Wang Yi, Xu Yingying, Xie Rongrong, Cao Bingyan, Ding Yuan, Guo Jiayun, Li Xiaoqiao, Ni Xiaolin, Yuan Zheng, Chen Linqi, Liang Liyang, Gong Chunxiu
1Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
2National Center for Children's Health, Beijing, China.
Endocr Connect. 2024 Oct 9;13(11). doi: 10.1530/EC-24-0189. Print 2024 Oct 1.
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is rare, and manifestations of autonomic dysregulation are diverse and may be overlooked. We aimed to evaluate the incidence of these manifestations.
Patients with ROHHAD syndrome reported before and after 2019 were divided into groups 1 and 2. Patients who were diagnosed at three regional hospitals in China were included in group 3. We collected the age of each specific term of the ROHHAD (neurogenic tumor, NET) acronym and the detailed manifestations of each term, and compared them among the three groups.
A total of 16 patients were diagnosed within the 2-year period. Two had neurogenic tumors and cognitive and behavioral abnormalities before developing rapid obesity. At least 93.8% of the patients had ≥ 4 symptoms of autonomic dysregulation. When comparing autonomic dysregulation among groups 1-3, the rates of cardiovascular manifestations were NA vs 12.8% vs 81.2%; gastrointestinal disturbances were 11.4% vs 8.5% vs 62.5%; strabismus was 25.7% vs 12.8% vs 62.5%; sleep disturbance was NA vs 6.4% vs 50.0%; and abnormal pain threshold was NA vs 10.6% vs 25.0% (all P < 0.05). The rates of cognitive and behavioral abnormalities were NA vs 29.8% and 87.5% (P < 0.01).
Rapid-onset obesity is not always the first sign of ROHHAD syndrome. Higher rates of autonomic dysregulation and cognitive and behavioral abnormalities with multiple manifestations of autonomic dysregulation coexisted in our cohort, indicating that evaluations of autonomic function and the limbic system should be strengthened when assessing this condition.
快速进展性肥胖伴通气不足、下丘脑功能障碍和自主神经调节异常（ROHHAD）较为罕见，自主神经调节异常的表现多样，可能被忽视。我们旨在评估这些表现的发生率。
2019年前后报告的ROHHAD综合征患者分为1组和2组。在中国三家区域医院确诊的患者纳入3组。我们收集了ROHHAD（神经源性肿瘤，NET）首字母缩写各特定术语出现时的年龄以及各术语的详细表现，并在三组之间进行比较。
在2年期间共诊断出16例患者。2例在出现快速肥胖之前有神经源性肿瘤以及认知和行为异常。至少93.8%的患者有≥4种自主神经调节异常症状。比较1 - 3组的自主神经调节异常情况时，心血管表现的发生率分别为无数据（NA）、12.8%、81.2%；胃肠道紊乱为11.4%、8.5%、62.5%；斜视是25.7%、12.8%、62.5%；睡眠障碍为无数据、6.4%、50.0%；疼痛阈值异常为无数据、10.6%、25.0%（所有P < 0.05）。认知和行为异常的发生率为无数据、29.8%、87.5%（P < 0.01）。
快速进展性肥胖并不总是ROHHAD综合征的首发症状。我们的队列中存在较高的自主神经调节异常发生率以及伴有多种自主神经调节异常表现的认知和行为异常，这表明在评估这种情况时应加强对自主神经功能和边缘系统的评估。
