Aldirawi Mohammed, Yavuz Lemis, Ghoweba Yousra, Mohamedali Saril, Chencheri Nidheesh, Thalange Nandu
Pediatrics, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Emergency, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Cureus. 2023 Jul 5;15(7):e41413. doi: 10.7759/cureus.41413. eCollection 2023 Jul.
Here, we report the case of a rare and complex disorder, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neuroendocrine tumor (ROHHADNET) syndrome, in a three-year-old girl with no significant medical history. This is the first such case reported from the UAE. ROHHADNET is a rare disorder of respiratory control and autonomic nervous system regulation with endocrine abnormalities. It typically presents in children older than 18 months with rapid weight gain. This is a challenging diagnosis as there is no clear diagnostic test, and treatment is essentially supportive. This report describes a case of ROHHADNET syndrome in a previously well child who presented with rapid weight gain followed by ophthalmoplegia, dysphagia, electrolyte disturbance, and other comorbidities. The paper outlines in detail the clinical course, investigations, and management of ROHHADNET syndrome. Cerebrospinal fluid analysis revealed oligoclonal bands, which have been reported in only two other cases of ROHHADNET syndrome. Our goal in reporting this case is to increase awareness of this condition among clinicians to facilitate early diagnosis and timely management.
在此,我们报告一例罕见且复杂的疾病——快速进展性肥胖伴下丘脑功能障碍、低通气、自主神经调节异常和神经内分泌肿瘤(ROHHADNET)综合征,患者为一名无重大病史的三岁女童。这是阿联酋报告的首例此类病例。ROHHADNET是一种伴有内分泌异常的呼吸控制和自主神经系统调节的罕见疾病。它通常在18个月以上的儿童中出现,体重迅速增加。由于没有明确的诊断测试,这是一个具有挑战性的诊断,治疗基本上是支持性的。本报告描述了一例ROHHADNET综合征病例,该患儿此前健康,出现体重迅速增加,随后出现眼肌麻痹、吞咽困难、电解质紊乱和其他合并症。本文详细概述了ROHHADNET综合征的临床病程、检查和管理。脑脊液分析显示寡克隆带,仅在另外两例ROHHADNET综合征病例中报告过。我们报告此病例的目的是提高临床医生对这种疾病的认识,以便于早期诊断和及时管理。