伊朗8岁男童ROHHAD综合征1例报告。

IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM International Journal of Endocrinology and Metabolism Pub Date : 2021-05-22 eCollection Date: 2021-07-01 DOI:10.5812/ijem.111571
Abolfazl Amjadipour, Lobat Shahkar, Faridreza Hanafi
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引用次数: 1

摘要

快速发作性肥胖并发低通气、下丘脑、自主神经失调(ROHHAD)是一种罕见的疾病,在儿童早期表现为多器官疾病,世界范围内报道的病例不到100例。我们的目的是提出一个病例ROHHAD综合征承认与罕见的神经系统症状。我们还介绍了我们的治疗方案。病例介绍:一名8岁男孩因共济失调和步态障碍入院,经过彻底的调查后,我们对其进行了最终诊断。他多次入院,并接受了其他诊断的治疗。他的第一个症状始于5岁患有阻塞性呼吸暂停他当时接受了腺切除手术,但症状仍在继续。手术一年后,他再次因嗜睡而入院,但被诊断为甲状腺功能减退和贫血。在7岁零8个月时,他因过去一年的共济失调和步态异常而入院,伴有不稳定和多次跌倒。他还表现出贪食症,在6个月内体重增加了10公斤。他正在经历逐渐的行为症状,包括自我和异性攻击和冲动的发作。他的其他症状包括疲劳、嗜睡、胃肠运动障碍、多汗症、中枢性甲状腺功能减退、多尿、性早熟和快速肥胖。他的实验室检查显示高泌乳素血症。结论:本病例提示ROHHAD是一种体征和症状多样的复杂疾病,在诊断时应牢记于心,应在各医学专业的高度合作下治疗。由于这一综合征的晚期诊断导致发病率和死亡率的大幅增加,因此对这一综合征给予高度重视至关重要。对于两岁以上伴有其他症状的速发性肥胖儿童,更应考虑诊断。在这里,我们的病人的主诉是共济失调,在调查后发现了潜在的原因。
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A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy.

Introduction: Rapid-onset obesity concurrently with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is an uncommon disease that presents with multiorgan disorders during early childhood, with fewer than 100 cases reported around the world. We aim to present a case of ROHHAD syndrome admitting with rare neurologic symptoms. We also present our treatment regimen.

Case presentation: An 8-year-old boy was admitted to our department with ataxia and gait disturbance that led us to the final diagnosis after a thorough investigation. He had multiple admissions and was treated for other diagnoses. His first symptoms started from age 5 with obstructive apnea. He underwent an adenectomy surgery at that time, but the symptoms continued. A year after the surgery, he was admitted again due to his somnolence but was diagnosed only with hypothyroidism and anemia. At the age of 7 years and 8 months, he was admitted to our department with ataxia and abnormal gait from the past year with instability and numerous falls. He also had shown hyperphagia that had been resulted in 10 kilograms of weight gain in six months. He was experiencing gradual behavioral symptoms, including episodes of self and hetero aggression and impulsivity. His other symptoms included fatigue, somnolence, gastrointestinal dysmotility, hyperhidrosis, central hypothyroidism, polyuria, precocious puberty, and rapid obesity. His laboratory investigation revealed hyperprolactinemia.

Conclusions: Our case indicates that ROHHAD is a complex disease with divergent signs and symptoms that needs to be kept in mind for diagnosis and should be treated with a high level of collaboration of various medical specialties. Since late diagnosis of this syndrome leads to a magnificent increase in morbidity and mortality rates, it is vital to pay extreme attention to this syndrome. The diagnosis should be considered even more in children over two years old with rapid-onset obesity, which is accompanied by other symptoms. Here, our patient's complaint was ataxia that revealed the underlying cause after investigation.

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来源期刊
CiteScore
3.10
自引率
4.80%
发文量
0
期刊介绍: The aim of the International Journal of Endocrinology and Metabolism (IJEM) is to increase knowledge, stimulate research in the field of endocrinology, and promote better management of patients with endocrinological disorders. To achieve this goal, the journal publishes original research papers on human, animal and cell culture studies relevant to endocrinology.
期刊最新文献
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