在色素脱失斑,现16岁为痴呆儿。 Children male, 2 years and a half. Due to intermittent seizures 2 years, skin bleeding 2 months admitted. 8 months after birth began irregular tonic clonic seizures, according to infantile spasms, there are still minor attacks. Late speech development, 1 year and a half can only say “Mom ”. Nearly two months there are two slow bleeding skin, starting small area, gradually expanded to the surrounding and scab. Parents health. His aunt cousin since the age of 2 had convulsions and mental retardation, the skin scattered pigment depigmentation spots, now 16-year-old for children with dementia.