Javad Hashim, Al-Yarubi Saif, Chacko Alexander P, Sankhla Dilip, Al-Futasi Amna, Abdelmogheth Anas A, El-Naggari Mohamed
Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Sultan Qaboos Univ Med J. 2013 Aug;13(3):E463-6. Epub 2013 Jun 25.
Holoprosencephaly (HPE) is a developmental defect of the embryonic forebrain and midface. It is due to the non-cleavage of the embryonic forebrain into two cerebral hemispheres and the incomplete development of the paramedian structures. The overall prevalence is 1.31 per 10,000 births. The aetiology could be genetic, environmental, or both. HPE is classified into alobar, semilobar, and lobar subtypes based on the degree of separation of the cerebral hemispheres. We report two new cases of semilobar HPE with neurogenic hypernatraemia. Lack of thirst and hypodypsia associated with chronic hypernatraemia in patients with HPE is highly suggestive of neurogenic hypernatraemia. Early identification of neurogenic hypernatraemia is important as it improves with forced fluid therapy and does not require any medication.
前脑无裂畸形（HPE）是胚胎前脑和中面部的一种发育缺陷。它是由于胚胎前脑未分裂成两个脑半球以及旁正中结构发育不完全所致。总体患病率为每10000例出生中有1.31例。病因可能是遗传、环境或两者兼有。根据脑半球分离程度，HPE分为无叶型、半叶型和叶型亚型。我们报告了两例伴有神经源性高钠血症的半叶型HPE新病例。HPE患者中与慢性高钠血症相关的口渴感缺失和饮水减少高度提示神经源性高钠血症。早期识别神经源性高钠血症很重要，因为通过强制补液治疗可改善病情，且无需任何药物治疗。
