High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome
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...
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MDPI AG
2024-02-01
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| Series: | International Journal of Molecular Sciences |
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| author | 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 |
| author_facet | 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 |
| author_sort | Vlad Tocan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T00:28:25Z |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-04-25T00:28:25Z |
| publishDate | 2024-02-01 |
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| spelling | doaj.art-fd88464472274fee93c273e3d3035c152024-03-12T16:46:27ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-02-01255282010.3390/ijms25052820High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation SyndromeVlad Tocan0Akari Nakamura-Utsunomiya1Yuri Sonoda2Wakato Matsuoka3Soichi Mizuguchi4Yuichiro Muto5Takaaki Hijioka6Masao Nogami7Daiki Sasaoka8Fusa Nagamatsu9Utako Oba10Naonori Kawakubo11Hiroshi Hamada12Yuichi Mushimoto13Pin Fee Chong14Noriyuki Kaku15Yuhki Koga16Yasunari Sakai17Yoshinao Oda18Tatsuro Tajiri19Shouichi Ohga20Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Genetic Medicine/Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8511, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto 861-8520, JapanDepartment of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto 861-8520, JapanDepartment of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto 861-8520, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanSevere 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.https://www.mdpi.com/1422-0067/25/5/2820ROHHAD syndromeanti-ZSCAN1 antibodiesautoimmune encephalitisparaneoplastic syndromeganglioneuroblastomasevere obesity |
| spellingShingle | 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 High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome International Journal of Molecular Sciences ROHHAD syndrome anti-ZSCAN1 antibodies autoimmune encephalitis paraneoplastic syndrome ganglioneuroblastoma severe obesity |
| title | High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome |
| title_full | High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome |
| title_fullStr | High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome |
| title_full_unstemmed | High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome |
| title_short | High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome |
| title_sort | high titer anti zscan1 antibodies in a toddler clinically diagnosed with apparent rapid onset obesity with hypothalamic dysfunction hypoventilation and autonomic dysregulation syndrome |
| topic | ROHHAD syndrome anti-ZSCAN1 antibodies autoimmune encephalitis paraneoplastic syndrome ganglioneuroblastoma severe obesity |
| url | https://www.mdpi.com/1422-0067/25/5/2820 |
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