Page S R, Nussey S S, Jenkins J S, Wilson S G, Johnson D A
Department of Medicine II, St. George's Hospital Medical School, London, UK.
Postgrad Med J. 1989 Mar;65(761):163-7. doi: 10.1136/pgmj.65.761.163.
We describe two cases of dysgenesis of the corpus callosum demonstrated by magnetic resonance. The first patient presented with chronic hyponatraemia. Investigation demonstrated re-setting of the osmoreceptor and thirst centres. The calculated threshold for arginine vasopressin (AVP) release was reduced at 252 mosmol/kg while severe thirst was perceived at a plasma osmolality of 260 mosmol/kg. Insulin-induced hypoglycaemia produced an exaggerated AVP response. The second patient presented with hypothermia. The calculated threshold of AVP release was 296 mosmol/kg with increased sensitivity of AVP response to hypertonic saline. The plasma AVP response to insulin-induced hypoglycaemia was absent. Both cases had normal anterior pituitary function and psychological assessment showed a similar prefrontal defect. Specific tests of callosal function were normal. These cases illustrate the importance of undertaking complete neuroradiological assessment of cases of unexplained hypothalamic disease regardless of the age of presentation to avoid overlooking this rare congenital association.
我们描述了两例经磁共振成像证实的胼胝体发育不全病例。首例患者表现为慢性低钠血症。检查显示渗透压感受器和口渴中枢重新设定。精氨酸加压素（AVP）释放的计算阈值降低至252毫摩尔/千克，而在血浆渗透压为260毫摩尔/千克时出现严重口渴。胰岛素诱导的低血糖产生了过度的AVP反应。第二例患者表现为体温过低。AVP释放的计算阈值为296毫摩尔/千克，AVP对高渗盐水的反应敏感性增加。对胰岛素诱导的低血糖无血浆AVP反应。两例患者垂体前叶功能均正常，心理评估显示存在类似的前额叶缺陷。胼胝体功能的特定测试正常。这些病例说明了对不明原因下丘脑疾病患者进行全面神经放射学评估的重要性，无论发病年龄如何，以避免忽视这种罕见的先天性关联。
