自闭症谱系障碍和减弱辅因子缺乏A型的长期存活:来自沙特阿拉伯的病例报告
Abdulkarim O Alanazi1, Nouf F Alshammari2, Waleed Alsuhibani2
1Department of Psychiatry, Prince Sultan Military Medical City, Riyadh, SAU.
Cureus
|February 9, 2026
概括
一个18岁的男性呈现出衰弱的表型,包括发育迟缓和自闭症谱系障碍. 这一案例凸显了代谢测试对于这种复杂的神经发育表现的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 甲型辅因子缺乏症 (MoCD-A) 是一种罕见的遗传疾病.
- 它通常在婴儿期表现为严重的神经功能障碍.
研究的目的:
- 在18岁的男性中报告MoCD-A病例的非典型,减弱的表型.
- 描述神经精神病学的特征,并扩大对MoCD-A临床谱的理解.
主要方法:
- 基因检测证实了同卵性致病性MOCS1变种.
- 临床评估包括神经成像和代谢测试 (尿液中的桑提因,低桑提因,S-硫类固醇).
主要成果:
- 患者呈现低血压,发育迟缓,,保持运动功能,低于平均水平的认知能力,言语迟缓,自闭症谱系障碍和注意力不集中症状.
- 代谢测试表明硫酸盐氧化酶活性受损.
- 神经成像显示了小的基底腺低密度,没有进展.
结论:
- 这种情况表明MoCD-A表型减弱,并存活到成年.
- 它强调了需要考虑重叠的发育和行为问题患者的代谢障碍的必要性.
- 详细的神经精神病学表征对于理解MoCD-A的全谱至关重要.
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