AUTHOR=Fang Yuan , Zhang Ye , Dong Rui , Wang Yi-zhen , Chen Lian , Chen Gong 

TITLE=A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile

JOURNAL=Frontiers in Medicine

VOLUME=9

YEAR=2022

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2022.883958

DOI=10.3389/fmed.2022.883958

ISSN=2296-858X

ABSTRACT=<sec><title>Introduction</title><p>Intestinal ganglioneuromatosis (IGN) is a rare condition with enteric involvement. Herein, we report a case series of pediatric IGN with a novel phenotypic and genotypic profile.</p></sec><sec><title>Methods</title><p>The clinical presentation, histopathology, immunochemistry, molecular features, treatment, and prognosis of 3 cases of IGN were assessed.</p></sec><sec><title>Results</title><p>The cases involved 3 boys with an age range of 1 year and 4 months to 8 years, mimicking juvenile polyps or pseudomembranous enteritis. One patient carried a novel germline mutation in <italic>RTEL1</italic> (c.296C &gt; T/p.Pro99Leu) along with variants in <italic>F11</italic> (c.1489C &gt; T/p.Arg497Xaa), <italic>NBAS</italic> (c.1514delC/p.Pro505Hisfs*15), and <italic>FECH</italic> (c.315-48T &gt; C/splicing), who died due to intractable inflammation. The other two patients underwent recurrence without significant signs of systemic syndrome or malignant progression.</p></sec><sec><title>Conclusion</title><p>This case series added to the phenotypic and genotypic spectrum of pediatric IGN, which requires the accumulation of more cases and research for in-depth understanding.</p></sec>