Clinical Case Summary

Introduction: ​​​​Blue rubber bleb nevus syndrome or bean’s syndrome, is a rare congenital disorder characterized by the presence of vascular malformations in the skin and other internal organs with a predilection of the gastro intestinal tract. The most common clinical manifestations are gastrointestinal bleeding causing severe iron deficiency anemia, and bluish-purple soft compressible nodules on skin or mucous membranes usually present at birth or during early childhood. We presented a clinical case of upper gastrointestinal bleeding revealing a blue rubber bleb nevus syndrome treated symptomatically with good evolution.
Case Report: A 73 years old woman, who has a history of a gastric and hepatic hemangiomatosis, was hospitalized for 3 months’ history of melena complicated by multiple episodes of hematemesis, with fatigue, pallor and severe anemia. Physical examination revealed small bluish nodules on the trunk, the lower limb and the nose. The abdomen was soft and no tender. Complete blood count revealed a hypochromic microcytic severe anemia with a hemoglobin level of 5.7g/dl. Oesogastroduodenoscopy revealed a large vascular mass in the lower third of the esophagus, with other vascular malformations in the fundus with active bleeding. CT scan of the body revealed the presence of an esophageal large mass extended to the lesser curvature of the stomach with multiple micro calcifications. Cerebral MRI showed no remarkable lesion. The diagnosis of blue rubber bleb nevus syndrome was established based on medical history, cutaneous lesions and the pathognomonic endoscopic lesion. Proton pump inhibitor and blood transfusion, with a regular follow up, treated the patient. The patient presents no other episodes of GI bleeding during the hospital stay and was discharged with a hemoglobin level of 10g/dl.

References

[1] Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 1993; 92: 160–162.
[2] Cho YM, Steen C, James J. Blue rubber bleb nevus syndrome: a rare cause of abdominal pain. ANZ J Surg 2020; 90: 619–621.
[3] Xia H, Wu J, Huang Y. Blue rubber bleb nevus syndrome: a single-center case series in 12 years. Transl Pediatr 2021; 10: 2960–2971.
[4] Rodrigues D, Bourroul ML, Ferrer AP, et al. Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac Med Sao Paulo 2000; 55: 29–34.
[5] Soblet J, Kangas J, Nätynki M, et al. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. Journal of Investigative Dermatology 2017; 137: 207–216.
[6] Tang X, Gao J, Yang X, et al. A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia. Medicine (Baltimore) 2018; 97: e10873.
[7] Shin SH, Chae HS, Ji JS, et al. A case of blue rubber bleb nevus syndrome. Korean J Intern Med 2008
[8] Tyrrel RT, Baumgartner BR, Montemayor KA. Blue rubber bleb nevus syndrome: CT diagnosis of intussusception. AJR Am J Roentgenol 1990

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Introduction

The prescription of colonoscopies is constantly increasing for the screening and diagnosis of colorectal cancer, precancerous lesions, polyps, and adenomas. Sometimes, indications become excessive due to the availability of this examination on one hand and the fear of missing a neoplastic lesion on the other. The EPAGE II criteria (European Panel on the Appropriateness of Gastrointestinal Endoscopy) was developped to assess the relevance of colonoscopy indications and to rationalize its prescription. The aim of our study was to evaluate the relevance of colonoscopy indications performed in our department according to EPAGE II criteria and to investigate a possible correlation between the appropriateness of the examination and the endoscopic result.

Aims & Methods

A retrospective study was conducted at a hepatogastroenterology department including all colonoscopies performed during the period from January 2022 to June 2023. The relevance of colonoscopy indications according to EPAGE II criteria was classified as appropriate, uncertain, or inappropriate.

Results

The relevance of the indication was evaluated in 406 colonoscopies. The sex ratio (Male / Female) was 1.15. The median age was 51 with an IQ [15.93]. Rectal bleeding represented the most frequently found indications (30%), followed by Crohn's disease (12.8%), then chronic diarrhea (11.1%). 49% of colonoscopies had satisfactory preparation (Boston ≥7). Colonoscopy was complete in 86% of patients, with catheterization of the terminal ileum in 36.2% of cases. A significant endoscopic lesion was found in 63% of colonoscopies, represented mainly by inflammatory lesions of inflammatory bowel disease (20.7%) followed by neoplastic lesions (15.3%) of colorectal cancer, then polyps (10%), benign strictures (6.4%), and diverticulosis (5.7%). Overall, colonoscopy indication was appropriate in 83.5% of cases, uncertain in 10.8%, and inappropriate in 5.7%. A significant endoscopic lesion was found in 63% of patients with an appropriate indication.

Conclusion

The indication for colonoscopies performed in our department was considered appropriate in more than 80% of cases, with rectal bleeding being the main indication. Significant endoscopic lesions were mostly found in cases of appropriate indication, leading us to encourage the use of this software to regulate colonoscopy indications

References

Clinical Case Summary

Wilkie syndrome or aortomesenteric clamp syndrome is a rare vascular pathology caused by a decrease in the angle between aorta and superior mesenteric artery. This syndrome is more frequent in women and produces nonspecific intestinal obstruction.
We present the case of a 47-year-old male who came to the ER with abdominal pain, nausea ,vomiting and a loss of 10 kgs in 3 months. A X-ray was performed showing a large gastric distension. A nasogastric tube was placed with an output of 4L of retained food content. A CT showed a decrease in the aortomesenteric angle with a compression at the third duodenal portion, producing dilatation of the first and second duodenal portions and gastric chamber. Progressive oral tolerance failed and conservative treatment with enteral nutrition (EN) was decided. A nasojejunal tube was placed with good tolerance to EN, and the patient was discharged with close follow-up.
The reduction of the aortomesenteric angle compresses the structures located between both arteries: third duodenal portion and left renal vein. As a consequence, patients may present intestinal obstruction and left varicocele. Although this syndrome can be congenital (appearing in childhood), the most frequent cause is acquired due to an important weight loss in a short time (anorexia, malabsorption); cachexia (cancer, AIDS); or states of hypermetabolism with reduction of abdominal fat and appearance of obstructive symptoms. This cycle leads to malnutrition causing an aggravation of the syndrome.
Diagnosis is based on radiological criteria with compatible clinical manifestations. Initial treatment is conservative, with hypercaloric diet by oral, enteral or parenteral nutrition to increase abdominal fat. However, most eventually require surgical intervention (duodenojejunostomy). These patients have an uncertain long-term prognosis, with poor quality of life and high mortality, so given the nonspecific symptoms, we must raise the index of suspicion in these patients.

Clinical Case Summary

Superior mesenteric artery (SMA) syndrome is a rare cause of upper gastrointestinal obstruion.Nutcracker syndrome occurs as the result of external compression of the left renal vein. Although they share a similar pathophysilogy,occurring simultaneously is rare.
Case report 1: 41 years old female presented with chronic postprandial upper abdominal pain, frequent vomiting and marked weight loss.Barium meal showed thickened gastric and duodenal mucosa.Post contrast triphasic CT abdomen followed by 3D CT angiography revealed: dilated stomach, decreased aorta- SMA distance 5.5 mm& decreased aorta – SMA angle 20 degrees, compressed dilated left renal vein between aorta and SMA. She started conservative treatment with dietitian to gain more weight which relieved the pain and decreased vomiting episodes.
Case report 2: 16 years old female presented with persistant vomiting.Upper endoscopy showed dilated stomach with superficial erosions. CT aortic angiography revealed: reduced aorto mesentric angle to 19.8 and aorto mesentric distance reduced to 3.5 cm, proximal dilatation of the stomach, compression of left renal vein between aorta and SMA as well as mild dilated tortous ovarian and pelvic veins.Conservative treatment failed at first and due to refusal of surgery, she was sent for nasojejunal tube to optimize nutrition.
Case report 3: 36 years female patient presented with acute onset abdominal pain, vomiting with history of marked weight loss due to abdominal pain with attacks of hematuria. Barium meal and endoscopy suggested superior mesentric artery syndrome. CT angiography of the abdomen was ordered and showed decreased aorto mesentric angle to 16 and aorto mesentric distance to 2.8 cm, as well as compression of left renal vein between aorta and SMA suggesting SMA syndrome and nutcracker syndrome. Patient refused conservative treatment and refered for gastrojejunostomy and stent placement in the left renal vein for relief of obstruction of nutcracker syndrome.

Clinical Case Summary

A 28-year-old patient presented with recurrent episodes of overt gastrointestinal bleeding, requiring multiple blood transfusions over the past two months (5 units of packed red blood cells). Despite undergoing UGI endoscopy and colonoscopy twice at other medical centers, no abnormalities were detected. CT enterography with CT angiography yielded normal results. To further investigate, the patient underwent antegrade and retrograde power spiral enteroscopy, revealing gross active bleeding from a site of hookworm bite in the jejunum. Following the procedure, the patient was discharged with antihelminthic therapy. However, a week later, he experienced abdominal pain, difficulty passing stools, intermittent rectal bleeding again, and low-grade fever. A relook sigmoidoscopy revealed a large hematoma with intraluminal compression in the sigmoid colon. CT scan confirmed a localized sealed-off perforation along with the hematoma. Management included percutaneous aspiration of the hematoma, intravenous antibiotics, and repeat blood transfusion. Anti-helminthic therapy continued, and the patient recovered completely after approximately four weeks which was confirmed by sigmoidoscopy. The mechanism of this sigmoid colon hematoma involves potential mechanical injury by the overtube's spiral tip during insertion or manipulation. Although the localized perforation was sealed off in this case, the preceding bleeding and drop in hemoglobin complicated the initial treatment plan. Considering such technical challenges, the equipment and technology have now been withdrawn globally by the manufacturer. Close monitoring of patient symptoms, and vital signs, and prompt discontinuation of the procedure in case of discomfort or pain are crucial in preventing such complications. As advanced endoscopic techniques become more prevalent, maintaining a cautious approach towards technology and addressing complications promptly is essential for ensuring patient safety and effective care

Introduction

Positron emission tomography (PET) scan involves injecting a radioactive isotope (18-fluoro-2-deoxyglucose) to locate areas where the radiotracer accumulates. The established indications of PET scanning mainly concern oncology, where it is used for staging, treatment monitoring, and long-term surveillance. It is also useful in cases of secondary lesions for identifying the primary lesion. Outside of oncology, PET scan has other clinical applications such as diagnosing and monitoring inflammatory diseases, and searching for infectious foci. The incidental discovery of metabolic hyperfixation in the digestive system on PET scan is becoming increasingly common, raising questions about the clinical significance of this hypermetabolism and the need for endoscopic exploration. The aim of our study is to report the endoscopic findings from examinations performed in our department where the indication was the incidental discovery of digestive hypermetabolism on PET scan.

Aims & Methods

This is a descriptive and analytical retrospective monocentric study including all patients referred for endoscopy due to the incidental discovery of digestive metabolic hyperfixation on PET scan, not corresponding to a previously known lesion, between January 2017 and September 2023. Only hypermetabolic fixations located in the stomach, colon, and rectum were included.

Results

28 hypermetabolic fixations were included in the study, of which 46.4% were located in the colon, 42.9% in the rectum, and 10.7% in the stomach. The mean age was 54.9 years with a standard deviation [32,78]. The male-to-female sex ratio was 0.6. PET scan indications were mainly dominated by surveillance of treated cancers or during treatment (57.1%). In 21.4% of cases, PET scan was requested for staging a newly diagnosed tumor, and in 17.9% of patients, it was used to search for a primary tumor with hepatic, pulmonary, or bone metastases. Other indications were rarer, representing 3.6% of cases. Hypermetabolism on PET scan corresponded to a neoplastic lesion in 17.9% of cases, an adenoma in 14.3% of cases, and a benign lesion (non-specific ulceration, inflammatory lesion, or stenosis) in 32.2% of cases. In 35.7% of patients, endoscopic examination did not reveal detectable abnormalities. Hypermetabolism was most often focal (67.9%). According to this study, the presence of focal metabolic hyperfixation was significantly associated with the presence of a neoplastic lesion on digestive endoscopy (P <0.01).

Conclusion

All metabolic hyperfixations on PET scan referred to our endoscopy center underwent endoscopic exploration to rule out a neoplastic lesion. However, additional studies, ideally prospective and multicentric with a larger sample size, are essential to establish the criteria for endoscopic exploration in the case of incidental discovery of digestive hypermetabolism on PET Scan

References

1.Kousgaard SJ, Thorlacius-Ussing O. Incidental colorectal FDG uptake on PET/CT scan and lesions observed during subsequent colonoscopy: a systematic review. Tech Coloproctol. juill 2017;21(7):521-9.
2.van Hoeij FB, Keijsers RGM, Loffeld BC a. J, Dun G, Stadhouders PHGM, Weusten BL a. M. Incidental colonic focal FDG uptake on PET/CT: can the maximum standardized uptake value (SUVmax) guide us in the timing of colonoscopy? Eur J Nucl Med Mol Imaging. janv 2015;42(1):66-71.

Clinical Case Summary

Introduction: Myeloid sarcoma (MS) is a rare neoplasm composed of immature myeloid cells, which can occur de novo or in association with hematologic malignancies such as acute myeloid leukemia (AML). Gastric involvement is rare.
Case Report: A 56-year-old woman with a medical history of acute myeloid leukemia (AML) with inv(16). Following two unsuccessful induction therapy cycles, she underwent two unrelated allogeneic hematopoietic stem cell transplantations (HSCT). During the second post-HSCT period, she developed grade I gastrointestinal graft-versus-host disease (GI GVHD), confirmed by biopsy and managed with budesonide.
Five months post-HSCT, the patient was admitted due to upper gastrointestinal bleeding (melena) and worsening anemia (Hb: 5,6 g/dL). Gastroscopy revealed multiple hemorrhagic suffusions, petechial areas, nodular formations with erythematous borders, and eroded centers that bled upon contact and were not amenable to endoscopic treatment (Figure 1). Biopsies were performed to exclude GI GVHD and viral superinfection. Histological examination revealed acute myeloid leukemia (myeloid sarcoma) infiltration in the gastric mucosa (Figure 2). Six months post-HSCT, the patient succumbed to AML progression.
Discussion:
- Myeloid Sarcoma (MS) typically affects the skin, lymph nodes, and brain, making its occurrence in the gastrointestinal tract uncommon.
- Endoscopic imaging may mimic other conditions therefore biopsies are required to confirm the diagnosis.
- In hematologic patients post-HSCT, endoscopic evaluations are essential for diagnosing gastrointestinal complications such as opportunistic infections, GI graft-versus-host disease (GI GVHD), and progression of their underlying disease. Our case highlights the rarity of gastric MS.

References

Figure 1: Gastroscopic images (A and B) depicting multiple hemorrhagic suffusions, petechial areas, nodular formations with erythematous borders, and eroded centers.

Figure 2: Histological examination of gastric and oxyntic mucosa biopsies revealing lamina propria occupation by small to medium immature blast cells, consistent with acute myeloid leukemia infiltration of the gastric mucosa (previously identified).