Adult Duplication Research Articles

Duplication of the appendix masquerading as appendiceal tumor: a case report

BackgroundThis case report highlights the exceptional rarity of appendix duplication in adults, a condition that closely mimics appendiceal tumors, posing diagnostic challenges. The novelty of this case lies in its presentation of a Type A duplication, emphasizing the diagnostic intricacies involved in distinguishing it from other pathologies.Case presentationWe present the case of a 69-year-old male with a history of hypertension, hyperuricemia, and duodenal gastric ulcer, who presented with a positive occult blood test. Lower gastrointestinal endoscopy revealed an appendiceal orifice with atypical hyperemia and edema. Subsequent imaging and biopsy results suggested an appendiceal tumor, prompting laparoscopic ileocecal resection. Intraoperative findings revealed an unremarkable appendix, but histopathological analysis unveiled appendiceal duplication, characterized by bifurcation into two lumens within a thick serosal wall. The patient was discharged without complications.ConclusionsThis case underscores the importance of recognizing appendix duplication as a rare differential diagnosis for appendiceal tumors. Surgeons should remain vigilant, especially in cases of Type A duplication, where preoperative diagnosis remains challenging. Early identification can avert potential complications and missed congenital anomalies.

A RARE CASE OF OESOPHAGEAL DUPLICATION CYST IN ADULT

A Duplication cyst of the oesophagus is the 2nd most common congenital anomaly of the Gastrointestinal tract. It has an estimated prevalence of 0.012% with a higher predominance in males, representing the 10- 15% of all gastrointestinal duplication defects. Although it is a common nding in children, diagnosis of an oesophageal duplication in adults is rare. They are often asymptomatic but they may experience symptoms such as stridor or dysphagia corresponding to the lesion within the neck or mediastinum or be complicated by intracystic haemorrhage, rupture & infections. Here we present a case of an adult patient presenting with an oesophageal duplication cyst

Duplicated collecting system

The normal urinary collecting system develops from a single ureteric bud arising from the mesonephric (Wolffian) duct. The ureteric bud migrates to meet the primitive kidney (metanephros), where it develops into the collecting system. Abnormalities in the signaling pathways are thought to result in a variety of collecting system variants, including two ureteric buds arising from the mesonephric duct (complete duplication) or one bud that bifurcates during development (incomplete duplication).1 The incidence of duplication in adults is thought to be approximately 0.7% to 4%, with incomplete duplication more common than complete duplication.

Unique Findings of Retrograde Double-Balloon Enteroscopy in a Rare Adult Case of Ileal Duplication.

CASE REPORT Gastrointestinal (GI) duplications are congenital malformations that can be present anywhere from the esophagus to the anus. GI duplications are usually observed in pediatric patients, and their diagnosis in adulthood is quite rare. Preoperative diagnosis of GI duplication is difficult, particularly in the small intestine.1 We encountered a rare adult case of duplication of the ileum that was accidentally diagnosed in an asymptomatic state using double-balloon endoscopy (DBE). A 28-year-old man was admitted to our hospital for assessment of the cause of an abnormal calcification shadow that was incidentally detected on an abdominal x-ray image obtained during the treatment of orthopedic back pain. Abdominal computed tomography revealed a sac-like structure on the mesenteric side of the ileum, containing a calcification inside. Retrograde DBE revealed a bifurcated lumen in the ileum, located approximately 100 cm from the ileocecal valve. The narrow lumen had a sac-like cavity with a blind end and contained a hard white-yellowish spherical substance (Figure 1). Small bowel follow-through showed that the sac-like structure was present on the mesenteric side. The patient underwent partial resection of the ileum, including the sac-like structure. The sac-like structure was approximately 5 cm in diameter and had a giant fecalith inside. On microscopic observation, the lumen of the sac-like structure had normal small intestinal mucosa, without any ectopic gastric mucosa, pancreatic tissue, erosion, or ulcer (Figure 2).Figure 1.: Retrograde double-balloon enteroscopy showing (A) a bifurcated lumen in the ileum approximately 100 cm from the ileocecal valve and (B) a sac-like cavity with a blind end containing a giant fecalith.Figure 2.: Macroscopic and microscopic observation of the excised specimen showing that the lumen of the sac-like structure has normal small intestinal mucosa, without any ectopic gastric mucosa, pancreatic tissue, erosion, or ulcer.Based on these findings, we diagnosed the patient with duplication of the ileum. Here, the unique findings of retrograde DBE aided in making the diagnosis. The present case may be the first case in which ileal duplication with a giant fecalith was directly observed endoscopically. Previously, there have been only 3 reported cases in which intestinal duplication was detected using DBE.2–4 All these cases were adults with ileal duplication. Similar to our case, bifurcated lumen with a blind end was detected by retrograde DBE in 2 of these 3 cases.3,4 A case reported by Ogino et al only had a diverticular-like luminal opening, and a duplication cyst was confirmed postoperatively.2 Our case and previous reports indicate that DBE can be a useful tool for diagnosing intestinal duplication in adults, characterized by either a bifurcated or diverticular-like lumen with a blind end. DISCLOSURES Author contributions: All authors contributed equally to this manuscript. K. Endo is the article guarantor. Financial disclosure: None to report. Informed consent was obtained for this case report.

Anal Canal Duplication in Adults: Report of Five Cases

Anal canal duplications are very rare noncommunicating second anal orifices located posterior to the true anus. In this study, 5 adult cases of anal canal duplication are reported as extremely rare entities in the literature. The medical records of anal canal duplication patients treated from 2011 to 2014 were reviewed retrospectively. Five adult patients with symptoms of mucous discharge, anal pain, and or perianal fistula/abscess were admitted. Findings of physical examination and radiologic imaging (pelvic magnetic resonance, endoanal ultrasound, and or colonoscopy) suggested anal canal duplication. The mean age of patients was 40.4 ± 8.7 (range, 33–55), and the mean follow-up period was 18.4 ± 11.2 (range, 6–36) months. Histologic features of the removed samples confirmed anal canal duplication. All patients underwent complete surgical excision of the rudimentary anal canal. Anal canal duplication is a very rare congenital anomaly, and 5 additional adult cases are reported. Although this is a referral center, the recent accumulation of 5 adult cases of anal canal duplication suggests that this malformation might be more prevalent and frequently overlooked.

Presentation and Surgical Management of Duodenal Duplication in Adults.

Duodenal duplications in adults are exceedingly rare and their diagnosis remains difficult as symptoms are largely nonspecific. Clinical presentations include pancreatitis, biliary obstruction, gastrointestinal bleeding from ectopic gastric mucosa, and malignancy. A case of duodenal duplication in a 59-year-old female is presented, and her treatment course is reviewed with description of combined surgical and endoscopic approach to repair, along with a review of historic and current recommendations for management. Traditionally, gastrointestinal duplications have been treated with surgical resection; however, for duodenal duplications, the anatomic proximity to the biliopancreatic ampulla makes surgical management challenging. Recently, advances in endoscopy have improved the clinical success of cystic intraluminal duodenal duplications. Despite these advances, surgical resection is still recommended for extraluminal tubular duplications although combined techniques may be necessary for long tubular duplications. For duodenal duplications, a combined approach of partial excision combined with mucosal stripping may offer advantage.

Late presentation of anal canal duplication in adults: a series of four rare cases.

Anal canal duplication (ACD) is a very rare condition, especially in adults. Four cases in adults are reported. In three cases, the orifice of duplication was located behind the native anus, and in one case, it was located anteriorly. In all cases, no communication between the anal canal and the tract of duplication was noted. Complete removals of the duplications were done through a perineal approach. Histology showed fibro-muscular tissue lined with a squamous epithelium. The postoperative courses were uneventful.

Gastric Duplication Cyst: A Rare Congenital Disease Often Misdiagnosed in Adults

Gastrointestinal duplication is a rare congenital disease which affected more commonly the ileum, while the stomach is rarely involved. Generally diagnosed in paediatric or young age, it could be difficult to suspect a gastrointestinal duplication in adults. Herein, we report a 55-year-old male with a gastric duplication cyst found on routinely checkup for chronic hepatitis and first misdiagnosed as a gastrointestinal stromal tumor (GIST); we also discuss its embryology.

The MLL partial tandem duplication in adults aged 60 years and older with de novo cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) comprises nearly half of AML diagnoses annually, and historically, patients in this cytogenetic subgroup have been considered as being at intermediate risk for clinical outcomes. However, the outcome of these patients varies considerably based on the presence or absence of non-random genetic aberrations that can be used as risk stratification factors.1

Duplicated appendix complicated by appendiceal cancer

A 37-year old male presented with an acute abdomen suggestive of an appendiceal perforation. Urgent laparotomy showed a duplicated appendix with one of the lumens involved with appendicitis and a focal peri-appendicular abscess while the other lumen had a localized appendiceal cancer. Recognition of congenital intestinal duplications in adults is important to avoid serious clinical consequences.

Colorectal duplication in adults: report of seven cases and review of the literature

BackgroundGastrointestinal duplications are uncommon congenital abnormalities, usually recognised before the age of 2 (80%). Colorectal duplications (CDDs) occur in only 6.8% of cases, rarely in adults, and are revealed by...

Ulcerated small-intestine duplication cyst: an unusual source of GI bleeding revealed by wireless capsule endoscopy

Intestinal duplication cysts are uncommon congenital malformations. Duplication cysts can occur in any part of the GI tract, with the highest incidence in the ileum. More than 70% of the cases of intestinal duplications occur in children,1 and they usually become symptomatic early in life. Manifestations of intestinal duplication in adults are exceptionally rare. Conventional radiologic and endoscopic techniques to examine the small intestine provide only limited information about diseases in the small bowel.

Colonic duplication in adults: Report of two cases presenting with rectal bleeding

Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients, colonic duplication is encountered in adults only in a few cases. This study reports two cases of colonic duplication in adults. Both cases presented with rectal bleeding on admission. The study was focused on clinical, imaging, histological, and therapeutical aspects of the presenting cases. Gastrografin enema established the diagnosis in both cases. The cystic structure and the adjacent part of the colon were excised en-block. The study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of rectal bleeding.

FLT3 Internal Tandem Duplications in Adults with De Novo Acute Myeloid Leukemia.

FLT3 is a receptor tyrosine kinase involved in the proliferation and differentiation of hematopoietic stem cells. Recently, internal tandem duplication (ITD) mutations of the FLT3 gene have been described in patients with AML and associated with a poor prognosis. The aim of this study was to analyze the prevalence of FLT3-ITD in a series of 90 adults with de novo AML and correlate the presence of this mutation with biological characteristics and clinical response. We analyzed diagnostic peripheral blood or bone marrow specimens from 43 women and 47 men, with a median age of 38 years (16–83). Polymerase chain reaction was performed on genomic DNA using previously published primers for exons 11 and 12. An FLT3-ITD was found in 22/89 patients (25%). It was present in 37% (9/24) of the patients with acute promyelocytic leukemia (APL) and in only 20% (13/65) of the patients with non-M3-AML (p=0.07). The FLT3-ITD was not detected in patients with M6 (n=1) and M7-AML (n=3), nor in patients with the AML1-ETO (n=2) or with the CBFb-MYH11 (n=4) fusion genes. The median WBC counts were higher in FLT3-ITD patients than in those without the mutation (37 X 109/L vs. 27 X 109/L, p=0.43). In APL, FLT3-ITD was found in 5 out of 6 patients with the short PML-RARa isoform, but in only 4 out of 18 patients with the non-short isoform (p=0.01). Univariate analysis showed an association between the presence of FLT3-ITD and both a lower complete remission (CR) rate (41% vs. 64%; p=0.05) and a shorter overall survival (14% vs. 34%; p=0.03). However, FLT3-ITD was not associated with the CR rate (p=0.18) or the OS (p=0.07) in the multivariate analysis. The clinical significance of FLT3-ITD in adult AML remains uncertain, and further investigation is clearly warranted.

Contribution of endosonography (EUS) to the diagnosis of duodenal duplication in adults: Case reports

Contribution of endosonography (EUS) to the diagnosis of duodenal duplication in adults: Case reports

Cystic and tubular congenital duplication of the esophagus: two case reports

Congenital esophageal duplication is a very rare occurrence. The cystic type accounts for the majority of cases, while the tubular type is far less common. We report two cases of congenital esophageal duplication in adults, one of the cystic type and the other of the tubular type.

A Case of Duodenal Duplication

Abstract: Duplication of the duodenum is extremely rare. Including the present case, duodenal duplication in adults has been reported in only 20 cases in Japan. All previously reported cases underwent open surgery, and endoscopic resection has not previously been reported. In this report, we describe a patient in whom a duodenal duplication was endoscopically resectable, demonstrating the usefulness of endoscopic resection for the treatment of this malformation.

Duplication of the cecum and appendix; report of a case.

Areview of the literature discloses reports of 9 cases of cecal duplication in adults. Lotheissen (8) reported an example in a 21-year-old female. Evans (3) described a case in a 29-year-old male with intermittent griping lower abdominal pains and a mass in the right lower quadrant. Hughes-Jones (4), reviewing 55 enterogenous cysts of the gastrointestinal tract, found 4 involving the cecum; in adults :21,21,23, and 29 years of age, respectively. Kunath et al. (5) reported a case in a 63-year-old man with attacks of shifting :gaseous distress accompanied by diarrhea. Patterson's patient was a 19-year-old male with right lower quadrant pain and constipation (9). Consiglio (2) observed an example in an aged patient with ileocecotransverse colon invagination led by a cecal enterocystoma. Ladd and Gross (6) define duplications as “spherical or tubular structures which possess a well developed smooth muscle layer and are lined by mucous membrane; they are found at any level from the tongue to the anus, usually intimately attached to some portion of the alimentary tract.” The term is synonymous with “enteric cyst,” “enterogenous cyst,” “inclusion cyst,” etc. Duplications share a common blood supply with the intestinal tract. Because of their congenital origin, they usually become symptomatic early in life, and are discovered in infancy or childhood. The embryologic theories of Bremer (1), Lewis and Thyng (7), and others are adequately covered elsewhere and will not be reviewed here. Report of a Case A 44-year·old Negro woman was admitted to the hospital because of epigastric pain and fresh rectal bleeding of three days duration. She had lost 23 pounds since a similar episode one month previously. A year earlier the patient had experienced several days of diarrhea accompanied by the passage of bright red blood. Physical examination disclosed a small movable mass in the right lower quadrant of the abdomen. A barium enema study showed a persistent filling defect along the medial border of the cecum (Fig. 1). Reflux into the terminal ileum could not be obtained. Barium administered orally outlined the cecum and the appendiceal lumen on the twenty-four-hour film (Fig. 2). Thus antegrade filling failed to show the defect demonstrated by retrograde studies. Because of the possibility of cecal cancer, the intestinal tract was resected from the terminal ileum to mid-ascending colon. Examination of the specimen (Fig. 3) disclosed a congenital duplication of the cecum and appendix.