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1病历摘要患儿女,9岁。因躯干部出现咖啡斑8年,突发意识障碍12h,诊断为脑室内出血于2010年3月21日入我院神经外科治疗。患儿1周岁后即在躯干部出现散在咖啡斑,随年龄增长斑片逐渐增多,无自觉症状。家族史:父母非近亲结婚,其父有神经纤维瘤病史。患儿父亲自幼全身色素沉着斑,约14岁时躯干部出现大小不等的皮肤肿块,皮损逐渐增多增大(图1)。同时伴有学习障碍及智力低下。全身皮肤较松弛,躯干可见数十个豌豆至鸽蛋大悬垂状肿块,质地柔软,触之可凹陷,如布袋感,无压痛。其间散在雀斑
1 medical records with children, 9 years old. Because of the trunk appeared coffee stains for 8 years, sudden disturbance of consciousness 12h, diagnosed as intraventricular hemorrhage in March 21, 2010 into our hospital neurosurgical treatment. 1 year old children in the trunk appeared scattered coffee stains, with increasing age patch gradually increased, no symptoms. Family history: parents marry non-relatives, his father has a history of neurofibromatosis. Childhood children with whole body pigmentation of his childhood, about 14 years old torso appeared in the skin of varying sizes, skin lesions gradually increased and increased (Figure 1). Accompanied by learning disabilities and mental retardation. Whole body skin is more relaxed, the trunk can be seen dozens of peas to the pigeon egg hanging mass, soft texture, touch can be recessed, such as the sense of cloth bag, no tenderness. During the scattered freckles