Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report

被引:1
|
作者
Aldirawi, Mohammed [1 ]
Yavuz, Lemis [1 ]
Ghoweba, Yousra [1 ]
Mohamedali, Saril [2 ]
Chencheri, Nidheesh [3 ]
Thalange, Nandu [4 ,5 ]
机构
[1] Al Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
[2] Al Jalila Childrens Specialty Hosp, Emergency, Dubai, U Arab Emirates
[3] Al Jalila Childrens Specialty Hosp, Pediat Neurol, Dubai, U Arab Emirates
[4] Mohammed Bin Rashid Univ, Med, Dubai, U Arab Emirates
[5] Al Jalila Childrens Specialty Hosp, Endocrinol, Dubai, U Arab Emirates
关键词
neural crest tumor; oligoclonal bands; autonomic dysregulation; hypothalamic dysfunction; rohhadnet; rapid-onset obesity;
D O I
10.7759/cureus.41413
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 threeyear-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.
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页数:9
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