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Int J Surg Case Rep
Int J Surg Case Rep
International Journal of Surgery Case Reports
2210-2612
Elsevier

S2210-2612(24)00916-7
10.1016/j.ijscr.2024.110135
110135
Case Report
Congenital short bowel syndrome: Cases series in the same family and review of literature
Nhan Vu Truong a
Hoang Tran Viet d
Nhan Pham Nguyen Hien a
Huynh Quynh Thi Vu c
Ban Ho Tran hotranban@ump.edu.vn
ab⁎
a Department of Pediatric Surgery, Children's Hospital No. 2, Ho Chi Minh City, Viet Nam
b Department of Pediatric Surgery, University of Medicine and Pharmacy at Ho Chi Minh City, Viet Nam
c Department of Pediatrics, University of Medicine and Pharmacy at Ho Chi Minh City, Nephrology and Endocrinology Department, Children's Hospital 2, Ho Chi Minh City, Viet Nam
d Can Tho University of Medicine and Pharmacy, PhD student of Department of Pediatric Surgery, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Viet Nam
⁎ Corresponding author at: Department of Pediatric Surgery, University of Medicine and Pharmacy at Ho Chi Minh City, 217 Hong Bang District 5, Ho Chi Minh City, Viet Nam. hotranban@ump.edu.vn
22 8 2024
10 2024
22 8 2024
123 1101353 7 2024
1 8 2024
7 8 2024
© 2024 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Limited.
2024

https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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.

Highlights

• Congenital short bowel syndrome (CSBS) is a rare congenital gastrointestinal disease.

• Reports on two familial cases of CSBS

• FLNA mutation

• Bowel lengthening procedures have not been recommended for infants with CSBS.

• Multidisciplinary coordination for effective diagnosis and treatment

Keywords

Congenital short bowel syndrome
FLNA genetic mutation
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pmc1 Introduction

Congenital short bowel syndrome was first reported in 1969 by Halmington et al. [1]. Since then, seventy cases of CSBS have been reported in the medical literature [2]. Congenital Short Bowel Syndrome (CSBS) represents a rare but significant challenge in neonatal gastrointestinal disorders, characterized by a markedly reduced length of the small intestine present from birth. This condition, often associated with severe malabsorption, chronic diarrhea, and failure to thrive, underscores the critical need for early and accurate diagnosis to mitigate potential life-threatening complications [2]. Advancements in diagnostic modalities have paved the way for improved identification of CSBS, yet distinguishing it from other neonatal intestinal anomalies, such as congenital internal hernias, requires a high degree of clinical vigilance. Both conditions share nonspecific presentations, making imaging and surgical exploration pivotal in confirming the diagnosis. This report not only reports on two familial cases of CSBS, illustrating the varied clinical spectrum and genetic underpinnings but also delves into the comprehensive diagnostic approach that incorporates modern imaging techniques and the critical role of genetic testing. The management of CSBS demands a multifaceted strategy that integrates surgical intervention, nutritional support, and, where applicable, genetic counseling [3,4]. As we report the outcomes of two siblings with distinct clinical courses, the broader implications for treatment protocols and prognostic evaluation in CSBS become apparent. By examining these cases within the context of the existing literature, we highlight the necessity for a multidisciplinary approach to care, aiming to improve long-term outcomes for patients with this congenital anomaly.

We report two cases of congenital short bowel syndrome in the same family. The work has been reported in line with the SCARE criteria. [5]

2 Case presentation

2.1 Case 1

The patient, a male firstborn, was delivered full-term via vaginal birth and had a normal prenatal ultrasound. At two weeks of age, he was admitted to a local hospital due to persistent bilious vomiting, abdominal distention, and diarrhea. Based on the ultrasound and TOGD results we raise suspicion of intestinal torsion. A laparoscopic procedure revealed a small segment of bowel volvulus and intestinal malrotation. The volvulus was reduced, the bowels were found to be in good condition, and a Ladd procedure was performed with appendectomy. Postoperatively, the patient exhibited abdominal tenderness, prolonged diarrhea, and dependency on parenteral nutrition.

At two months old, he underwent a second surgery, which identified bowel obstruction due to adhesions. Despite this, his abdominal distention persisted, leading to a third surgery. This revealed dilation of the small bowel from the duodenojejunal junction to the ileum, approximately 10 cm from the ileocecal valve, with a total small bowel length of about 60 cm. A biopsy of the small ileum and a Santulli ileostomy were performed. The results of the biopsy showed normal ganglion cells. Despite undergoing a fourth surgery for adhesion-induced intestinal obstruction and colon biopsy, the patient's condition did not improve. He was transferred to our hospital, where he underwent four additional surgeries, including adhesion removal, colon biopsy, and ileostomy closure. Unfortunately, the patient passed away at 14 months old due to severe sepsis, long-term parenteral nutrition complications, and exhaustion.

2.2 Case 2

The subject, a 9-month-old boy and younger brother of the first patient, was also delivered full-term via vaginal birth with a birth weight of 2.9 kg. His prenatal ultrasounds were normal. He exhibited normal growth until three months old, increasing his weight from 2.9 kg to 4.8 kg. Subsequently, he experienced persistent diarrhea, weight loss, and intermittent abdominal distention. Despite being diagnosed with intestinal malrotation and the recommendation for surgery, his parents initially declined treatment. He was later admitted to our hospital in a severely exhausted state, showing symptoms of diarrhea and noticeable floating intestinal loops and abdominal distention upon physical examination. An upper gastrointestinal tract series indicated large dilated loops of bowel, with contrast reaching the colon within 60 min (Fig. 1).Fig. 1 Upper gastrointestinal tract series.

Fig. 1

After consulting with gastroenterologists and nutritionists, our treatment plan includes a combination of parenteral nutrition supplemented with protein, glucose, fats, and essential vitamins to help recover from exhaustion, maintain nutrition, and promote enteral nutrition to stimulate the adaptation of the intestinal mucosa in nutrient absorption, similar to the treatment for simple short bowel syndrome. Additionally, genetic testing revealed a mutation in the filamin A gene (FLNA) on the X chromosome, a frameshift mutation due to a deletion on the long arm. His family was also tested, revealing his mother carried a heterozygous mutation on the X chromosome. Under partial parenteral nutrition complemented with enteral feeding, the patient's condition improved significantly; his weight increased to 5.7 kg over three months. He was eventually discharged, fully adapted to enteral feeding with a high protein and fiber diet. At 13 months old, he can eat orally, experiences occasional diarrhea and abdominal bloating which reduces post-flatus, and shows no signs of bowel obstruction.

3 Discussion

CSBS is an extremely rare congenital abnormality of digestive tract, the reported frequency in current medical literature is 1/1000000 live births [2]. CSBS is often associated with intestinal malrotation and reducing peristalsis. Since it was first reported in 1969 by Halmington, until 2020, according to a summary report by Zain M et al., only 61 cases have been reported in English literature [6]. Currently, the pathogenesis of this syndrome has not been clearly understood, however, cases of siblings have been reported [7,8] and CSBS has been proved its relation with CLMP and FLNA genetic mutation [3,4,9].

Clinical features of CSBS are abdominal distention, persistent diarrhea, vomiting (bilious or non-bilious fluid), and failure to thrive. Clinical manifestations are often diverse in each patient depending on the severity of comorbidities including length of bowel, reduction of peristalsis, and intestinal malrotation, leading to difficulty in diagnosis. The diagnosis can be indirectly based on the upper gastrointestinal tract contrast study, however, most of diagnoses are confirmed by exploratory surgery [2,6]. In two cases in our report, the first patient was operated on due to volvulus and recorded that the length of small bowel is about 60 cm, however, the second patient had the features of CSBS, so we consulted with a gastroenterologist and nutritionist for medical treatment after excluding volvulus.

Following the summary report by Zain M et al., 60 of 61 cases were associated with intestinal malrotation, and 1 case was not mentioned but malrotation could not be excluded. According to the authors, If CSBS is present, Ladd's procedure should be performed to prevent intestinal obstruction and possible volvulus [6]. Although we suspected our second patient to have CSBS we did not operate because this patient had no signs of proximal intestinal obstruction suggesting volvulus or Ladd bands. Owing to this case, we want to suggest that medical treatment for CSBS is possible and operation could be recommended for proximal intestinal obstruction. During exploratory operation, if the causes of intestinal mechanical obstruction are not detected, Ladd procedure should be performed without opening stoma because the reduction of peristalsis leads to dilatation of small bowel without blockage. In addition, congenital malformations associated with congenital short bowel syndrome that have been reported include congenital intestinal adhesions, pyloric hypertrophy, patent ductus arteriosus, central nervous system abnormalities, and appendicular aplasia. In our report, both of two cases did not record any coordinated defects. Regarding nutrition, there is no consensus on nutritional treatment guidelines for infants with congenital short-bowel syndrome. Moreover, the shortage of small intestine cause of malabsorption, prolonged diarrhea accompanied by reduction of peristalsis and recurrent abdominal distension leading to difficulties with medical resuscitation and nutritional treatment. The authors recommend that parenteral nutrition should be combined with attempts at enteral feeding as soon as possible [6]. Although parenteral nutrition provides enough nutrients to enhance the recovery of patients but it can cause many complications, especially sepsis. According to reports, sepsis is the main cause of death in patients with CSBS, similar to the first case that we reported [2]. By contrast, early gastrointestinal nutrition will help intestine stretch over time and the ability of absorption of this intestinal segment will gradually improve. Similar to our second patient, early enteral feeding made bowel have a good condition to adapt gradually and persistent diarrhea was improved significantly after 3 months. In medical literature, there are two patients were indicated bowel lengthening procedure but one died after 1 month while the other had depended on partial parenteral nutrition for 7 years after surgery [2]. Therefore, bowel lengthening procedures have not been recommended for infants with CSBS. Along with the developments of medicine, nutritionists have more experiences in intravenous nutrition, which is the reason for the increase in the survival ratio of children with CSBS.

A lot of disease-causing mutations have been recorded as CLMP and FLNA. Following the summary report in 2020, there were 18 reported cases with a genetic mutation, 11 cases were CLMP as an inheritance in an autosomal recessive manner, and 7 cases were FLNA which is a mutation in X-linked gene filamin A. In our report, the first patient did not undergo genetic test but the second patient was recorded as carrying FLNA mutation. Afterward, his mother was found to carry a heterozygous mutation and she was advised to have an inherited counseling before planning to have another child. Prenatal genetic counseling is very important because carrying this gene results in a 50 % chance of giving birth to a boy with the disease and a 50 % chance of giving birth to a girl who carries the gene. In the era of advanced medical genetics, we hope that there will be methods to eliminate known harmful genes before fertilization.

4 Conclusion

Congenital short bowel syndrome is a rare condition with a poor prognosis. It requires multidisciplinary coordination for effective diagnosis and treatment. Despite unknown pathogenesis, advances in medical treatments, especially in nutrition and surgery, are improving outcomes. Ongoing research into genetic mutations like CLMP and FLNA is vital for understanding CSBS and enhancing patient care.

Ethical approval

Ethical approval for this study was provided by the Ethical Committee of Children Hospital 2, No1 district, Ho Chi Minh city, Viet Nam.

Funding

Not applicable.

Author contribution

Ban Ho Tran and Hoang Tran Viet concept and design, data interpretation and analysis, drafting, revision, and approval of final manuscript. Nhan Vu Truong, Quynh Thi Vu Quynh and Nhan Pham Nguyen Hien data collection, data interpretation and analysis, draughting, revision.

Guarantor

Nhan Vu Truong

Research registration number

1. Name of the registry: CONGENITAL SHORT BOWEL SYNDROME: REPORT OF TWO CASES IN THE SAME FAMILY AND REVIEW OF LITERATURE

2. Unique identifying number or registration ID: researchregistry10399

3. Hyperlink to your specific registration (must be publicly accessible and will be checked): https://researchregistry.knack.com/research-registry#home/?view_2_search=researchregistry10399&view_2_page=1

Consent

Informed consent was obtained from the patients' parent for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Conflict of interest statement

Not applicable.

Appendix A Supplementary data

Supplementary material

Image 1

Appendix A Supplementary data to this article can be found online at https://doi.org/10.1016/j.ijscr.2024.110135.
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