Diffuse intestinal ganglioneuromatosis in a child

被引：15

作者：

Matthews, Mika A. B. ^{[1
]}

Adler, Brent H. ^{[2
]}

Arnold, Michael A. ^{[3
]}

Kumar, Soma ^{[4
]}

Carvalho, Ryan ^{[4
]}

Besner, Gail E. ^{[1
]}

机构：

[1] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Pediat Surg, Columbus, OH 43205 USA

[2] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Radiol, Columbus, OH 43205 USA

[3] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Pathol, Columbus, OH 43205 USA

[4] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Gastroenterol, Columbus, OH 43205 USA

来源：

JOURNAL OF PEDIATRIC SURGERY | 2013年 / 48卷 / 05期

关键词：

Intestine; Ganglioneuromatosis; MEN; 2B; NF-1; Cowden syndrome; NEOPLASIA TYPE 2B; DISEASE; MANAGEMENT; COLON;

D O I：

10.1016/j.jpedsurg.2013.03.066

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7 months later. Genetic testing was negative for mutations in the RET protooncogene, NF1 and PTEN tumor suppressor genes. We report a case of diffuse intestinal ganglioneuromatosis in a child with congenital neutropenia. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：1129 / 1133

页数：5

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