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患儿女,6个月,第一胎足月顺产。生后即见躯干下部至两大腿上部呈大片状黑斑,2个月前全身又出现多数小片浅褐色斑,近5～6天抽搐,每日3～10次,发作时意识丧失,双眼斜视,右上下肢或四肢痉挛性抽动,持续3～5分钟,抽后嗜睡。体检:心肺正常,肝脾不大,头皮部有11处铜钱大小深黑色色素斑,稍高于皮肤。脐下、背部平第7胸椎水平下,外阴,臀部,至两大腿上1/2呈短裤状分布黑斑,高于皮肤,呈桔皮样,质软。右腰部有10×5.5cm乳头样病变。其右上方一处贰分硬币大小赘疣,呈暗红色。躯干四肢散在蚕豆至核桃大小之黑斑痣,质地同巨痣。面部、躯干、四肢多数绿豆至黄豆大小浅褐色色素沉着。表情呆滞。随物径视差,不会翻身及坐,给物不会取。实验室检查:血常规,血钙磷,血糖,血T_3、T_4均正常。脑脊液常规正常。脑电图于浅睡期出现阵发性高幅δ波
Children with children, 6 months, full-term first-term birth. After birth, see the lower torso to the upper part of the two thighs were large patches of dark spots, 2 months ago the body appeared again the majority of small brown spots, convulsions in the last 5 to 6 days, 3 to 10 times daily loss of consciousness at onset, eyes Strabismus, upper right or lower extremity spasm twitch, sustained 3 to 5 minutes, pumping lethargy. Physical examination: normal heart and lungs, liver and spleen is not large, the scalp 11 dark copper pigmented dark pigmentary spots, slightly above the skin. Under the umbilical, the back of the level of thoracic level 7, the vulva, buttocks, to the two thighs 1/2 was shorts-shaped distribution of dark spots above the skin, was orange-like, soft. The right waist with 10 × 5.5cm papillary lesions. The upper right of a second coin size warts, dark red. Trunk limbs scattered in the walnut-sized Vicia faba, texture with giant nevus. Face, trunk, limbs and most of the mung bean size light brown pigmentation. Dull expression. Parallax with the path of things, will not stand up and ride, to the material will not take. Laboratory tests: blood, blood calcium, blood glucose, blood T_3, T_4 were normal. Cerebrospinal fluid routine normal. EEG in the shallow sleep period paroxysmal high amplitude δ wave