PDF(Pubmed)
Abstract：
A man in his 20s who had previously experienced multiple episodes of transient loss of consciousness, majorly attributable to the seizures, presented with a 1-month history of increased seizure frequency, high-grade fever and weight loss. Clinically, he had postural instability, bradykinesia and symmetrical cogwheel rigidity. His investigations revealed hypocalcaemia, hyperphosphataemia, inappropriately normal intact parathyroid hormone, metabolic alkalosis, normomagnesemic magnesium depletion, and increased plasma renin activity and serum aldosterone concentration. CT scan of the brain revealed symmetrical calcification of the basal ganglia. The patient had primary hypoparathyroidism (HP). A similar presentation of his brother indicated a genetic cause, most likely autosomal dominant hypocalcaemia with Bartter\'s syndrome type 5. The patient\'s fever was caused by underlying haemophagocytic lymphohistiocytosis secondary to pulmonary tuberculosis, which triggered acute episodes of hypocalcaemia. This case represents a complex interplay of a multifaceted relationship between primary HP, vitamin D deficiency and an acute stressor.
摘要：
一个20多岁的男人，以前经历过多次短暂的意识丧失，主要归因于缉获，有1个月的癫痫发作频率增加的病史，高烧和减肥。临床上,他有姿势不稳定，运动迟缓和对称齿轮刚度。他的调查显示低钙血症,高磷酸盐血症,不适当的正常完整的甲状旁腺激素，代谢性碱中毒，正常镁缺乏，血浆肾素活性和血清醛固酮浓度升高。脑部CT扫描显示基底神经节对称钙化。患者患有原发性甲状旁腺功能减退症（HP）。他兄弟的类似介绍表明了遗传原因，最有可能的常染色体显性遗传低钙血症伴Bartter综合征5型。患者的发热是由继发于肺结核的噬血细胞性淋巴组织细胞增多症引起的，引发了低钙血症的急性发作。这种情况代表了主要HP之间多方面关系的复杂相互作用，维生素D缺乏和急性应激源。
