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在新生儿时期对遗传性代谢性疾病的迅速诊断是必要的;早期诊断及治疗可以予防死亡或严重的神经病学的后果。本文强调二个新生儿的神经眼科学的所见,一为分支链酮氨基酸尿症(branched-chain keto-aminoaciduria),另一为非酮性高血糖症(nonketotic hyperglycinemia)。例一为足月顺产男婴,生后第7天,不发烧,食欲减退,嗜睡,前囱饱满。生后第20天,双眼睁开有双侧外斜视及内转不能超过中线,瞳孔如常。生后1个月,无上睑下垂,但有显著的双眼外斜视,偶有自动的侧向运动,但内转不超过中线。
Rapid diagnosis of hereditary metabolic diseases during the neonatal period is necessary; early diagnosis and treatment can prevent death or serious neurological consequences. This article highlights the findings of neuro-ophthalmology in two neonates, one is branched-chain keto-aminoaciduria and the other is nonketotic hyperglycinemia. One case of full-term baby boy, 7 days after birth, no fever, loss of appetite, lethargy, fullness before the chimney. 20 days after birth, his eyes opened with bilateral exotropia and internal rotation can not exceed the midline, pupil as usual. 1 month after birth, no ptosis, but significant binocular exotropia, occasional automatic lateral movement, but the transfer does not exceed the midline.