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报告两兄弟患有肾上腺白质营养不良。先证者19岁,男性。18岁时以进行性记忆力减退及精神症状而发病。此后视力逐渐减退至失明。神经系统检查发现,烦躁不安,答非所问,双眼底乳头苍白及失明,四肢肌张力增加,腱反射亢进,双侧病理征阳性。口唇及乳晕有色素沉着。尿17KS 和17OHCS 减少。CT 显示在双侧邻近侧脑室三角区的顶枕区,有特征性、对称性的低密度灶,无增强。病后3年因进食困难、四肢瘫及精神错乱而死亡。先证者之兄,于18岁忠同样疾病,21岁因肾上腺功能不足及四肢瘫死亡。
Two brothers reported having adrenoleukodystrophy. The proband is 19 years old, male. Eighteen years old with progressive memory loss and mental symptoms and onset. Vision gradually diminished to blindness. Nervous system examination found that irritability, non-questioning, both eyes nipple pale and blindness, limb muscle tension increased, tendon hyperreflexia, positive bilateral pathology. Lip and areola pigmentation. Urine 17KS and 17OHCS reduced. CT showed in the bilateral triangle near the lateral roof of the occipital region, there are characteristic, symmetrical low-density lesions, no enhancement. Three years after the illness due to eating difficulties, limbs paralysis and mental disorders and death. The brother of proband, same disease at age 18, died of adrenal insufficiency at the age of 21 and limb paralysis.