Sithra R, Sheila G K, Safwan N, Siah W P, Fadilah W I, Zurina Z
Universiti Putra Malaysia, Faculty of Medicine and Health Sciences, Department of Paediatrics, Serdang, Selangor, Malaysia.
Hospital Seri Manjung, Department of Paediatrics, Manjung, Perak, Malaysia.
Med J Malaysia. 2022 Mar;77(2):271-273.
DiGeorge syndrome is a genetic disorder that is related to a wide range of defects affecting various parts of the body. The clinical expression shows marked variability making the diagnosis often missed or underdiagnosed. Here, we describe a neonate who presented with loud inspiratory stridor secondary to hypocalcaemia at birth. Physical examination revealed no abnormality other than evidence of congenital cardiac defect. Laboratory evaluations confirmed the diagnosis of maternal vitamin D deficiency that led to symptomatic hypocalcaemia in the newborn infant. The presence of hypocalcaemia coupled with episodes of recurrent infections led to the clinical suspicion of DiGeorge, which was later confirmed by fluorescence in situ hybridisation test.
迪乔治综合征是一种遗传性疾病，与影响身体各个部位的多种缺陷有关。临床表现差异很大，常导致诊断遗漏或诊断不足。在此，我们描述一名新生儿，出生时因低钙血症出现响亮的吸气性喘鸣。体格检查除先天性心脏缺陷外未发现其他异常。实验室检查证实母亲维生素D缺乏导致新生儿出现症状性低钙血症。低钙血症的存在以及反复感染发作导致临床怀疑为迪乔治综合征，后来通过荧光原位杂交试验得以确诊。
