Xu Ziheng, Masters Ian Brent, Barbaro Pasquale, Miller Stephen, Kapur Nitin
Griffith University South Brisbane Queensland Australia.
Queensland Children's Hospital South Brisbane Queensland Australia.
Clin Case Rep. 2022 Jul 25;10(7):e6111. doi: 10.1002/ccr3.6111. eCollection 2022 Jul.
We report a child with persistently low oxygen saturations (SpO 90%-92%) [normal SpO > 98%], with delayed diagnosis due to the co-existing congenital pulmonary airway malformation with possible arterio-venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I-Toulouse, making both patients the first reported cases with low oxygen saturations.
我们报告了一名儿童，其氧饱和度持续偏低（SpO₂ 90%-92%）[正常SpO₂>98%]，由于并存先天性肺气道畸形且可能存在动静脉畸形，导致诊断延迟。直到从孩子父亲身上偶然发现低氧饱和度后才得以确诊。最终病因是图卢兹血红蛋白I，这使得这两名患者成为首例有低氧饱和度报道的病例。
