Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide
复制标题
DOI：
10.1542/peds.2015-1080
复制
发表时间：
2016-07-01
期刊：
影响因子：
8
通讯作者：
Paz-Priel, Ido
中科院分区：
文献类型：
--
作者：
Jacobson, Lisa A.;Rane, Shruti;Paz-Priel, Ido
快速起病的肥胖伴下丘脑功能障碍、低通气量和自主神经调节障碍(ROHHAD)是一种罕见的、通常是进行性的、具有潜在致命性的病因不明的综合征。该综合征的特征是正常发育，随后从学龄前阶段开始突然、迅速地增加体重，下丘脑功能障碍和中枢低通气量，通常伴随着个性变化和发育倒退，导致大量的发病率和死亡率。我们描述了2名在大剂量环磷酰胺治疗后症状和神经心理改善的儿童。我们的经验支持自身免疫发病机制，并首次提供了伴有下丘脑功能障碍、低通气量和自主神经失调的快速发作型肥胖症患者的神经心理学特征。
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality. We describe 2 children who had symptomatic and neuropsychological improvement after high-dose cyclophosphamide treatment. Our experience supports an autoimmune pathogenesis and provides the first neuropsychological profile of patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.