Pita Rita M, Martins Marta O, Ferraz Ana, Henriques Raquel
Neonatology Department, Maternidade Daniel de Matos, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Cureus. 2024 Nov 15;16(11):e73730. doi: 10.7759/cureus.73730. eCollection 2024 Nov.
Craniotabes is characterized by the softening of skull bones in newborns. It can be associated with conditions like rickets, congenital syphilis, and osteogenesis imperfecta. In otherwise healthy newborns, craniotabes is often linked to in utero vitamin D deficiency. We report four cases of term infants diagnosed with craniotabes at birth. For all cases, laboratory tests confirmed vitamin D deficiency with serum 25-hydroxyvitamin D levels below 20 ng/mL, alongside maternal vitamin D deficiency. While three cases showed no complications, one newborn had a skull fracture and a neonatal stroke. All infants were supplemented with oral cholecalciferol, resulting in the normalization of serum 25-hydroxyvitamin D levels and resolution of the skull softening. These cases highlight the critical role of maternal vitamin D levels in fetal bone development and the potential risks of its deficiency. Although craniotabes associated with maternal vitamin D deficiency is a known condition among neonatologists, these cases help to increase awareness of this diagnosis. We highlight the need for thorough clinical examination, along with complementary diagnostic tests, to identify any related complications.
颅骨软化症的特征是新生儿颅骨骨骼软化。它可能与佝偻病、先天性梅毒和成骨不全等病症有关。在其他方面健康的新生儿中，颅骨软化症通常与子宫内维生素D缺乏有关。我们报告了4例足月婴儿出生时被诊断为颅骨软化症的病例。对于所有病例，实验室检查均证实维生素D缺乏，血清25-羟维生素D水平低于20 ng/mL，同时母亲也存在维生素D缺乏。虽然3例未出现并发症，但有1例新生儿发生了颅骨骨折和新生儿中风。所有婴儿均补充了口服胆钙化醇，血清25-羟维生素D水平恢复正常，颅骨软化症得以缓解。这些病例突出了母亲维生素D水平在胎儿骨骼发育中的关键作用及其缺乏的潜在风险。尽管新生儿科医生已知与母亲维生素D缺乏相关的颅骨软化症，但这些病例有助于提高对该诊断的认识。我们强调需要进行全面的临床检查以及辅助诊断测试，以识别任何相关并发症。
