High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

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 TajiriShouichi Ohga

研究成果: ジャーナルへの寄稿学術誌査読

2 被引用数 (Scopus)

抄録

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.

本文言語英語
論文番号2820
ジャーナルInternational journal of molecular sciences
25
5
DOI
出版ステータス出版済み - 3月 2024

!!!All Science Journal Classification (ASJC) codes

  • 触媒
  • 分子生物学
  • 分光学
  • コンピュータ サイエンスの応用
  • 物理化学および理論化学
  • 有機化学
  • 無機化学

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