Jiménez Brian L, Carlo Simón, De Jesús Rojas Wilfredo
Pediatrics, Ponce Health Sciences University - School of Medicine, Ponce, PRI.
Genetics, Ponce Health Sciences University - School of Medicine, Ponce, PRI.
Cureus. 2021 Mar 20;13(3):e14012. doi: 10.7759/cureus.14012.
A microdeletion in the 15q13.3 locus is an exceedingly rare condition affecting the CHRNA7 gene. There have been 11 pediatric cases of this mutation reported worldwide. Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hypotonia, autism, seizures, congenital cardiac defects, and neuropsychiatric disorders including impulsive hyperphagia. We describe the case of a four-year-old female with CHRNA7 15q13.3 microdeletion presenting with morbid obesity due to impulsive food-seeking behavior. We have also conducted a literature review on 15q13.3 microdeletion and compared the clinical features with other rapid-onset obesity disorders in the pediatric population. The goal of this case report is to increase awareness concerning CHRNA7 15q13.3 microdeletion as part of the differential diagnosis of rapid-onset obesity associated with neuropsychiatric disorders in pediatrics.
15q13.3位点的微缺失是一种极其罕见的病症,会影响CHRNA7基因。全球已报告11例患有这种突变的儿科病例。15q13.3微缺失的临床特征包括快速发作的肥胖、肌张力减退、自闭症、癫痫、先天性心脏缺陷以及包括冲动性贪食在内的神经精神障碍。我们描述了一名4岁女性患者的病例,该患者因CHRNA7 15q13.3微缺失,出现因冲动性觅食行为导致的病态肥胖。我们还对15q13.3微缺失进行了文献综述,并将其临床特征与儿科人群中其他快速发作的肥胖症进行了比较。本病例报告的目的是提高对CHRNA7 15q13.3微缺失的认识,将其作为儿科中与神经精神障碍相关的快速发作肥胖症鉴别诊断的一部分。