Anatoliotaki M, Tsilimigaki A, Tsekoura Th, Schinaki A, Stefanaki S, Nicolaidou P
Second Department of Paediatrics, Venizelion General Hospital, Heraklion, Crete, Greece.
Acta Paediatr. 2003;92(3):389-91. doi: 10.1080/08035250310009347.
A full-term male infant presented with clinical and biochemical findings consistent with the diagnosis of congenital rickets: weak muscle tone, craniotabes, episodes of tremor, hypocalcaemia, elevated serum alkaline phosphatase, secondary hyperparathyroidism, decreased 25-hydroxyvitamin D and normal 1,25-dihydroxyvitamin D serum levels. The mother's history and biochemical findings suggested nutritional vitamin D deficiency. Treatment with calcium and vitamin D resulted in the disappearance of clinical findings of rickets, normalization of the baby's biochemical profile and normal growth. It is surprising that this case occurred in an affluent setting, in the Mediterranean island of Crete, with an abundance of sunlight throughout the year.
We report this case in order to emphasize the continuing occurrence of congenital rickets even in populations not considered at risk for hypovitaminosis D. A high index of suspicion is required for prompt diagnosis and treatment, thus preventing complications.
一名足月儿男婴出现了与先天性佝偻病诊断相符的临床和生化检查结果:肌张力低下、颅骨软化、震颤发作、低钙血症、血清碱性磷酸酶升高、继发性甲状旁腺功能亢进、25-羟维生素D降低以及1,25-二羟维生素D血清水平正常。母亲的病史和生化检查结果提示营养性维生素D缺乏。给予钙和维生素D治疗后,佝偻病的临床症状消失,婴儿的生化指标恢复正常,生长发育正常。令人惊讶的是,该病例发生在富裕地区,即地中海的克里特岛,这里全年阳光充足。
我们报告此病例是为了强调即使在不被认为有维生素D缺乏风险的人群中,先天性佝偻病仍持续存在。需要高度怀疑指数以进行及时诊断和治疗,从而预防并发症。