An unusual case of gastrointestinal tract occlusion, Ladd’s syndrome and neuroendocrine tumour of the appendix in a 19-year-old female patient

Overview

Ladd’s syndrome is a complex gastrointestinal anomaly that occurs based on congenital intestinal malrotation and leads to midgut volvulus and intestinal obstruction. It is mostly discovered in paediatric patients and presents itself in 90% of cases within the first year of life. It is a rare diagnosis in adult patients. We present the case report of a 19-year-old female patient with chronic abdominal pain and upper-type dyspeptic syndrome. MRI examination of the abdomen showed an abnormal location of the loops of the small intestine predominantly in the right part of the abdomen, caecum and c. ascendens in the epigastrium, duodenojejunal transition compressed and stenotized between upper mesenteric vessels and the aorta, with prestenotic dilatation of the duodenum and stomach and the “whirlpool sign” in mesentery. The patient was indicated for operational procedure and Ladd’s operation was successfully performed laparoscopically, where “Ladd’s bands” were divided; the procedure also included adhesiolysis, mobilization of the duodenum with its straightening, widening of the base of the mesentery, appendectomy and removal of an incidental solitary mesothelial cyst. A highly differentiated incidental neuroendocrine tumour of the apex of appendix was confirmed by histology. In the discussion, we focus on the rarity of intestinal malrotation in adulthood, clinical manifestation of the disease, diagnostic options and surgical treatment.

Keywords:

bowel obstruction – Ladd’s band – gut malrotation

INTRODUCTION

Midgut malrotation is a rare congenital developmental anomaly that occurs in 0.2–1% of the population [1]. Intestinal malrotation occurs due to a complete or partial failure of the midgut to rotate 270 degrees counter-clockwise around superior mesenteric vessels during foetal development [2].

Due to failure in rotation, the small intestine remains in an anomalous position predominantly on the right side of the abdominal cavity and the large intestine on the left. Congenital fibrous bands, so-called Ladd’s bands fix caecum and colon ascendens to the abdominal wall, causing extrinsic obstruction of the duodenojejunal transition or midgut volvulus. By narrowing the base of mesentery, the risk of ischaemia and intestinal necrosis increases [3].

Clinically, malrotation of the intestine manifests itself most often in children. Most cases of intestinal malrotation (64–84%) appear in the first month of life and up to 90% within the first year. Based on post-mortem studies the incidence of malrotation is estimated as 1 in 6000 live births, however true incidence is difficult to calculate as some cases remain asymptomatic. Cases of malrotation in adults are very rare, accounting for only 0.2–0.5% of all cases [4,5].

The rarity of this diagnosis, non-specific symptoms and a lack of experience with this diagnosis in adults can cause differential diagnostic embarrassment and delay adequate treatment. It leads to increased mortality and morbidity in adults suffering from intestinal malrotation [6].

In this article, we present an interesting case of a 19-year-old female patient with intestinal malrotation and an incidental finding of a neuroendocrine tumour of the appendix, the diagnosis and treatment of which were performed at our department. Our goal is to draw attention to this diagnosis, as well as clarify the approach to diagnosis and surgical management of this disease. This case study was processed in accordance with SCARE criteria [7].

 

CASE REPORT

A 19-year-old female patient with no previous medical history was referred to our department with a four-month history of abdominal complaints in the sense of a full stomach, pain in the epigastrium, general fatigue and vomiting followed by a relief. During the first attack, which appeared 8 months before the operation, the difficulties lasted for two weeks, then the above-mentioned symptoms disappeared spontaneously. Later, this condition recurred approximately once a month, but with a shorter duration at an interval of 1 to 2 days. In a retrospective analysis, we recorded similar clinical symptoms in our patient already at the age of 13 when she had episodes of abdominal pain associated with vomiting. The patient maintained a stable weight during this period.

The patient underwent an ultra-sonographic examination of the abdomen and a gastrointestinal endoscopy which did not reveal any obvious abnormalities or causes of obstruction. As part of the differential diagnosis, the patient was examined to exclude functional disorders of the gastrointestinal tract as well as infectious gastritis caused by H. pylori infection, food allergies and intolerances. All examinations were unremarkable. Subsequently, abdominal magnetic resonance imaging was completed, which showed signs of intestinal malrotation with the entire small intestine located predominantly on the right side of her abdomen and caecum and c. ascendens atypically in the epigastrium. The abdominal MRI scan revealed stenotized duodenojejunal transition to diameter of 7 mm between the aorta and superior mesenteric artery with a dilated part of the duodenum and stomach localized orally before the stenosis. Swirling appearance of the mesentery and superior mesenteric vein around the superior mesenteric artery known as the “whirlpool sign” or “whirl sign” was present (Figs. 1, 2).

After establishing the diagnosis and obtaining an informed consent, we indicated the patient for an elective surgical procedure in the sense of “Ladd’s operation” using a laparoscopic approach.

Malrotation of the midgut was verified by intraoperative revision. According to the preoperative MRI scan the duodenum was placed intraperitoneally, the D3 section of the duodenum run ventrally from the upper mesenteric vessels. The D4 section of the duodenum turned dorsally and the duodenojejunal passage was directed to the right between the upper mesenteric vessels and the aorta. In this position passage was compressed and stenotized with prestenotic dilatation of the duodenum and stomach. Loops of the small intestine were located mainly on the right, the caecum and c. ascendens atypically in the epigastrium. Between the caecum and the lateral abdominal wall, extensive fibrous Ladd’s bands were present.

After clarifying the conditions, we performed adhesiolysis of Ladd’s fibrous bands, and mobilization of the caecum and c. ascendens from the duodenum and retroperitoneum. Derotation and disruption of mesentery-small bowel adhesions were done, leading to widening of the mesenteric base to prevent future midgut volvulus. The duodenum was straightened and oriented downward towards the right lower quadrant. The entire small intestine was without signs of ischaemia, so its resection was not necessary. After the deliberation was completed, the small intestine was placed without tension in the right half of the abdomen and the large intestine in the left part of the abdomen. Subsequently, in the last step, a simple appendectomy was performed as a prevention of possible differential diagnostic embarrassment in the case of abdominal pain in the future. During the check of haemostasis and toilet of the abdominal cavity, a simple thin-walled mesothelial cyst of approximately 5 cm in size was identified in the right hypogastrium, which was completely removed. Due to extensive adhesiolysis and tissue oozing we applied one passive drain to the abdominal cavity to monitor the postoperative course.

Histological examination identified a unifocal tumour with a diameter of 3.2 mm in the specimen from the apex of the appendix. The base of the appendix was negative. Histologically, it was a well-differentiated G1 neuroendocrine neoplasia with an immunohistochemical profile: CK 8/18+, synaptophysin +, chromogranin A +, serotonin -. The tumour had a low Ki67 proliferative activity of 1% and infiltrated the mucosa and part of the submucosa without spreading to the serosa and mesoappendix.

The postoperative course was without complications. The patient’s vital functions were stabilized, she was afebrile, verticalized from the first postoperative day and gradually refed. The drain with minimal serous production was extracted on the second postoperative day. On the 4th postoperative day, in good condition and on full oral intake, she was discharged to outpatient care. During follow-up examinations, the patient has been without any difficulties and is satisfied with the result of the operation.

 

DISCUSSION

Physiological development of the midgut consists of three stages of the rotation process, which occur between the 4th and 12th weeks of embryonic development. During this period, the duodenum is fixed retroperitoneally to the Treitz ligament in the left part of the abdomen and the caecum in the right lower abdomen. Malrotation is caused by complete or partial failure of the midgut to rotate 270 degrees counter-clockwise around the superior mesenteric pedicle. This causes an anomalous position of the loops of the small intestine on the right side of the abdomen; absence of the Treitz ligament is common. The caecum, appendix and colon ascendens remain on the left side. Fibrous ligaments are present between individual structures, the so-called “Ladd’s bands” named after the author of the surgical treatment of malrotation and volvulus in 1932, according to whom this procedure is still performed today [8].

Clinical significance of malrotation applies at two levels. The abnormal position of the duodenojejunal region caused by Ladd’s bands causes duodenal obstruction. A tightly fixed mesentery increases the risk of volvulus and basin ischaemia of the superior mesenteric artery [9].

Clinical complaints in adult patients with malrotation of the small intestine correspond to symptoms of acute or chronic volvulus. The diagnosis of malrotation is often an incidental finding during imaging examinations of the abdomen indicated as part of the differential diagnosis of another disease [10].

Predominant symptoms include recurrent abdominal pain, nausea, distension, vomiting. Some patients report relief of difficulties after switching to a liquid form of diet. In some patients, we may encounter malnutrition, which is characteristic for the chronic form, and in some patients we encounter peritonitis due to incarceration of the intestine and ischaemia, while peritonitis is more common in the acute form. Retrospective studies show that the symptoms of congenital intestinal malrotation in adults are non-specific and can often be mistaken for other diseases such as functional dyspeptic syndrome or H. pylori infection, and the diagnosis of intestinal malrotation remains on the periphery of the diagnostic spectrum. In adults, when it comes to the chronic form of malrotation, the diagnosis is usually determined by exclusion [10,11].

In the presented case study, we emphasize that our patient was experiencing chronic abdominal pain and vomiting with episodes of spontaneous improvement and worsening lasting approximately six months. Anamnestically, however, it is possible to trace the symptoms caused by malrotation even in puberty. Despite the chronic form, the patient did not lose weight and at the time of admission to the hospital she was not suffering from any difficulties and was admitted to the hospital for an elective procedure.

In adults, a CT scan or MRI examination is commonly used in diagnosing a disease. The diagnostic accuracy of these imaging modalities is at the level of 80%. The several features indicative for intestinal malrotation include positional abnormalities of the duodenojejunal transition, small intestine and caecum, an underdeveloped pancreas or absence of the uncinate process, inverted position of the superior mesenteric artery and vein, and the “whirlpool sign” in the mesentery. When establishing the diagnosis all possible vascular and visceral anomalies should be considered [12,13].

The surgical treatment of intestinal malrotation in both children and adults is the Ladd’s operation, which consists of the following steps [14]:

• division of Ladd’s fibrous bands between the caecum and abdominal wall causing compression of the duodenojejunal flexure;
• freeing and straightening of the duodenum;
• widening of the narrowed base of the mesentery;
• in the presence of volvulus of the middle intestine, detorsion and control of the vitality of the intestine in order to determine the presence of ischaemia and the need for resection;
• depositing the small intestine on the right side and the large intestine on the left side of the abdomen;
• prophylactic appendectomy to minimise any diagnostic error in the future.

Ladd’s operation can be performed classically using laparotomy or laparoscopically. In most cases, if it is an acute case of a patient with signs of volvulus, it is advisable to proceed with middle laparotomy, which is considered the gold standard in an emergency. If it is a patient with chronic problems and an elective procedure is planned, as was the case in our case, or it is an adult with an incidental diagnosis, laparoscopic surgery can be chosen, if performed by a sufficiently experienced surgeon [15]. The laparoscopic approach to the Ladd’s procedure is as feasible, safe and effective as the standard open Ladd’s procedure. Patients benefit from the mini-invasive laparoscopic approach, as manifested by a decreased need for intravenous analgesia, earlier oral intake, quicker rehabilitation, and an earlier discharge from the hospital [16].

Whether it is appropriate to perform this procedure in patients with verified malrotation who are asymptomatic remains a controversial question. Prophylactic surgery in asymptomatic forms is recommended to be performed only in paediatric patients as the risk of acute ischaemia is high. As for older patients, the risk of acute volvulus decreases with each decade of life. The chance of asymptomatic patients requiring the Ladd’s procedure declines drastically after the first year of life. It reaches a probability of 1 per 10,000 patients after 20 years of life. Therefore, we consider a prophylactic procedure in adults unjustifiable and we should indicate an operation only when symptoms are present. Correcting asymptomatic malrotation in adults could be possibly harmful due to operative complications [17].

An interesting finding in the presented case study was the finding of a neuroendocrine tumour of the appendix. In more than 80% of cases, these tumours are diagnosed accidentally after appendectomy, as was our case. We find them in approximately 0.5–1% of all appendectomies. A controversial question from the point of view of surgical treatment remains whether appendectomy itself is sufficient or whether it is necessary to proceed to right-sided hemicolectomy. The European Society for Neuroendocrine Tumours (ENETS) considers right-sided hemicolectomy as recommended in the presence of risk factors such as: tumour size more than 2 cm, localization near the base, proliferation index more than 2%, tumour invasion into the mesoappendix more than 3 mm, presence of angioinvasion and perforation or infiltration into surrounding structures. As for our patient, all risk factors were negative, therefore the performed appendectomy was a sufficient surgical treatment, and it was not necessary to proceed with radicalization of the procedure. In this case, surgical treatment was considered sufficient and the patient did not require further routine follow-up [18,19].

 

CONCLUSION

Intestinal malrotation is a rare diagnosis in adults with potentially catastrophic consequences. Due to the non-specific symptoms, the diagnosis of this disease is difficult. Surgeons should be familiar with this diagnosis and should consider intestinal malrotation in the differential diagnosis of adult patients presenting with atypical chronic abdominal pain or intermittent symptoms of intestinal obstruction. Variability in anatomy creates a range of possible presentations, emphasizing the need for early consideration of this diagnosis. Although intestinal malrotation can present as acute abdomen, in adult patients it tends to present with more subacute or chronic symptoms, as we demonstrated in our patient’s case.

Coincidence of the neuroendocrine tumour of the appendix in a patient undergoing appendectomy for malrotation is extremely rare. To our knowledge, only two cases have been previously reported in literature [20].

 

Acknowledgment
The authors of the case report would like to thank the patient for her willingness to cooperate and for her consent to share medical information for the purpose of the educational process and publication.

Conflict of interests
The authors declare that they have not conflict of interest in connection with this paper and that the article has not been published in any other journal, except congress abstracts and clinical guidelines.

Martin Grajciar, MD
Clinic of General, Visceral and Transplant Surgery
Jessenius Faculty of Medicine, Comenius University Bratislava
Martin, Slovak Republic
e-mail: martin.grajciar@unm.sk