Vlad Tocan, Akari Nakamura-Utsunomiya, Yuri Sonoda, Wakato Matsuoka, Soichi Mizuguchi, Yuichiro Muto, Takaaki Hijioka, Masao Nogami, Daiki Sasaoka, Fusa Nagamatsu, Utako Oba, Naonori Kawakubo, Hiroshi Hamada, Yuichi Mushimoto, Pin Fee Chong, Noriyuki Kaku, Yuhki Koga, Yasunari Sakai, Yoshinao Oda, Tatsuro Tajiri, Shouichi Ohga
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...
February 29, 2024: International Journal of Molecular Sciences