General Medicine, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India
Radiology, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India.
BMJ Case Rep. 2023 Mar 2;16(3):e253752. doi: 10.1136/bcr-2022-253752.
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.
一位 20 多岁的男性,此前曾多次出现短暂性意识丧失,主要归因于癫痫发作,现出现癫痫发作频率增加、高热和体重减轻的 1 个月病史。临床上,他出现姿势不稳、运动徐缓及双侧齿轮样强直。他的检查结果显示低钙血症、高磷血症、甲状旁腺激素完整但不适当正常、代谢性碱中毒、正常镁血症伴镁耗竭、血浆肾素活性和血清醛固酮浓度升高。脑部 CT 扫描显示基底节对称性钙化。患者患有原发性甲状旁腺功能减退症(HP)。他的哥哥有类似表现,提示为常染色体显性低钙血症伴 Bartter 综合征 5 型的遗传病因。患者的发热是由肺结核引起的噬血细胞性淋巴组织细胞增生症引起的,这触发了低钙血症的急性发作。本例代表了原发性 HP、维生素 D 缺乏症和急性应激因素之间复杂的多方面关系的相互作用。