Clinical features of ROHHAD syndrome and treatment outcomes following rituximab therapy: a descriptive case series of Chinese children
- 1Department of Pediatrics, Peking University First Hospital, Beijing, China
- 2Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
- 3Department of Pediatrics, PKUFH-NINGXIA Women & Children’s Hospital, Yinchuan, China
Abstract
ObjectiveWe aimed to delineate the clinical phenotypes and symptom evolution of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome in Chinese children and to evaluate the real-world efficacy of rituximab therapy.MethodsWe retrospectively reviewed the medical records of seven children diagnosed with ROHHAD syndrome between 2010 and 2025. Clinical data on baseline characteristics, core symptoms, tumor status, and therapeutic responses were extracted and analyzed using descriptive statistics.ResultsAmong the 7 patients, there were 3 males and 4 females. The median age of onset was 2.8 years (2.0–7.9 years), and the median age at diagnosis was 3.8 years (3.5–8.5 years). The median diagnostic delay was 1.2 years (range, 0.5–3.6 years). All patients exhibited the triad of rapid-onset obesity, hypothalamic dysfunction, and autonomic dysregulation. The median ages of onset for obesity, hypothalamic dysfunction, and autonomic dysregulation were 3.2, 3.1, and 3.4 years, respectively. Neuropsychiatric abnormalities were universal (7/7, 100%), emerging concurrently with or shortly after weight gain. Central hypoventilation was observed in 5 patients (71.4%). Neural crest-derived tumors were found in 4 patients (57.1%). Cardiac involvement was present in 4 patients (57.1%), with 3 cases developing severe heart failure. All patients had neurological abnormalities, with 2 cases accompanied by epileptic seizures. Interleukin-6 (IL-6) levels were tested in 4 patients, with elevation in 2 cases. Six patients received first-line immunotherapy (corticosteroids/intravenous immunoglobulin) with poor response. Three patients received rituximab; all showed transient initial improvement but ultimately experienced relentless disease progression, and one patient died. The overall prognosis was poor: one death, one vegetative state, and progressive disease in the remaining 5 patients.ConclusionROHHAD syndrome presents with highly heterogeneous clinical manifestations. Neuropsychiatric abnormalities may occur in parallel with or closely following rapid-onset obesity. Unexplained obesity and neuropsychiatric abnormalities in young children should raise high suspicion for this syndrome. Such patients warrant routine multidisciplinary monitoring. In the three patients who received rituximab, clinical responses were variable and transient, with no sustained long-term improvement observed. However, due to the small sample size and heterogeneous treatment protocols, no definitive conclusion regarding rituximab efficacy can be drawn.
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BibTeX
@article{song2026clinical,
title = {{Clinical features of ROHHAD syndrome and treatment outcomes following rituximab therapy: a descriptive case series of Chinese children}},
author = {Danyu Song and Xingzhi Chang and Yao Zhang and Ye Wu and Weihua Zhang and Jiuwei Li and Taoyun Ji and Taoyun Ji},
journal = {Frontiers in Pediatrics},
year = {2026},
month = oct,
doi = {10.3389/fped.2026.1960692},
url = {https://doi.org/10.3389/fped.2026.1960692},
note = {CC BY},
}
RIS
TY - JOUR
TI - Clinical features of ROHHAD syndrome and treatment outcomes following rituximab therapy: a descriptive case series of Chinese children
AU - Danyu Song
AU - Xingzhi Chang
AU - Yao Zhang
AU - Ye Wu
AU - Weihua Zhang
AU - Jiuwei Li
AU - Taoyun Ji
AU - Taoyun Ji
PY - 2026
DA - 2026/10/26
JO - Frontiers in Pediatrics
DO - 10.3389/fped.2026.1960692
UR - https://doi.org/10.3389/fped.2026.1960692
AB - ObjectiveWe aimed to delineate the clinical phenotypes and symptom evolution of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome in Chinese children and to evaluate the real-world efficacy of rituximab therapy.MethodsWe retrospectively reviewed the medical records of seven children diagnosed with ROHHAD syndrome between 2010 and 2025. Clinical data on baseline characteristics, core symptoms, tumor status, and therapeutic responses were extracted and analyzed using descriptive statistics.ResultsAmong the 7 patients, there were 3 males and 4 females. The median age of onset was 2.8 years (2.0–7.9 years), and the median age at diagnosis was 3.8 years (3.5–8.5 years). The median diagnostic delay was 1.2 years (range, 0.5–3.6 years). All patients exhibited the triad of rapid-onset obesity, hypothalamic dysfunction, and autonomic dysregulation. The median ages of onset for obesity, hypothalamic dysfunction, and autonomic dysregulation were 3.2, 3.1, and 3.4 years, respectively. Neuropsychiatric abnormalities were universal (7/7, 100%), emerging concurrently with or shortly after weight gain. Central hypoventilation was observed in 5 patients (71.4%). Neural crest-derived tumors were found in 4 patients (57.1%). Cardiac involvement was present in 4 patients (57.1%), with 3 cases developing severe heart failure. All patients had neurological abnormalities, with 2 cases accompanied by epileptic seizures. Interleukin-6 (IL-6) levels were tested in 4 patients, with elevation in 2 cases. Six patients received first-line immunotherapy (corticosteroids/intravenous immunoglobulin) with poor response. Three patients received rituximab; all showed transient initial improvement but ultimately experienced relentless disease progression, and one patient died. The overall prognosis was poor: one death, one vegetative state, and progressive disease in the remaining 5 patients.ConclusionROHHAD syndrome presents with highly heterogeneous clinical manifestations. Neuropsychiatric abnormalities may occur in parallel with or closely following rapid-onset obesity. Unexplained obesity and neuropsychiatric abnormalities in young children should raise high suspicion for this syndrome. Such patients warrant routine multidisciplinary monitoring. In the three patients who received rituximab, clinical responses were variable and transient, with no sustained long-term improvement observed. However, due to the small sample size and heterogeneous treatment protocols, no definitive conclusion regarding rituximab efficacy can be drawn.
SN - 2296-2360
ER -