Tocan Vlad, Nakamura-Utsunomiya Akari, Sonoda Yuri, Matsuoka Wakato, Mizuguchi Soichi, Muto Yuichiro, Hijioka Takaaki, Nogami Masao, Sasaoka Daiki, Nagamatsu Fusa, Oba Utako, Kawakubo Naonori, Hamada Hiroshi, Mushimoto Yuichi, Chong Pin Fee, Kaku Noriyuki, Koga Yuhki, Sakai Yasunari, Oda Yoshinao, Tajiri Tatsuro, Ohga Shouichi
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
Department of Genetic Medicine/Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8511, Japan.
Int J Mol Sci. 2024 Feb 29;25(5):2820. doi: 10.3390/ijms25052820.
Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorder characterized by rapid-onset obesity associated with hypoventilation, neural crest tumors, and endocrine and behavioral abnormalities. The etiology of ROHHAD syndrome remains to be established, but recent research has been focusing on autoimmunity. We report on a 2-year-old girl with rapid-onset obesity during the first year of life who progressed to hypoventilation and encephalitis in less than four months since the start of accelerated weight gain. The patient had a high titer of anti-ZSCAN1 antibodies (348; reference range < 40), and the increased values did not decline after acute phase treatment. Other encephalitis-related antibodies, such as the anti-NDMA antibody, were not detected. The rapid progression from obesity onset to central hypoventilation with encephalitis warns about the severe consequences of early-onset ROHHAD syndrome. These data indicate that serial measurements of anti-ZSCAN1 antibodies might be useful for the diagnosis and estimation of disease severity. Further research is needed to determine whether it can predict the clinical course of ROHHAD syndrome and whether there is any difference in antibody production between patients with and without tumors.
幼儿严重肥胖需要进行鉴别诊断，其中包括综合征性疾病。快速发作性肥胖伴下丘脑功能障碍、低通气和自主神经失调（ROHHAD）综合征是一种潜在致命性疾病，其特征为快速发作性肥胖，并伴有低通气、神经嵴肿瘤以及内分泌和行为异常。ROHHAD综合征的病因尚待明确，但近期研究一直聚焦于自身免疫。我们报告了一名2岁女童，其在出生后第一年出现快速发作性肥胖，自体重加速增加开始起不到四个月内进展为低通气和脑炎。该患者抗ZSCAN1抗体滴度很高（348；参考范围<40），急性期治疗后该升高值并未下降。未检测到其他与脑炎相关的抗体，如抗NMDA抗体。从肥胖发作迅速进展为伴有脑炎的中枢性低通气警示了早发性ROHHAD综合征的严重后果。这些数据表明，连续检测抗ZSCAN1抗体可能有助于诊断和评估疾病严重程度。需要进一步研究以确定其是否能够预测ROHHAD综合征的临床病程，以及有肿瘤和无肿瘤患者在抗体产生方面是否存在差异。
