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

Yuan Fang; Ye Zhang; Rui Dong; Yi-Zhen Wang; Lian Chen; Gong Chen

doi:10.3389/fmed.2022.883958

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

Front Med (Lausanne). 2022 Jun 16:9:883958. doi: 10.3389/fmed.2022.883958. eCollection 2022.

Authors

Yuan Fang¹, Ye Zhang², Rui Dong³, Yi-Zhen Wang¹, Lian Chen⁴, Gong Chen⁵

Affiliations

¹ Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
² Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai, China.
³ Department of Oncological Surgery, Children's Hospital of Fudan University, Shanghai, China.
⁴ Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
⁵ Department of Pediatric Surgery, Children's Hospital of Fudan University, Shanghai, China.

Abstract

Introduction: 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.

Methods: The clinical presentation, histopathology, immunochemistry, molecular features, treatment, and prognosis of 3 cases of IGN were assessed.

Results: 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 RTEL1 (c.296C > T/p.Pro99Leu) along with variants in F11 (c.1489C > T/p.Arg497Xaa), NBAS (c.1514delC/p.Pro505Hisfs*15), and FECH (c.315-48T > C/splicing), who died due to intractable inflammation. The other two patients underwent recurrence without significant signs of systemic syndrome or malignant progression.

Conclusion: 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.

Keywords: case series; intestinal ganglioneuromatosis; juvenile polyps; mutation; pseudomembranous enteritis.