Clinical Case Summary

Endometriosis, a condition characterized by the presence of endometrial tissue outside the uterine cavity, is a well-known affliction affecting approximately 10% of women of reproductive age. However, the occurrence of endometriosis in the small bowel remains a rare and intriguing phenomenon.
A 40-year-old woman with a history of severe endometriosis arrived at the Emergency Department experiencing severe, recurring abdominal pain localized around the peri-umbilical area. She reported minimal relief from analgesics and had one episode of vomiting along with a single occurrence of loose stool, without any signs of blood in the stool or diarrhea. Notably, she had undergone a lower segment Caesarean section in 2017. A CT scan of the abdomen and pelvis revealed multiple segments of thickened, inflamed small bowel near the terminal ileum, raising concerns of Crohn's disease. Subsequent colonoscopy revealed luminal narrowing at the terminal ileum without any discernible mucosal abnormalities, and a biopsy taken from the terminal ileum showed no remarkable findings. She was treated conservatively with bowel rest and a course of IV hydrocortisone followed by oral prednisolone with the plan for further evaluation with relook colonoscopy and MRI scan.Two weeks later, she returned to the ED with recurrent small bowel obstruction and signs of small bowel volvulus, indicating a possible closed-loop obstruction due to twisting of the mesenteric pedicle. The decision was made to perform a laparoscopic right hemicolectomy. During the surgery, cicatrizing lesions were observed in the terminal ileum, and the biopsy results confirmed the presence of endometriosis in the small bowel and appendix.
Small bowel endometriosis can be a significant cause of persistent abdominal discomfort and nonspecific gastrointestinal symptoms, often challenging to diagnose initially. This presents a unique diagnostic challenge and the importance of a thorough evaluation process.

Introduction

The diagnosis of small bowel motility disorders currently relies on identifying abnormal contractile patterns through intestinal manometry, but the technique is restricted to referral centers. Conventional CT scanning, frequently performed in the routine evaluation of these patients, provides images of intestinal content, which might serve as a marker of intestinal dysfunction. We hypothesized that pooling of intestinal content, quantified through computerized analysis of abdominal CT images, could serve as an indirect marker of small intestinal motor dysfunction.

Aims & Methods

Consecutive patients with either a) chronic intestinal pseudo-obstruction (CIPO) or b) suspected small intestinal motor dysfunction, evaluated at our Motility Unit using high-resolution jejunal manometry, were prospectively included. Manometric tracings were categorized as
a) normal,
b) uncoordinated contractile activity with preserved amplitude, or
c) hypomotility (markedly diminished amplitude of contractile activity).
All patients also underwent an abdominal CT scan within three months of the manometric study, as part of the clinical evaluation of the motility disorder. CT images were analyzed using a validated software developed in our laboratory, which applies image processing techniques and deep-learning tools to identify and quantify intestinal content volumes in the small bowel and colon of:
a) gas,
b) chyme-type content (non-gaseous, homogeneous texture), and
c) fecal-type content (non-gaseous, heterogeneous texture).

Results

Of the 66 patients included, 9 had CIPO and 57 suspected dysmotility. Manometry was abnormal in all patients with CIPO and in 22 patients (39%) without CIPO. Total intestinal content was markedly increased in patients with CIPO as compared with patients with normal motility (3034±826 mL vs 398±43 mL, respectively; p<0.001), primarily due to an increase in gas (1086±325 mL vs 22±4; p<0.001) and chyme-type content in the small bowel (1282±544 mL vs 81±11; p<0.001).
Among patients without CIPO, the volume of small bowel content was increased in patients with dysmotility compared to those with normal motility, mainly of chyme-type content (191±39 vs 81±11 mL in normal motility; p=0.006). Colonic volumes of gas and fecal-type content were also higher in patients with dysmotility than in those with normal motility (gas 224±40 vs 115±18 mL, p=0.027; fecal-type 244±59 vs 115±19 mL, p=0.036). Dysmotility patients with hypomotility patterns had overall higher intestinal content volumes than patients with uncoordinated contractile patterns (Table 1).

Table 1. Intestinal content volumes in non-CIPO patients, classified by manometric patterns

Conclusion

Intestinal content, measured on conventional CT scans by a specific analysis program, provides a useful indication of intestinal dysmotility.

Introduction

Systemic sclerosis (SSc) is a complex, multisystem disease driven by autoimmunity, vasculopathy, and progressive fibrosis. Gastrointestinal involvement is common, with the small bowel frequently affected. However, small bowel dysfunction often remains undiagnosed due to the non-specific nature of symptoms and the limited availability of objective diagnostic tools. Capsule endoscopy provides a minimally invasive method for assessment of the small bowel mucosa. At our laboratory, we developed a machine learning–based algorithm that uses computer vision techniques to analyze capsule endoscopy images and quantify small bowel motor function.

Aims & Methods

To determine the presence of structural and functional abnormalities of the small bowel in patients with SSc using capsule endoscopy.
We conducted a prospective study of 23 consecutive patients with SSc (22 women; mean age 52 ± 8 years; 8 diffuse and 15 limited cutaneous subtype) and a history of gastrointestinal symptoms, evaluated between June 2021 and June 2024. All participants completed a validated gastrointestinal symptom questionnaire (UCLA GIT 2.0) and underwent capsule endoscopy using the PillCam SB3 system (Medtronic).
Morphological abnormalities of the small bowel were assessed by visual analysis of capsule images. Motor function evaluation was performed using a validated automated algorithm based on neuronal-networks to classify capsule endoscopy images as contractile events (i.e. radial wrinkles), non-contractile patterns (tunnel and wall) or turbid luminal content. Movement between consecutive images was measured using Earth Mover's Distance method. Results in patients were compared to those from a historical cohort of 49 healthy subjects (HS).

Results

Structural abnormalities were identified in 6 patients (26%), all presenting with jejunal angiodysplasias. Notably, all affected patients belonged to the limited cutaneous SSc subset (p = 0.037).
Using automated image analysis to assess motor function, patients with SSc demonstrated a significantly lower proportion of contractile events compared to HS (9 ± 7% vs. 14 ± 7% of all images, p = 0.017). Additionally, they exhibited a higher proportion of images with turbid luminal content (34 ± 19% vs. 25 ± 14%, p = 0.036), indicating impaired clearance of secretions, and a higher proportion of static image sequences (11 ± 7% vs. 8 ± 7%, p = 0.036), suggesting reduced intraluminal movement. When comparing SSc subtypes, patients with diffuse cutaneous SSc exhibited significantly fewer contractile events than those with limited cutaneous SSc (5 ± 5% vs. 12 ± 7%, p = 0.005). No correlation was observed between the severity of digestive symptoms, as assessed by UCLA GIT 2.0 scores, and any objective parameter of small bowel motor function.

Conclusion

Our findings demonstrate that small bowel involvement in SSc can be objectively evaluated through morpho-functional analysis of capsule endoscopy images. This novel, minimally invasive approach may enhance the accuracy of disease phenotyping and support more personalized management of gastrointestinal involvement in SSc.

References

Seguí S, Drozdzal M, Pascual G, Radeva P, Malagelada C, Azpiroz F, Vitrià J. Generic feature learning for wireless capsule endoscopy analysis. Comput Biol Med. 2016 Dec 1;79:163-172.

Clinical Case Summary

MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a rare mitochondrial disorder characterized by multisystem involvement, particularly in the neurological, cardiovascular, and gastrointestinal (GI) systems. GI manifestations are less commonly discussed but can present significant clinical challenges, including dysmotility, bowel ischemia, and obstruction.
A 19-year-old male, with a family history of MELAS affecting multiple relatives, was admitted with status epilepticus and other associated neurological and cardiovascular symptoms. On admission, the patient exhibited severe metabolic acidosis and elevated lactate levels, raising suspicion for mitochondrial dysfunction. During his ICU stay, he was found to have significant GI symptoms, including a post-operative ileus likely secondary to dysmotility syndrome associated with MELAS. He was subsequently diagnosed with a faecal bezoar causing large bowel obstruction (LBO) in the sigmoid colon, requiring laparotomy with disimpaction of the faecal mass, and decompression of the small and large bowel. There was evidence of bowel ischemia during the surgical exploration, with friable mucosa and necrotic areas observed in the proximal rectum and descending colon. Fortunately, all bowel sections were viable after decompression, and no further ischemic damage was noted.
This case highlights the importance of considering gastrointestinal complications, such as fecal bezoars and bowel ischemia, in patients with MELAS syndrome. GI manifestations, though less commonly recognized, can lead to significant clinical issues such as bowel obstruction and ischemic damage. Early intervention, including surgical management and decompression, is crucial to preventing further complications. Awareness of these potential issues is essential for clinicians managing patients with MELAS, as prompt treatment can improve outcomes and mitigate the risk of severe long-term GI dysfunction.

References

1. Colonoscopy images of diffuse friable mucosa with necrosis in sigmod colon and descending colon