Granato Alessandra, Ryan Paul M, Wong Anthony, Hamilton Jill K, Danska Jayne S
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1H3, Canada.
Department of Paediatrics, University of Toronto, Toronto, ON, M5G 1X8, Canada.
JCEM Case Rep. 2024 Jun 3;2(6):luae091. doi: 10.1210/jcemcr/luae091. eCollection 2024 Jun.
Rapid onset obesity with hypoventilation, hypothalamic, and autonomic dysregulation (ROHHAD) syndrome in childhood is characterized by abrupt onset weight gain and dysautonomia with variable neuroendocrine involvement. In the absence of definitive disease-modifying therapies, the primary management strategy remains symptom control. This case report describes the first successful correction of obesity, dysautonomia, and metabolic derangement in a patient with ROHHAD following Roux-en-Y gastric bypass. Anthropometrics, metabolic profiling, and stool microbiome composition were assessed in a longitudinal fashion. In the 48-month period following surgery, the patient body mass index (BMI) reduced by 9.5 kg/m and metabolic status improved, evidenced in weaning of insulin, and improved glycated hemoglobin, lipid profile, and hepatic enzymes. Chronic diarrhea resolved after surgery and prior to significant weight loss. Evaluation of stool bacterial composition and biomass demonstrated shifts in absolute abundance and taxonomic composition in longitudinal samples following surgery. This case demonstrates the potential efficacy of bariatric surgery in correcting the metabolic disruption of ROHHAD syndrome, producing long-term changes in gut microbiome composition and biomass.
儿童快速进展性肥胖伴通气不足、下丘脑及自主神经调节障碍（ROHHAD）综合征的特征为体重突然增加和自主神经功能障碍，并伴有不同程度的神经内分泌受累。在缺乏明确的疾病改善疗法的情况下，主要治疗策略仍是控制症状。本病例报告描述了1例ROHHAD患者在接受Roux-en-Y胃旁路手术后，肥胖、自主神经功能障碍和代谢紊乱首次得到成功纠正。对人体测量学、代谢谱和粪便微生物群组成进行了纵向评估。术后48个月期间，患者体重指数（BMI）下降了9.5 kg/m²，代谢状况改善，表现为胰岛素停用、糖化血红蛋白、血脂谱和肝酶改善。慢性腹泻在术后且体重显著减轻之前得到缓解。对粪便细菌组成和生物量的评估表明，术后纵向样本中的绝对丰度和分类组成发生了变化。本病例证明了减肥手术在纠正ROHHAD综合征代谢紊乱方面的潜在疗效，可使肠道微生物群组成和生物量产生长期变化。
