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 previous experience, we conducted genetic testing for the filamin A gene (FLNA), revealing that both siblings and their mothers carried a mutation in the gene. CLINICAL DISCUSSION: The diagnosis can be indirectly based on the upper gastrointestinal tract contrast study, however, most of diagnoses are confirmed by exploratory surgery. There is no consensus on nutritional treatment guidelines for infants with congenital short-bowel syndrome. Bowel lengthening procedures have not been recommended for infants with CSBS. A lot of disease-causing mutations have been recorded as CXADR-like membrane protein (CLMP) and FLNA. CONCLUSION: Congenital short bowel syndrome is a rare condition with a poor prognosis. It requires multidisciplinary coordination for effective diagnosis and treatment. Ongoing research into genetic mutations like CLMP and FLNA is vital for understanding CSBS and enhancing patient care.