Diabetes & Endocrinology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Cardiology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.
BMJ Case Rep. 2022 May 20;15(5):e250350. doi: 10.1136/bcr-2022-250350.
Genetic causes of hypocalcaemia can be overlooked in patients who present without apparent syndromic features. One relatively common but under-recognised genetic disorder is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood. Its enigmatic diagnosis can be attributed to its broad heterogeneous clinical presentation, such as the absence of cardiac abnormalities with only subtly abnormal facies. The presence of hypoparathyroidism-related hypocalcaemia may be the first early sign. We describe a young female adult with childhood-onset hypocalcaemia who was diagnosed with DiGeorge syndrome during her pregnancy when the fetus was found to have the same condition on antenatal screening and autopsy. This case reminds clinicians to consider the genetic causes of hypoparathyroidism-induced hypocalcaemia early on in childhood, while acknowledging the possibility of a late diagnosis in adulthood. We also highlight the risks of severe hypocalcaemia in pregnancy and outline a systematic approach to the evaluation of chronic hypocalcaemia.
低钙血症的遗传原因可能会被忽视在那些没有明显综合征特征的患者中。一种相对常见但认识不足的遗传性疾病是 DiGeorge 综合征，它通常在儿童期诊断，但在成年期很少见。其神秘的诊断可以归因于其广泛的异质性临床表现，例如只有细微异常的面容而没有心脏异常。甲状旁腺功能减退相关的低钙血症的存在可能是第一个早期迹象。我们描述了一名年轻成年女性，她在儿童时期就出现低钙血症，在怀孕期间，胎儿在产前筛查和尸检中发现了同样的情况，被诊断为 DiGeorge 综合征。这个病例提醒临床医生要早期考虑甲状旁腺功能减退引起的低钙血症的遗传原因，同时也要认识到在成年期可能会有晚期诊断的可能性。我们还强调了妊娠期间严重低钙血症的风险，并概述了慢性低钙血症的评估方法。
