学龄前期女童发热2个月及意识障碍1周

快速肥胖伴通气不足、下丘脑功能不全和自主神经调节异常综合征（rapid-onset obesity with hypoventilation，hypothalamic dysfunction，and autonomic dysregulation syndrome，ROHHADS）是一种罕见的多系统疾病，诊治不及时可能导致灾难性心肺并发症。目前国内未见该病报道，该文报道1例ROHHADS患儿，以提高临床医生对该病的认识。3岁女童，以快速体重增长、发热、意识障碍及惊厥为主要临床表现。体格检查示体重20 kg，嗜睡状，呼吸不规则，颈抗阳性。辅助检查示血泌乳素及促卵泡素增高、低钠血症；腰椎穿刺示颅内压增高。头颅MRI和核磁共振静脉造影示脑室周围对称性病变，右侧横窦、上矢状窦静脉血栓形成，睡眠监测示低通气；患儿最终诊断为ROHHADS，颅内静脉血栓形成。经积极控制颅内压、抗凝及呼吸支持等治疗后病情好转出院。对于不明原因肥胖、发热、低通气，伴或不伴中枢神经系统症状患者，均需考虑ROHHADS可能。早期诊断和规范随访可改善患儿预后。

Fever for 2 months and disturbance of consciousness for 1 week in a preschool-aged girl

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare multi-system disease, and delayed diagnosis and treatment may lead to catastrophic cardiopulmonary complications. As far as we know, no patient with ROHHADS has been reported in China, and this article reports a child with ROHHADS to improve the awareness of this disease among clinicians. A girl, aged 3 years, had the clinical manifestations of rapid weight gain, fever, disturbance of consciousness, and convulsion. The physical examination showed a body weight of 20 kg, somnolence, irregular breathing, and stiff neck. She had increased blood levels of prolactin and follicle-stimulating hormone and hyponatremia. The lumbar puncture showed an increased intracranial pressure. The brain MRI and magnetic resonance venography showed symmetrical lesions in the periventricular region and venous thrombosis in the right transverse sinus and the superior sagittal sinus. The sleep monitoring showed hypopnea. The girl was finally diagnosed with ROHHADS and intracranial venous thrombosis. She recovered after symptomatic treatment including decreasing intracranial pressure, anticoagulation, and respiratory support. The possibility of ROHHADS should be considered for patients with unexplained obesity, fever, and hypoventilation, with or without central nervous system symptoms. Early diagnosis and standardized follow-up can improve the prognosis of children with ROHHADS.