1例极罕见AICAR转化酶/IMP环水解酶缺乏症
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1.南京医科大学附属儿童医院儿保科;2.南京医科大学附属儿童医院影像科

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AICAR transformylase/IMP cyclohydrolase deficiency: Report of an extremely rare disease
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    摘要:

    报告1例极罕见AICAR转化酶/IMP环水解酶缺乏症(ATICD)患儿。女性3月龄患儿,显著低身长,特殊面容,面、臀、腰骶部皮肤多毛,双侧通贯手,四肢肌张力低,竖头、抬头差。表情呆滞,追声追物差,不能逗笑;主动脉狭窄,视神经萎缩,脑影像学异常;基因检测发现ATIC基因p.Gln184Ter和p.Lys426Arg复合杂合变异。目前ATICD全球报导仅4例,诊断有赖全面的基因检测。

    Abstract:

    To report one case of AICAR transformylase/IMP cyclohydrolase deficiency (ATICD). A 3-month-old female child has a significantly lower body length, facial abnormalities, hairy skin on the face, buttocks, and lumbosacral area, bilateral piercing hands, low extremities muscle tension, and poor head erection. She acted apathy and poor ability to chasing after objects; she was found aortic stenosis, optic nerve atrophy, and abnormal brain imaging; genetic testing found that the compound heterozygous ATIC mutations p.Gln184Ter and p.Lys426Arg in her. As far as we know, only 4 ATICD cases are now documented globally, and the diagnosis depends on the comprehensive genetic tests.

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  • 收稿日期:2021-11-04
  • 最后修改日期:2021-11-16
  • 录用日期:2021-11-22
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