假性甲状旁腺功能减退症1例

病例女,19岁。无明显诱因发作性行为异常8年,加重入院。入院查体：身高142cm,体重43kg,体态矮胖,鼻梁低平,两侧面神经叩击征（＋）,束臂加压试验（＋）,全部手指足趾屈曲,左无名指、右小指掌指关节发育异常,右足第四趾发育短。脑电图：尖慢综合波频发。否认颈部手术史,     

误诊为癫痫的假性甲状旁腺功能减退症Ia型1例并文献复习

目的 探讨假性甲状旁腺功能减退症患者的临床特征,提高对该病的认识,减少临床误诊率。方法 回顾性分析1例假性甲状旁腺功能减退症Ia型合并先天性甲状腺功能减退患儿的临床资料、诊疗经过并复习相关文献。结果 9周岁男童自幼曾诊为先天性甲状腺功能减退症,后因反复抽搐误诊为癫痫多年,实验室检查表现为低血钙、高血磷、高甲状旁腺激素,结合临床特征及基因测序结果,诊断为假性甲状旁腺功能减退症Ia型合并先天性甲状腺功能减退。给予补充钙剂及活性维生素D、左甲状腺素钠治疗,患者症状缓解。结论 假性甲状旁腺功能减退症是一种罕见的遗传性疾病。临床表现复杂,误诊率及漏诊率高。对不明原因癫痫的患儿应及早进行血钙、磷、甲状旁腺激素检测,以期早期发现、早期治疗。     

Pseudohypoparathyroidism type 1 B mimicking Fahr’s disease in a 28‐year‐old female: A case report

In virtue of precise clinical history, physical examinations, and biochemical/radiological investigations, pseudohypoparathyroidism can be effectively diagnosed, and its types can be differentiated even without exorbitant tests.     

Studies of Hypoparathyroidism and Pseudohypoparathyroidism

Twenty eight hypocalcaemic patients were studied, 14 with primaryhypoparathyroidism, nine with pseudohypoparathyroidism and twowith hypo-hyperparathyroidism, to characterize the essentialfeatures of these disorders. Like tetany, which was presentin 12 of the patients, epilepsy was a common symptom, occurringin 13, seven of whom had received anticonvulsants for two toeight years before hypocalcaemia was detected. Differentiation between primary and pseudohypoparathyroidismcould not be made with certainty on clinical grounds but confidentdistinction could be made by measurement of endogenous parathyroidhormone concentrations and by testing for renal resistance toexogenous parathyroid hormone. This was achieved by measurementof the plasma and, in some patients, the urinary cyclic AMPresponse to an intravenous injection of highly purified bovineparathyroid hormone. These investigations were also valuable in the assessment ofthe other three hypocalcaemic patients in whom a diagnosis ofparathyroid dysfunction would otherwise have been made. In 10 of the patients synthetic 1-hydroxylated forms of vitaminD were used to establish and maintain normocalcaemia, thoughtheir use required careful monitoring.     

Tuberculous lymphadenitis ‐ A case report

Although tuberculosis manifests mostly as a pulmonary disease, extrapulmonary presentations can occur and must be taken into consideration depending on the clinical setting.     

双阑尾手术切除一例

1病例资料 患者,男性,24岁。主因转移性右下腹疼痛6d加重4h入院。患者缘于6d前无明显诱因出现脐周疼痛,为阵发性疼痛,48h后疼痛转移至右下腹部,不向他处放射,     

Fontaine progeroid syndrome—A case report

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.