bluuebunny/crossref_metadata_2025 huggingface dataset:
1486 Rectal Melanoma Occurring in a Properly CRC Screened Patient
Authors: Wojtkowski Antoni , Pandit Sarbagya , Karadsheh Zeid , Atia George , Chalise Shyam
Published: October 2019

INTRODUCTION:

Rectal melanoma is a very rare, highly aggressive malignancy. Anal melanoma is the 3rd most common melanoma after the cutaneous and ocular varieties. It is the most common site of primary GI melanoma. Cutaneous melanoma metastasizes to the GI tract only 2% of the time, and only 2% of these metastases are to the rectum.

CASE DESCRIPTION/METHODS:

A 68-year-old male with a past medical history of HTN presented for evaluation of changed bowel movements. His stool diameter had decreased, and he noticed bright red blood mixed with his stool. He sometimes experienced fecal urgency, with no output. Rectal bleeding occurred just before or with bowel movements. He recently changed his diet, because of constipation. He recently lost 10 lbs. unintentionally. He did not use NSAIDs aside from aspirin 81 mg qd. He had a colonoscopy 5 years ago, with a 2 mm polyp removed (no abnormality seen on pathology). He had no family history of colon cancer. He was a retired chiropractor. A colonoscopy was performed, which found a suspicious lesion in the rectum (biopsied). Pathology showed pigmented melanoma. EUS staged the rectal mass as uT2uN1. Immunostains of the biopsy were performed: CK20-, CDX2-, p63-, S100 focally positive, HMB45 diffuse and strongly positive. No evidence of cutaneous melanoma was found. He was referred for surgical and oncology evaluation and treatment. He successfully underwent laparoscopic abdominal perineal resection with end colostomy. 9/10 sampled lymph nodes during surgery were positive for melanoma. He was started on nivolumab/ipilimumab dual therapy. He proceeded to undergo chemotherapy as outpatient (currently on chemotherapy cycle 2).

DISCUSSION:

Anorectal melanoma is a rare disease, accounting for ∼ 0.05% of all colorectal malignancies, and 1% of all anal cancers. Risk factors for anorectal mucosal melanoma are not currently known, although there is an increased risk associated with HIV infection. Survival is poor, depending on staging (Stage I – 24 month median survival; 5-year survival 26.7%, Stage II – median survival 17 months; 5-year survival 9.8%, Stage III – median survival 8 months; 5-year survival 0%). Adjuvant therapy consists of radiotherapy, however adjuvant immunotherapy with nivolumab has an established role in treating lymph node involvement. Anti-CTLA4 monoclonal antibody ipilimumab has been shown to significantly prolong survival in cutaneous melanoma, however more investigation is necessary to clarify role of ipilimumab in patients with mucosal melanoma.
1488 Melanoma Immune Checkpoint Inhibitors-Induced Colitis, Stay Vigilant!
Authors: Khalaf Suha Abu , Albarrak Abdulmajeed , Yousef Mohamad , Tahan Veysel , Ibdah Jamal A.
Published: October 2019

INTRODUCTION:

Immunotherapy can induce multiple immune-related adverse events; one of them is colitis. We are presenting a case of colitis in a 37-year-old male who presented with a passage of loose bloody stool, abdominal pain with tenesmus. Colonoscopy with colon biopsies confirmed the diagnosis. Interestingly, the patient developed severe adverse reaction with colitis within five days following his first immunotherapy cycle.

CASE DESCRIPTION/METHODS:

A 37-year-old man presented with irregular, loose and bloody bowel movements that were associated with generalized abdominal pain for a week. The patient was newly diagnosed with metastatic melanoma to the left axially lymph nodes (T0, N3c, M0) that was positive for BRAF mutation. Treatment with nivolumab and ipilimumab were initiated five days before the time of his presentation. Lab workup showed elevated white cell count and liver transaminases fitting hepatocellular injury pattern. Stool testing for bacterial enteropathogens and Clostridium difficile were negative. CT scan of the abdomen showed mild wall thickness associated with inflammatory changes in the transverse and descending colon. The patient was started on empiric antibiotics with ciprofloxacin and metronidazole upon admission awaiting pending cultures, in addition to empiric prednisone as well. He then underwent colonoscopy the following day, which showed diffuse erythema and ulcers in the entire colon and rectum. The terminal ileum was unremarkable. Colonic biopsies were obtained and showed acute inflammation with severe ulceration and granulation tissue. Based on these findings, the diagnosis of immunotherapy-induced colitis grade 4 was established. The patient had a total of two months of prednisone treatment. His immunotherapy was switched to BRAF/MEK inhibitors.

DISCUSSION:

Since the time of approval of the immune checkpoint inhibitors for the treatment of advanced melanoma, impressive improvement in survival rates and extension of their use to other malignant fields have been observed, but on the other hand, autoimmune-related side effects have arisen. Studies have reported that the median time to onset of diarrhea is 5-8 weeks after the start of a combination therapy that includes Ipilimumab. Our patient was undergoing treatment with both nivolumab and ipilimumab, and the symptoms started acutely 5 days after the first treatment session. The patient was found to have colitis grade 4 based on the Common Terminology Criteria for Adverse Events (CTCAE) V.4.
1490 Ursodeoxycholic Acid for the Management of Recurrent Clostridioides difficile Infection
Authors: Perreault Gabriel , Baylor Jessica , Radin Arielle , Javitt Norman , Chen Lea Ann
Published: October 2019

INTRODUCTION:

Fecal microbiota transplant (FMT) is an effective treatment for recurrent Clostridioides difficile infection (rCDI), but its precise mechanism remains unknown (1-2). Recent studies suggest that the restoration of gut bacteria, which carry necessary enzymes to convert primary bile acids (PBAs) to secondary bile acids (SBAs), may play a key role in rCDI risk (3, Figure 1). For example, in vitro studies have demonstrated that PBAs stimulate C. difficile spore germination and that deoxycholic acid, a SBA, inhibits toxin-producing C. difficile (4). As normal fecal bile acid pools consist predominantly of SBAs, we hypothesize that a contributor of rCDI risk is the decrease in SBAs from enteric bacteria loss following antibiotic use (5-8). We present the first case enrolled in our clinical trial using ursodeoxycholic acid (UDCA), a SBA, as an adjunct treatment to prevent future rCDI.

CASE DESCRIPTION/METHODS:

An otherwise healthy 46-year-old man presented with S. aureusbacteremia secondary to septic knee arthritis. While on an extended course of cefazolin, he developed profuse, watery diarrhea and stool C. difficile toxin PCR was positive. He was then treated with intravenous metronidazole for one week and oral vancomycin for two weeks, with resolution of symptoms. Six weeks later, CDI recurred and was successfully treated with oral vancomycin for two weeks, in conjunction with concurrent UDCA 300 mg twice daily for eight weeks. Stool samples were collected at two-week intervals and fecal bile acid compositions were assessed via liquid chromatography - mass spectrometry. Fecal bile acid analyses demonstrated a shift towards protective SBAs by the end of the 8-week course of ursodiol (Figure 2). This profile of increased SBAs remained consistent despite subsequent retreatment with cefazolin at 5 months for recurrent septic arthritis. The patient has been without rCDI now for almost 2 years.

DISCUSSION:

The findings in this case are consistent with our hypothesis that increasing SBAs through adjunct treatment with UDCA can be effective in breaking the rCDI cycle. While some CDI patients have adequate enteric bacteria to produce SBAs after antibiotic treatment, others may have a delayed normalization of their gut microbiome, and may therefore require “bridge therapy” with supplementary SBAs (e.g., UDCA) until their endogenous microbial community is restored. Treatment and analysis of additional patients with rCDI in this clinical trial are in progress.
1496 Visceral Involvement as the Initial Presentation of Kaposi Sarcoma Carries a Worse Prognosis
Authors: Ashamalla Michael , Wander Praneet , Pizzuti Jessica , Lech Diana , Rishi Arvind , Vitkovski Taisia , Greenberg Ronald
Published: October 2019

INTRODUCTION:

AIDS-related Kaposi sarcoma (KS) is a vascular tumor associated with infection by the human herpesvirus-8 (HHV-8) that most commonly affects mucocutaneous sites. In its disseminated form, it can also involve lymph nodes and visceral organs, in particular the respiratory and gastrointestinal tract. Visceral involvement as the initial manifestation of KS is extremely rare and carries a worse prognosis. We present a case of a 54-year-old Male with disseminated KS with rectal involvement presenting with cough and chills.

CASE DESCRIPTION/METHODS:

54-year-old Male with a past medical history significant for HIV, not adherent with HAART therapy, who presented to the Emergency Department (ED) with a chief complaint of cough and subjective chills of three days duration. He later endorsed recent sick contacts, bloody diarrhea, and a 40 lb weight loss over the last year. In the ED, he was hypotensive and tachycardic and found to have a CD4 13 with a viral load of 3 million copies/ml. A CT Chest showed evidence of bilateral pleural effusions for which he was started on broad spectrum antibiotics. He underwent bronchoscopy with BAL which showed small nodules suspicious for KS versus Lymphoma. His hospital course was complicated by microcytic anemia (Hb 6.1 on admission) with a positive fecal occult test requiring multiple blood transfusions. Gastroenterology was consulted and the patient underwent colonoscopy which showed evidence of a large, non obstructing, fungating mass in the distal rectum. The mass had a purple hue, was noncircumferential, and was confluent with multiple scattered oozing purple sessile nodules. Biopsies were taken with cold forceps for histology. The rectal biopsy was positive for Human Herpes Virus 8 (HHV-8) and he was diagnosed with disseminated KS. He was subsequently transferred to the National Institutes of Health Clinical Center in Maryland after failed initial treatment for further management and care.

DISCUSSION:

Visceral involvement as the initial presentation of KS is rare and carries a worse prognosis. While gastrointestinal KS lesions are usually asymptomatic, they may also cause a wide array of symptoms including nausea and vomiting, weight loss, upper or lower gastrointestinal bleeding, and abdominal pain. Because visceral involvement is rare as the initial presentation, the possibility of disseminated KS in an immunocompromised patient is often over looked and thus, a high index of suspicion is required.
1498 A Rare Case of an Atypical Mass Involving the Sigmoid Colon
Authors: Sayad Michelle , Ramay Fariha , Goldberg Eric
Published: October 2019

INTRODUCTION:

The etiology of colonic masses is broad including benign polyps, primary adenocarcinoma, metastases, and diverticular mass. Presentation may be similar; therefore, the differentiation generally involves biopsy for histological evaluation and appropriate diagnosis.

CASE DESCRIPTION/METHODS:

A 34-year-old female presented with hematochezia and constipation. Her past medical history was significant for tubo-ovarian ovarian abscesses (TOAs), endometriosis fibroids and schwannoma of the paraspinal area. She reported new onset red blood per rectum, worsening constipation, and pelvic discomfort. Family history was notable for esophageal and colorectal cancer. She subsequently underwent colonoscopy which demonstrated a 3-4 cm nodular, polypoid fungating mass in the distal sigmoid colon located at 20-25 cm from the anal verge (Figure 1). Biopsies were obtained and the site was tattooed. A subsequent MRI of the abdomen and pelvis showed a heterogeneous inflammatory soft tissue encasing the ovaries and tethering the rectosigmoid colon (Figure 2). Additionally, there was a enhancing soft tissue mass invading the inferior wall of the distal sigmoid colon with an intraluminal component. The MRI findings were felt to be consistent with invasive endometriosis. Histological examination of the sigmoid mass showed colonic mucosa with polypoid endometriosis without evidence of malignancy (Figure 3). Cells showed positive immunohistochemical staining consistent with endometriosis. Surgical resection was recommended.

DISCUSSION:

This case demonstrates the importance of having a high suspicion of endometriosis involving the bowel in reproductive age women presenting with abdominal pain, dysmenorrhea, dyspareunia, and dyschezia. Endometriosis is a condition involving the implantation of endometrial stroma and glands at extra-uterine sites. Endometriosis tends to involve bowel serosa. It rarely encompasses full thickness of the bowel wall. The latter represents invasive endometriosis. Many patients are incorrectly diagnosed given their presentation. This disease increases risk of gastrointestinal tumors, primarily adenocarcinoma. Therefore, prompt recognition and treatment with hormonal therapy or surgical excision is important for symptom relief, increase in fertility, and later complications such as bowel stenosis, hydronephrosis, and malignant transformation.
1512 A Rare Case of Sigmoid Leiomyoma Disguised as a Polyp
Authors: Patel Kalpesh , Patel Pavan , Rodriguez Raul , Galan Mark A. , Shulik Oleg
Published: October 2019

INTRODUCTION:

Colonic leiomyomas are smooth muscle tumors which arise from either the muscularis mucosa or the proper muscle layer. Colonic and rectal leiomyomas are rare tumors and represent only about 3% of all gastrointestinal leiomyomas. Most patients are asymptomatic; however, some can have symptoms of abdominal pain, intestinal obstruction, hemorrhage, and perforation when the leiomyoma is of larger size. We present a case of sigmoid leiomyoma encountered on routine colonoscopy.

CASE DESCRIPTION/METHODS:

A 52-year-old man from Ecuador with a past medical history of hypertension, gastritis, osteoarthritis of the knees, presented to the clinic for evaluation of GERD symptoms. He was also due for repeat colonoscopy for surveillance of colon polyps. He underwent routine EGD and colonoscopy. EGD findings and biopsies of the stomach were unremarkable. The patient underwent a colonoscopy and was found to have an 8 mm sessile polyp seen in the sigmoid colon. The polyp was resected with cold snare and sent to pathology. The bowel preparation was excellent. Pathology revealed colonic mucosa containing smooth muscle proliferation. Immunostain with smooth muscle actin (SMA) supported the diagnosis.

DISCUSSION:

Leiomyomas have been first described by Virchow in 1854. They are usually considered benign and arise in the uterus, but may also be found in the skin, nipple, scrotum, and labia. Leiomyomas are less frequently encountered in the GI tract, and when found, are primarily seen in the esophagus or stomach. The management of leiomyomas is surgical resection, however, with the evolving field of gastroenterology, endoscopic removal is considered an alternative for resection. Given leiomyomas arise from the muscularis mucosa or the proper muscle layer, endoscopic resection represents a higher risk of perforation. Submucosal injection technique can be used to identify which layer the leiomyoma arises from. If the lesion cannot be lifted using a submucosal injection of saline, the lesion may have deep submucosal invasion or can originate from the proper muscle layer. This risk for perforation is higher when the leiomyoma arises from the proper muscle layer and it is a contraindication to endoscopic removal. We represent a rare case of sigmoid leiomyoma which was removed using endoscopic technique without any complication of perforation or bleeding.
1517 No Microscope Needed: A Macroscopic Presentation of Collagenous Colitis
Authors: Boyd Amanda L. , Vargas Pedro , Leiman David , Dufault Darin
Published: October 2019

INTRODUCTION:

Microscopic colitis (MC) is a common cause of chronic secretory diarrhea. Diagnosis has been considered to be histopathologic with otherwise normal-appearing colonic mucosa. However, accumulating evidence suggests distinct endoscopic features may be associated with MC. We present a rare case of MC that illuminates the importance of recognizing these macroscopic findings as they not only aid in diagnosis but also have significant management implications.

CASE DESCRIPTION/METHODS:

A 61-year-old female with rheumatoid arthritis presented with one month of watery, non-bloody diarrhea. She reported lower quadrant, crampy abdominal pain and a 20 lb weight loss. Her medications included pantoprazole 20 mg, escitalopram 20 mg, and ibuprofen three times weekly. Physical exam demonstrated diffuse abdominal tenderness and laboratory assessment revealed acute renal insufficiency and ESR of 28 (normal range: 0-15). Infectious stool studies were negative. A CT abdomen/pelvis revealed diffuse colonic wall thickening and mild mucosal hyperenhancement consistent with pancolitis. Colonoscopy revealed diffuse erythematous mucosa and multiple shallow, linear mucosal rents were created with minimal insufflation of CO2 during scope insertion. Targeted biopsies were taken and pathology demonstrated significant subepithlial collagen deposition consistent with a diagnosis of severe collagenous colitis (CC).

DISCUSSION:

While endoscopic findings may occur in up to 16.5% of patients with MC, only 1.1% of cases detail isolated linear ulcerations. Association with transmural inflammation is even more rare and to our knowledge this is the first report of CC with both radiographic evidence of pancolitis and discrete mucosal ulcerations. It has been hypothesized that collagen deposition reduces colonic compliance predisposing to mucosal tears that may herald colonic perforation. Although some studies suggest similar diagnostic yields between right versus left-sided biopsies (98.7% v. 98.9%), there are no descriptions of targeted biopsies in this condition. While our patient did not have any noted procedural complications, a flexible sigmoidoscopy may have been sufficient for a diagnosis. This case highlights an atypical presentation of CC with pancolitis and discrete endoscopic lesions that should prompt endoscopists to alter management. Flexible sigmoidoscopy with CO2 insufflation or water emersion should be considered in patients with macroscopic findings of MC, but the case should be aborted if deep mucosal tears occur.
1518 Malone Antegrade Continence Enema for Treatment of Adult Slow Transit Constipation in Ehlers-Danlos Syndrome
Authors: Wade Francis , Al-Taee Ahmad M. , Ghoulam Elie , Prather Charlene
Published: October 2019

INTRODUCTION:

Ehlers-Danlos syndrome hypermobility type (EDS-HT) is a multisystem disorder characterized by joint and spine hyperextensibility that may also involve the gastrointestinal (GI) tract resulting in various motility disorders. The Malone antegrade continence enema (MACE) procedure is most commonly used to treat severe constipation in children with neurogenic bowel disorders. We describe a case of severe EDS-HT related refractory constipation in an adult that was treated with the MACE procedure.

CASE DESCRIPTION/METHODS:

22-year-old female with history of EDS-HT and mast cell activation disorder presented to our clinic for evaluation of chronic constipation, food regurgitation, nausea, and vomiting. Workup included a gastric emptying study showing gastroparesis, a colonic transit study showing slow transit, anorectal manometry showing a weak anal sphincter but no signs of dyssynergic defecation, and a proctogram showing normal emptying with a weak pelvic floor and excessive descent. Clinical course was complicated by recurrent attacks of nausea, vomiting, and abdominal pain without evidence of obstruction resulting in repeated emergency room visits. Chronic constipation was attributed to dysmotility from EDS-HT. Various combinations of osmotic and stimulant laxatives were utilized with inadequate response. She elected to undergo MACE procedure. Her symptoms gradually resolved after the procedure and she started having one bowel movement daily with a simplified bowel regimen including once daily antegrade enemas.

DISCUSSION:

The pathophysiology of GI dysmotility in EDS-HT is not completely understood but possible mechanisms include altered biomechanical properties and gut neurodevelopmental changes from extracellular matrix abnormalities. The MACE procedure involves laparoscopic placement of an appendicocecostomy tube to allow daily enema administration at the level of the cecum (Figure 1). This procedure is most commonly utilized in children with neurogenic bowel disorders but should also be considered in adult EDS-HT patients with constipation refractory to medical therapy. This case highlights the potential for severe morbidity in EDS-HT-related GI dysmotility disorders and sheds light on the therapeutic potential of the MACE procedure in this patient population.
1521 Case Series of 5 Patients Detected With Gut Fermentation Syndrome
Authors: Malik Fahad , Wickremesinghe Prasanna , Kalinga Himanga , Saverimuttu Jessie
Published: October 2019

INTRODUCTION:

Gut fermentation syndrome (GFS) is a rare medical phenomenon in which ingestion of carbohydrate meals results in alcohol production through different biochemical pathways. These patients are presumed to have intestinal yeast fermenting carbohydrate to alcohol. This is due to fungi overgrowth in the digestive tract. This can often result in alcohol toxicity without any exogenous alcohol intake. The aim of this study was confirmation and treatment of GFS using a standardized carbohydrate challenge test followed by upper and lower endoscopy to obtain intestinal secretions to detect fungal growth.

CASE DESCRIPTION/METHODS:

This presents five patients who presented with implications of alcoholism while denying use any exogenous alcoholic beverages. A long detailed history and physical examination was conducted in order to screen these patients whose symptoms were unlikely due to exogenous drinking. All other possible primary causes were ruled out. There are currently no established diagnostic criteria to confirm GFS or treat this condition. We therefore propose the following protocol for this. It was important to make certain that patients with suspected GFS who have elevated blood or breath alcohol levels were not surreptitiously drinking. In our provocative carbohydrate challenge test, we gave the patients 200 g of glucose by mouth after an overnight fast with blood drawn at timed intervals of 0, 1/2, 1, 2, 4, 8, 16, and 24 hours for glucose and blood alcohol levels. This test was aborted early if alcohol levels become elevated in the first few hours. This used algorithm, carbohydrate challenge results and a comparison of all five patients is shown in the Table 1 format. If any elevated serum alcohol was detected without any drinking then these patients were recommended to participate for further testing. Routine laboratory testing and stool microbiome were sent for specification. Upper and lower endoscopy were performed during which secretions were collected for bacterial and fungal cultures along with biopsies to further study.

DISCUSSION:

Any patient denying alcohol ingestion but who has elevated alcohol levels should be investigated. The earliest symptoms of GFS may be mood changes. Some of the patients were bought to us by a concerned family member. This condition was treated with dietary modifications, antifungal therapy, and probiotic use in our patients. We are only starting to recognize the complexity of this condition and are currently studying more patients using the proposed protocol.
1525 Atypical Presentation of Colon Cancer: Colon-Vaginal Fistula
Authors: Salas Noain Jesus M. , Gudipally Sindusha , Zheng Shengnan , Amaral Rafael
Published: October 2019

INTRODUCTION:

A fistula is an abnormal communication between two epithelialized surfaces. Colovaginal fistulas usually present with stool or flatus per vagina, foul-smelling vaginitis resistant to treatment, previous hysterectomy, and history of diverticulitis. In this case report, we present colon cancer as a possible new risk factor for colo-vaginal fistula.

CASE DESCRIPTION/METHODS:

53 years old female with a past medical history of external hemorrhoids and GERD presented to the emergency department (ED) for evaluation of right lower quadrant abdominal pain for over a month associated with passing fecal material through her vagina for the past 2 days. The patient also reported having loose stools approximately 2 weeks prior to ED visit. She also reported decreased appetite, lightheadedness, 60 lb weight loss since last year, and significant rectal bleeding with straining which she attributed to hemorrhoids. She reported having an unremarkable colonoscopy 10 years prior to presentation. She denied any history of diverticulosis, ulcerative colitis, Chron's disease, radiation therapy, or family history of cancer. However, she did have a history of hysterectomy for the treatment of endometriosis 15 years ago. On arrival, she was found to have a hemoglobin of 5.4 g/dl. Physical exam was significant for pale mucous membranes, tachycardia, and fecal material in the vaginal canal. CT scan showed a ring-enhancing fluid collection interspersed between the vaginal cuff, and sigmoid colonic bowel loop, a colovaginal fistula between the vaginal cuff and the sigmoid colon, and wall thickening of the sigmoid colon measuring up to 1.5 cm. Colonoscopy showed a large friable obstructive mass seen at 20 cm from the anal verge. Biopsies of the sigmoid mass showed invasive, moderately differentiated adenocarcinoma.

DISCUSSION:

This patient has a history of total abdominal hysterectomy which is a known risk factor for the development of fistula; however, the hysterectomy was done 15 years before the appearance of the fistula, suggesting that the surgical procedure was not the primary cause of the development of the fistula. Inflammatory bowel disease and infectious process were ruled out by colonoscopic and histologic findings. From this case, we can learn that colon cancer can mimic other conditions such as Crohn's disease or complicated infectious process, therefore colon cancer should be part of the differential diagnosis of colo-vaginal fistulas and peri-colonic abscesses.
1529 An Interesting Presentation of Solitary Rectal Ulcer Syndrome Mimicking a Rectal Mass
Authors: Waintraub Daniel J. , Fazio Richard M. , Weinberger Jonathan , Srikanthan Roshan , Tu Jiangling , Rahmani Rabin , Iswara Kadirawelp
Published: October 2019

INTRODUCTION:

Solitary Rectal Ulcer Syndrome (SRUS) is an uncommon benign disease. The diagnosis is based on clinical features, proctosigmoidoscopy findings, and histopathology. Men and women are equally affected. The term SRUS is a misnomer as ulcers are only found in 40% of patients and a solitary ulcer is only identified in 20% of patients. Clinical features include rectal bleeding, mucus discharge, excess straining, perineal or abdominal pain, sensation of incomplete evacuation, constipation or rectal prolapse. Characteristic histologic features include obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. We present a case of SRUS presenting as a rectal mass.

CASE DESCRIPTION/METHODS:

A 70 year old female with a history of hepatitis C and colon polyps presented after a hospital admission for infectious colitis. Colonoscopy revealed a 3 cm multi-lobulated rectal polyp with superficial ulceration approximately 10 cm from the anal verge. Endoscopic mucosal resection was performed with complete piecemeal resection. Histopathology revealed solitary polypoid growth (Figure 2), fibromuscular hyperplasia and obliteration of the lamina propria (Figure 3) suggestive of solitary rectal ulcer syndrome. The patient was managed with a strict high fiber diet.

DISCUSSION:

The etiology of SRUS may include ischemia due to impacted stools and local trauma from self-disimpaction. 25% of SRUS cases may present as a polypoid lesion, 18% as patchy mucosal erythema and 30% as multiple lesions. Given the wide variety of presentations, rectal biopsies are critical for diagnosis. Anorectal physiology studies indicate 24-82% of patients with this condition may have dyssynergia with paradoxical anal contraction. Treatment options include diet and bulking agents, biofeedback therapy, and surgery. The differential diagnosis includes inflammatory bowel disease, ischemic colitis and malignancy. Our case highlights the variable presentations of SRUS and its ability to mimic advanced adenoma and rectal malignancy. Gastroenterologists must carry a high index of suspicion for SRUS when approaching rectal lesions in the proper clinical context.
1542 No Ordinary Colon Polyp: Schistosomiasis
Authors: Lanka Chandana , McMillan Natasha , Ibrahim Mohd Elmugtaba , Ali Walid , Mekasha Getachew , Aduli Farshad
Published: October 2019

INTRODUCTION:

Schistosomiasis, is a common parasitic diseases affecting over 200 million people caused by blood flukes of the genus Schistosoma. It is prevalent in tropical areas, particularly in agricultural fishing communities and places with poor water sanitation. Transmission occurs when the cercariae, the infectious form of the parasite, is released from fresh water snails and penetrates human skin. Larvae then mature in the human blood vessels that supply the intestines and genitourinary system. Schistosomiasis commonly involves the intestinal system, it is rare however, for it to present as a large colon polyp.

CASE DESCRIPTION/METHODS:

A 31-year-old Ethiopian male presented with diffuse abdominal pain and bloody diarrhea for 5 years. A colonoscopy performed 5 years ago at the onset of symptoms was notable only for mild colitis. Due to the persistence of symptoms, he underwent a repeat exam that revealed a normal terminal ileum, cecum, and transverse colon. Mild colitis was seen in the ascending and sigmoid colon. There was moderately severe colitis in the rectum. These areas were biopsied. In addition, a single 2.1 × 2.1 × 1.1 cm pedunculated polyp was found in the sigmoid colon which was removed by snare polypectomy. The polyp was found to contain calcified Schistosoma eggs and worms. The rectal biopsies also showed Schistosoma and multiple calcified eggs. Examination of both the gross and microscopic specimens confirmed the diagnosis of Schistosomiasis mansoni.

DISCUSSION:

Schistosomiasis affects 10% of the population worldwide and is endemic in Africa, Asia and South America. Patients with Schistosomiasis may present with abdominal pain, bloody diarrhea, anemia, and weight loss as seen in this patient. Endoscopic findings include colitis, mucosal granularity and friability, punctate ulcers, and hemorrhage. Schistosomiasis may also present as an inflammatory polyp. Microscopically, this Th2 cell mediated inflammatory responseis due to the reaction to ova. Worms are known evade the immune response. During the active phase, intense inflammation, granulomas and increased eosinophils can be seen. In the chronic phase, there is less inflammation, however fibrosis, and calcified ova are seen. Calcified eggs, seen in this patient's biopsy, parallels his 5 years of symptoms. Praziquantel is the treatment of choice for schistosomiasis. It is given as a single dose and is most effective four-six weeks after exposure because it does not work on larval forms of Schistosoma. It is curative in 85% of cases.
1552 A Tale of Two Ganglioneuromas
Authors: Lopez Carmen , Staudinger Robin , Kovacic Dianne , Humphrey Felicia
Published: October 2019

INTRODUCTION:

Ganglioneuromas are rare benign tumors of nerve fibers, ganglion cells, and supportive cells that rarely occur in the GI tract. GI ganglioneuromas come in three forms including solitary polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. These classifications are vital to recognize as some are associated with genetic syndromes which require close cancer surveillance. Here we present two cases of ganglioneuromas: one as a solitary ganglioneuroma and the other as part of a hereditary syndrome.

CASE DESCRIPTION/METHODS:

Patient 1 was a 61 yo man with hypertension. Screening colonoscopy revealed a 1.3 cm pedunculated polyp in the ascending colon. Path revealed spindle cell proliferation expressing S-100, consistent with ganglioneuroma. EGD was normal. After confirmation of complete removal, he will proceed with standard screening intervals. Patient 2 was a 52 yo man with OSA and skin lipomas. Screening colonoscopy revealed polyps too numerous to count dispersed throughout. Biopsies showed a mix of ganglioneuromas, tubular adenomas, and hyperplastic polyps consistent with ganglioneuromatous polyposis. Genetic testing identified a PTEN mutation confirming Cowden Syndrome. He was then scheduled for an EGD, repeat colonoscopy in 6 months, and cancer screening per ACG Hereditary Cancer Guidelines.

DISCUSSION:

While both patients had ganglioneuromas, the management was significantly different. Patient 1 had a solitary ganglioneuroma, which is often found incidentally. Due to their benign nature, solitary ganglioneuromas do not necessitate more frequent screening. Ganglioneuromatous polyposis, as seen in patient 2, is associated with Cowden syndrome and diagnosed by a PTEN mutation. Patients have multiple types of polyps, including ganglioneuromas. They must get regular cancer screening of the colon, breast, thyroid, skin and kidney. Current recommendations are to repeat colonoscopies usually every 2 years depending on findings. Diffuse ganglioneuromatosis often appears as thickening of the bowel with involvement of the myenteric plexus. This is associated with MENIIB and more rarely Neurofibromatosis type 1. This may be handled conservatively but if obstruction results then resection of the involved bowel may need to be considered. Recognition of these presentations takes careful consideration including detailed history and physical exam to ensure correct diagnosis, which may tailor future cancer surveillance programs for patients diagnosed with polyposis syndromes.
1556 IBD Mimicker: Vascular Ehlers-Danlos Presenting as Spontaneous Bowel Perforation
Authors: Hanada Yuri , Kane Sunanda
Published: October 2019

INTRODUCTION:

Many diseases can mimic the clinical presentation of inflammatory bowel disease (IBD). Careful history to establish an event timeline that includes symptom onset and evolution, physical exam, imaging, pathology, and endoscopy can help narrow the differential. Here, we present a case of spontaneous colonic perforation due to vascular Ehlers Danlos Syndrome (vEDS) that was initially treated as IBD.

CASE DESCRIPTION/METHODS:

A 35 year old male with past medical history of childhood retinoblastoma s/p resection and chronic constipation (unremarkable colonoscopy 3 years prior) presented to clinic for a second opinion on a recent diagnosis of IBD. He had been in his usual state of health until 6 months prior to consultation, when he developed abdominal distension, followed by diffuse abdominal pain and vomiting. CT identified a bowel transition point in the mid-abdomen with pneumoperitoneum, prompting emergent exploratory laparotomy, during which sigmoid colon perforation was identified. Notably, no diverticular disease was present near the perforation site and the operative report commented on significant friability and tearing of the mesentery and small bowel. He ultimately underwent sigmoidectomy, ileocecetomy, and colonic mucous fistula creation. A commercially available IBD panel test returned positive and the patient was treated as presumptive Crohn Disease with infliximab, as well as frequent prednisone tapers. Upon referral to our center, the surgical pathology was reviewed and acute findings consistent with perforation were noted; no chronic inflammatory changes were found on either colonic or small bowel samples. CT enterography was unremarkable with respect to the bowel; however, the study incidentally identified dissection of the right common iliac down to the proximal superficial femoral artery. The patient was referred to Clinical Genetics, with subsequent testing revealing a COL3A1 mutation, diagnostic for vEDS.

DISCUSSION:

A broad differential beyond IBD should be maintained in cases of spontaneous bowel perforation. Unexpected tissue fragility should raise the possibility of a connective tissue disorder, and genetic testing is indicated if the perforation originates from the sigmoid in particular, as this is one of the major vEDS diagnostic criteria. In gastroenterology practice, unnecessary endoscopic procedures should be avoided whenever possible, and in cases where surgery is required, experienced colorectal surgeons should be consulted.
1561 Appendiceal Colic Intussusception Due to Mucocele of Appendix: Is Appendectomy Alone Sufficient?
Authors: Patel Saumil , Ghosh Sudeshna , Jiyani Rucha , Aswani Yashant
Published: October 2019

INTRODUCTION:

Mucocele of appendix is a rare clinical entity (0.2-0.3% of appendectomy specimens) with obstruction to drainage of mucus from the appendicular lumen. Rarely, does it manifest as bowel obstruction owing to intussusception of mucocele of appendix (0.01%). Diagnosis of mucocele or its intussusception is radiological, can't differentiate if the cause of obstruction is a benign or a malignant process.

CASE DESCRIPTION/METHODS:

A 40 year female presented with complaints of right lower quadrant pain since a few days, was dull, aching, intermittent, associated with nausea without any obvious aggravating or relieving factors and history of trauma to the abdomen or previous surgery. Abdominal examination revealed tenderness in right lower quadrant without any guarding or rigidity and lump could be felt in the same quadrant. On auscultation sluggish bowel movement. An abdominal CT: intussusception of mucocele of appendix of 4.5 × 3.1 × 2.5 cm. Open appendectomy was planned to avoid accidental spillage of contents and resected margins and regional nodes were negative for malignancy as per histopathology. The postoperative period was uneventful.

DISCUSSION:

A Mucocele of appendix (MOA) is an abnormal accumulation of mucus in appendix. A cystadenoma, mucosal hyperplasia, retention cyst or mucinous cystadenocarcinoma may be the cause of this obstruction. Multi-detector CT is imaging of choice, classic appearance of a well circumscribed, fluid-filled, distended appendix. Presence of mural calcification differentiate from appendicular abscess. Further, an intussusception of MOA has been likened to a cup & ball pattern. However, features like enhancing mural nodules within the mucocele/size >2 cm point towards a malignant cause. Definitive management is surgery, a mucocele with compromised base, >2 cm require a primary typhlectomy, otherwise a primary appendectomy suffices. Hence, open surgery is preferred over laparoscopic to prevent spillage. Positive margins and/or lymph node involvement translates into right hemicolectomy. A cystadenoma is followed up like an adenomatous polyp while follow up similar to colonic carcinoma is employed in cases of cystadenocarcinoma of appendix.
1568 Don't Skip the Retroflexion: A Case of Disseminated Anorectal Mucosal Melanoma
Authors: Chittajallu Vibhu , Simons-Linares Roberto , Oshilaja Olaronke , Chahal Prabhleen
Published: October 2019

INTRODUCTION:

Less than 4% of melanomas are of mucosal origin with primary anorectal mucosal melanomas comprising a small subset. Mucosal melanomas are often diagnosed late due to delay in patient presentation and obscured tumor origins noting a more aggressive behavior and less favorable prognosis when compared to cutaneous melanomas. We present a case of metastatic anorectal mucosal melanoma with a negative colonoscopy 1-year prior.

CASE DESCRIPTION/METHODS:

A 68 year-old female presented to the hospital with a history of several months of intermittent fecal impaction complicated by sporadic outlet type rectal bleeding and a negative colonoscopy 1-year prior. She endorsed progressive anorexia and a 20 lb. weight loss over the last few months. She was hemodynamically stable with normal hemoglobin level. CT imaging depicted multiple lesions in the liver and lungs concerning for metastatic disease. A colonoscopy was repeated and revealed a rigid mass on rectal exam and granular nodularity with ulceration in the rectum at the dentate line on retroflexion (Figure 1). Excisional biopsy confirmed mucosal melanoma. Same session endoscopic ultrasound showed several lesions in the left lobe of the liver with FNA demonstrating malignant melanoma (Figures 2 and 3). MRI revealed primary tumor involvement of the anal canal and rectum in addition to metastases to the liver, lungs, and lymph nodes. The patient was diagnosed with T4N1M1, stage IV anorectal mucosal melanoma (BRAF/C-KIT negative) and was recommended to undergo ipilimumab and nivolumab (I3/N1) immunotherapy with palliative radiation.

DISCUSSION:

Anorectal mucosal melanomas occur infrequently, but at the time of diagnosis, are more likely to be metastatic with poor prognoses. Rectal bleeding is the most common symptom, and diagnosis is often seen in fifth to seventh decade of life. This case is a prime example of not only the aggressive nature of anorectal mucosal melanoma presenting with disseminated disease despite normal colonoscopy 1-year prior but also of the significance of the rectal exam and retroflexion maneuver during colonoscopy.
1569 Duodenocolic Fistula Presenting as Feculent Emesis: An Unfortunate Case of Aggressive Colon Adenocarcinoma in a Young Patient
Authors: Makar Ranjit , Maklad Muthena , Aziz Hamza , Lankarani Daisy S. , Saud Bipin , Jayaraj Mahendran , Wahid Shahid , Ohning Gordon
Published: October 2019

INTRODUCTION:

Duodenocolic fistula is am extremely rare complication of colon adenocarcinoma. Patient typically present with nausea, vomiting and abdominal pain. Rarely patients can present with feculent emesis in which case diagnosis can be confirmed with imaging and endoscopic evaluation. We present an unfortunate case of duodenocolic fistula in a young patient.

CASE DESCRIPTION/METHODS:

34 yo Hispanic male presented to the Emergency room with complains of weight loss, early satiety and vomiting of brownish fluid for the past 3 days. Patient has a previous history of Cecal adenocarcinoma diagnosed at age 32 and underwent right hemicolectomy. Patient was lost to follow up and failed to follow up with oncology. Lately patient had been experiencing early satiety and family members had been complaining of halitosis. He later developed nausea and vomiting of brown color fluid concerning for fecal matter. He denied any abdominal pain and continued to have regular bowel movements. Clinical exam was significant for extreme halitosis although no signs of bowel obstruction. Initial workup was positive for microcytic anemia. CT abdomen revealed 5.1 × 4.8 cm thick walled circumscribed fluid collection contiguous with the descending portion of the duodenum communicating with the adjacent colon near the hepatic flexure (Figure 1). Upper Endoscopic examination revealed a large ulcerated fistulous connection between the duodenal bulb and the colon along with large amount of fecal matter pouring into the stomach through the fistulous connection (Figures 2 and 3). Ulcer edge biopsy confirmed recurrence of colon adenocarcinoma. Patient subsequently underwent whipple's procedure with resection of the previous ileocolic anastomosis and creation of a new ileocolic anastomosis. Testing for DNA mismatch repair gene by immunohistochemistry revealed loss of MSH2 & MSH6 suggestive of microsatellite instability consistent with Lynch Syndrome. Patient and family were subsequently referred for genetic counselling.

DISCUSSION:

Duodenocolic fistula is a rare presentation of colon cancer. There have been only a few case reports of colon cancer presenting as Duodenocolic fistula. Diagnosis requires a high degree of suspicion especially in patients presenting with feculent emesis, which can be confirmed with imaging and endoscopic evaluation. Successful surgical management with fistulectomy along with Whipple's procedure has shown good outcomes.
1571 A Case of CMV Colitis Seen in DRESS
Authors: Malik Anam , Vaze Reema , Buckshaw Ricky , Nellis Eric , Shah Hiral
Published: October 2019

INTRODUCTION:

Cytomegalovirus (CMV) is a member of the family of herpes virus, which persists for life after a primary infection. It is known to cause colitis in both immunocompromised and immunocompetent hosts. This virus is prevalent in about 50%-80% of the general adult population. CMV enters a latency phase after initial infection. Reactivation can occur anywhere along the gastrointestinal tract. The colonic mucosa is the most common site of reactivation. Clinical, endoscopic, and histological appearance of CMV colitis can mimic inflammatory bowel disease. Given this circumstance is it important to avoid misdiagnosis and mismanagement of CMV colitis given high morbidity associated with it.

CASE DESCRIPTION/METHODS:

A 59-year-old female with rheumatoid arthritis on chronic steroids and recently prescribed leflunomide presented with a diffuse rash, stomatitis, eosinophilic dominant leukocytosis, and severe diarrhea. A skin biopsy confirmed the diagnosis of drug reaction with eosinophilia and systemic symptoms (DRESS). The patient's diarrhea worsened despite negative comprehensive stool panel, clostridium difficile toxin and stool ova/parasites. A CT abdomen revealed diffuse colitis, and as a result the patient underwent flexible sigmoidoscopy showing circumferential colitis with ulcerations (Figure 1). Biopsies taken from the distal colon confirmed Cytomegalovirus (CMV) by viral inclusion bodies seen on hematoxylin-eosin staining (Figure 2). The patient was initiated on IV ganciclovir, however expired after developing septic shock.

DISCUSSION:

Gastrointestinal (GI) disease caused by CMV is diagnosed on the presence of clinical symptoms, viral inclusion bodies on biopsy, and endoscopically visualized ulcers. The most common sites of CMV related GI involvement is the esophagus and colon. Biopsy with immunohistochemical testing using monoclonal antibodies against CMV is considered the gold standard (Figure 3). Owl's eye inclusion bodies on staining are highly specific for infection with CMV. The gastrointestinal tract is thought to contain latent CMV after a primary infection This case highlights the importance of recognizing the risks of long term medical treatment with immunomodulatory drugs such as leflunomide or corticosteroids, including local reactivation of a latent virus as in our patient.