Congenital short bowel syndrome: Cases series in the same family and review of literature.

ABSTRACT:

Introduction

Congenital short bowel syndrome (CSBS) is a rare congenital gastrointestinal disease and defined as a shortage of consecutive small bowel length present from birth. This syndrome is often accompanied by intestinal malrotation, reduction of peristalsis, and malabsorption.

Cases presentation

This article reports on siblings carrying the Filamin A (FLNA) genetic mutation with CSBS The first case involved a child admitted to the hospital due to intestinal obstruction, undergoing four surgeries due to intestinal torsion with the remaining length of the small intestine only 60 cm, ultimately resulting in the child's death. The second case is a sibling of the first case, admitted to the hospital due to recurrent abdominal pain, diarrhea, and weight loss. With our previ

SUBMITTER: Nhan VT 

PROVIDER: S-EPMC11388007 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature