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患儿,女,8岁,因右上肢抽搐3、4天入院。无头痛、呕吐,出生后皮肤即有浅棕色色素斑,2岁会走路,智力落后,至今不会做简单加法。其父母皮肤正常。体检:全身皮肤除面部外均可见大小不一数十个浅棕色“咖啡牛奶斑”,两侧腋窝处成“雀斑”样成簇表现。无皮下结节。血压14.4/8.0kPa。脑电图为局灶性阵发性棘波,棘慢波。眼底正常,颅骨X线正常,
Children, female, 8 years old, admitted to hospital for convulsions on the right upper limb for 3,4 days. No headache, vomiting, skin after birth that is light brown pigmentation spots, 2-year-old will walk, mental retardation, so far will not do a simple addition. Their parents have normal skin. Physical examination: In addition to the whole body except the face of the skin can see the size of dozens of light brown “coffee milk spots” on both sides of the armpit as “freckles” like clustering performance. No subcutaneous nodules. Blood pressure 14.4 / 8.0kPa. EEG is focal paroxysmal spikes, spikes and waves. Fundus normal, normal skull X-ray,