Li Juan, Jia Hongwei, Chakraborty Anindita, Gao Zhihong
Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.
Neuro Endocrinol Lett. 2016 Dec;37(7):469-472.
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99.9 mmol/L. However, the cause of hyponatremia has not been further discussed. The patient had short stature and no pubertal development. The laboratory tests revealed growth hormone deficiency, secondary adrenal insufficiency, hypothyroidism and hypogonadotropic hypogonadism. MRI showed an ectopic hyperintense signal of the posterior pituitary and no visible anterior pituitary gland or stalk. The hormone replacement therapy helped to raise the sodium concentration to a normal level and in the termination of seizures.
垂体柄阻断综合征（PSIS）是一种先天性疾病，伴有孤立性生长激素缺乏（GHD）或多发性垂体前叶激素缺乏（MPHD）。PSIS的典型临床表现为生长发育迟缓、低血糖或青春期发育延迟。然而，鲜有报道称PSIS患者被诊断为伴有低钠血症的急性癫痫发作。在此，我们报告一名18岁女性，有13年间歇性癫痫发作史。多次电解质检查显示低钠血症，甚至低至99.9 mmol/L。然而，低钠血症的病因尚未进一步探讨。患者身材矮小，未出现青春期发育。实验室检查显示生长激素缺乏、继发性肾上腺功能不全、甲状腺功能减退和低促性腺激素性性腺功能减退。MRI显示垂体后叶异位高信号，未见明显的垂体前叶或垂体柄。激素替代疗法有助于将钠浓度提高到正常水平并终止癫痫发作。
