GI manifestations of stiff-person syndrome
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Her prior evaluation was negative and included a hepatobiliary scan, abdominal ultrasound, CT scan of abdomen and pelvis, enteroscopy and exploratory laparoscopy 2 years prior. Evaluation at our institution in- cluded barium studies (small bowel and enema) that revealed dilation of bowel and prolonged transit time. Physical examination showed an ema- ciated lady weighing about 80lb. with a distended, tympanitic, non-tender abdomen with decreased bowel sounds. Routine laboratory evaluation was non-contributory. Abnormal serological tests included pancreatic polypep- tide (PP) 1846 pg/ml (range 51–326), Gastrin 199 pg/ml (42), Anti- trypsin 251mg/dl (83–199), 5HIIAA in 24 hr urine 11.2 mg/24 hrs (0.5– 9.0), Serotonin B 439 ng/ml (46 –319), VIP 35 pg/ml (70), leucine aminopeptidase 5.0 u/l (1.0 – 3.3), parathormone 154 pg/ml (50 –326), aldolase 8.0 u/l (0 – 8.1), somatostatin 40 pg/ml (39), chromogranin A 25.0 mg/ml (1.6 –5.6), tryptase 13 ug/l (0 –13.5). Prokinetic therapies had no significant response. A venting PEG was placed for relief of discomfort and persistent nausea. The PEG tube outputs were consistently high in the range of 3–5 liters per day of acidic fluid of pH 2. An octreotide scan was negative. An angiogram revealed 2 small liver lesions. Exploratory lapa- rotomy revealed nearly obstructing ileal carcinoid with metastases to the liver and mesenteric lymph nodes. Special stains on the carcinoid tissue reveal marked positivity for Bombesin. She gained 25lb post-surgery, with normal bowel movements. DISCUSSION: High gastrostomy tube output, dilated large and small bowel in the absence of obstruction initially; absence of esophagitis in the presence of hypersecretion and hiatal hernia all point to exaggerated physiological role of GRP. Although PP was elevated no syndrome had been consistently associated with elevated PP levels. CONCLUSION: This is the first report of pseudoobstruction that resolved after the removal of an ileal carcinoid tumor that stained strongly for bombesin. The etiological agent for this clinical presentation is presumed to be bombesin. 680 GI manifestations of stiff-person syndrome Jae Kim, Michael Camilleri* and Kathleen M McEvoy. 1 Enteric Neuroscience Program, Gastroenterology Research Unit, Mayo Clinic, Rochester, Minnesota, United States; and 2 Neurology, Mayo Clinic, Rochester, Minnesota, United States. Purpose: Stiff-person syndrome (SPS) is a rare neurological condition characterized by slowly progressive muscle stiffness with superimposed spasms involving the axial and proximal limb muscles. Delayed gastric emptying and dysphagia have been described in rare case reports of SPS. We describe abnormal gastric accommodation as a cause for chronic nausea and vomiting in a patient with SPS. Case We present a 14 year old female with autoimmune SPS associated with chronic nausea, vomiting, and early satiety. She had been hospitalized on multiple occasions for management of dehydration and malnutrition and ultimately required placement of a percutaneous gastrostomy tube and a liquid diet. Her vomiting improved significantly with domperidone therapy, but the postprandial nausea persisted. Scintigraphic gastric emptying and intestinal transit studies of liquids were normal. Assessment of gastric accommodation after a 300 ml nutrient drink using SPECT imaging dem- onstrated a reduced postprandial to fasting volume ratio of 1.48 (normal 3 to 8). Cardiac, abdominal, and peripheral autonomic reflex testing was normal suggesting that failure of gastric accommodation was not due to vagal dysfunction. Therefore, the abnormal gastric accommodation in this patient with SPS was considered to be secondary to a stiff stomach. Patient improved dramatically after receiving plasmapheresis therapy, and we plan to repeat the physiologic studies in the near future. Discussion The pathological basis of gastrointestinal tract involvement in SPS has not been well characterized. SPS primarily affects the striated muscle, but may involve both striated and smooth muscle in the gastroin- testinal tract. We will discuss the pathophysiology and potential treatment of the gastrointestinal manifestations related to this rare neurological con- dition. 681 Primary small cell carcinoma of the anal canal: a case report Madhu S Kollipara, M.D. 1 , Howard Semins, M.D. 1 , Devora E Hathaway, BSN 1 , Daniel J Gagne, M.D. 1 and Philip F Caushaj, M.D., FACG 1 *. 1 Department of Surgery, Temple University School of Medicine Clinical Campus, The Western Pennsylvania Hospital, Pittsburgh, Pennsylvania, United States. Purpose: Carcinoma of the anal canal predominantly occurs as adenocar- cinoma or squamous cell carcinoma. Primary small cell carcinoma of the anal canal is a very rare neoplasm and is characterized by an aggressive clinical course with poor prognosis. Very little has been written regarding this histologic variant of anal cancer. A search of the English-language literature using MEDLINE showed no case reports and a mention of 13 cases in a 188-case serial study of anal canal carcinoma. Methods: This case report describes an 84 year-old male who presented to The Western Pennsylvania Hospital from a nursing home complaining of nausea, vomiting, abdominal pain, rectal pain and bleeding and a sensation of an anal mass. Colonoscopy revealed an anal tumor, which was biopsied. In the course of further workup, a CT Scan of the abdomen revealed a mass in the rectum with evidence of perirectal spread. Pathologic and immuno- histochemical study of the biopsy specimen revealed an undifferentiated small cell carcinoma. Results: A diverting loop colostomy was performed and a jugular venous port inserted in anticipation of chemotherapy. The patient received one dose of Carboplatin and Taxol and was subsequently sent home to return for further chemotherapy and radiation. Conclusions: The case illustrates the typical presentation and rapid pro- gression of small cell carcinoma of the anal canal. As in other histologic types of anal carcinoma, chemoradiation has become the mainstay of therapy. Although studies have shown that histologic type has no signifi- cant impact in the treatment or outcome, the small cell variant of anal carcinoma is especially virulent and therefore should be treated as a systemic disease when diagnosed. 682 Fatal mycotic endocarditis from a primary esophageal aspergilloma Srinadh Komanduri 1 , Syed Zaidi 1 , Keith Bruninga 1 and Ali Keshavarzian 1 *. 1 Digestive Diseases, Rush-Presbyterian St. Luke’s, Chicago, IL, United States. Purpose: Aspergillus primarily infects patients with pre-existing pulmo- nary disease and individuals with impaired immunity. This fastidious mold has predilection for the sinuses and lungs and can result in significant morbidity and mortality without expedient diagnosis and treatment. Gas- trointestinal aspergillosis is extremely rare even in the immunocompro- mised host. Review of the literature reveals few case reports ranging from Aspergillus esophagitis to invasion of the mediastinum with development of tracheal esophageal fistulae. In all reports, esophageal involvement was predated by severe pulmonary infection. We present a unique case of a primary esophageal aspergilloma. Case: An 18-year-old female was admitted with neutropenic fever and intermittent dysphagia to solids after initial consolidation chemotherapy (Mitoxantrone, Cytaribine, and Amifostine) for acute myelogenous leuke- mia. Physical examination was significant only for a temperature of 104 degrees Fahrenheit. Laboratory tests revealed an absolute neutrophil count of 100. Empiric broad-spectrum antibiotics and Fluconazole were started. The patient’s dysphagia worsened as febrile neutropenia persisted. Further investigation including chest X-ray, urine culture, and blood cultures (in- cluding fungal) were consistently negative. Upper endoscopy showed an 8 cm. friable, ulcerated mass in the mid-esophagus. Mucosal pinch biopsies subsequently demonstrated Aspergillus species. Chest CT confirmed an intraluminal esophageal mass with evidence of submucosal air. Over the next 24 hours the patient experienced generalized seizures, hypotension, and expired from cardiac arrest. Autopsy revealed fistulous communication between the mass and the right atrium. Furthermore, there was evidence of S214 Abstracts AJG – Vol. 96, No. 9, Suppl., 2001
Transcript of GI manifestations of stiff-person syndrome
Her prior evaluation was negative and included a hepatobiliary scan,abdominal ultrasound, CT scan of abdomen and pelvis, enteroscopy andexploratory laparoscopy 2 years prior. Evaluation at our institution in-cluded barium studies (small bowel and enema) that revealed dilation ofbowel and prolonged transit time. Physical examination showed an ema-ciated lady weighing about 80lb. with a distended, tympanitic, non-tenderabdomen with decreased bowel sounds. Routine laboratory evaluation wasnon-contributory. Abnormal serological tests included pancreatic polypep-tide (PP) 1846 pg/ml (range 51–326), Gastrin 199 pg/ml (�42), Anti-trypsin 251mg/dl (83–199), 5HIIAA in 24 hr urine 11.2 mg/24 hrs (0.5–9.0), Serotonin B 439 ng/ml (46–319), VIP �35 pg/ml (�70), leucineaminopeptidase 5.0 u/l (1.0– 3.3), parathormone 154 pg/ml (50–326),aldolase 8.0 u/l (0–8.1), somatostatin 40 pg/ml (�39), chromogranin A25.0 mg/ml (1.6–5.6), tryptase 13 ug/l (0–13.5). Prokinetic therapies hadno significant response. A venting PEG was placed for relief of discomfortand persistent nausea. The PEG tube outputs were consistently high in therange of 3–5 liters per day of acidic fluid of pH 2. An octreotide scan wasnegative. An angiogram revealed 2 small liver lesions. Exploratory lapa-rotomy revealed nearly obstructing ileal carcinoid with metastases to theliver and mesenteric lymph nodes. Special stains on the carcinoid tissuereveal marked positivity for Bombesin. She gained 25lb post-surgery, withnormal bowel movements.DISCUSSION: High gastrostomy tube output, dilated large and smallbowel in the absence of obstruction initially; absence of esophagitis in thepresence of hypersecretion and hiatal hernia all point to exaggeratedphysiological role of GRP. Although PP was elevated no syndrome hadbeen consistently associated with elevated PP levels.CONCLUSION: This is the first report of pseudoobstruction that resolvedafter the removal of an ileal carcinoid tumor that stained strongly forbombesin. The etiological agent for this clinical presentation is presumedto be bombesin.
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GI manifestations of stiff-person syndromeJae Kim, Michael Camilleri* and Kathleen M McEvoy. 1EntericNeuroscience Program, Gastroenterology Research Unit, Mayo Clinic,Rochester, Minnesota, United States; and 2Neurology, Mayo Clinic,Rochester, Minnesota, United States.
Purpose: Stiff-person syndrome (SPS) is a rare neurological conditioncharacterized by slowly progressive muscle stiffness with superimposedspasms involving the axial and proximal limb muscles. Delayed gastricemptying and dysphagia have been described in rare case reports of SPS.We describe abnormal gastric accommodation as a cause for chronicnausea and vomiting in a patient with SPS.Case We present a 14 year old female with autoimmune SPS associatedwith chronic nausea, vomiting, and early satiety. She had been hospitalizedon multiple occasions for management of dehydration and malnutrition andultimately required placement of a percutaneous gastrostomy tube and aliquid diet. Her vomiting improved significantly with domperidone therapy,but the postprandial nausea persisted. Scintigraphic gastric emptying andintestinal transit studies of liquids were normal. Assessment of gastricaccommodation after a 300 ml nutrient drink using SPECT imaging dem-onstrated a reduced postprandial to fasting volume ratio of 1.48 (normal 3to 8). Cardiac, abdominal, and peripheral autonomic reflex testing wasnormal suggesting that failure of gastric accommodation was not due tovagal dysfunction. Therefore, the abnormal gastric accommodation in thispatient with SPS was considered to be secondary to a stiff stomach. Patientimproved dramatically after receiving plasmapheresis therapy, and we planto repeat the physiologic studies in the near future.Discussion The pathological basis of gastrointestinal tract involvement inSPS has not been well characterized. SPS primarily affects the striatedmuscle, but may involve both striated and smooth muscle in the gastroin-testinal tract. We will discuss the pathophysiology and potential treatmentof the gastrointestinal manifestations related to this rare neurological con-dition.
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Primary small cell carcinoma of the anal canal: a case reportMadhu S Kollipara, M.D.1, Howard Semins, M.D.1, Devora EHathaway, BSN1, Daniel J Gagne, M.D.1 and Philip F Caushaj, M.D.,FACG1*. 1Department of Surgery, Temple University School ofMedicine Clinical Campus, The Western Pennsylvania Hospital,Pittsburgh, Pennsylvania, United States.
Purpose: Carcinoma of the anal canal predominantly occurs as adenocar-cinoma or squamous cell carcinoma. Primary small cell carcinoma of theanal canal is a very rare neoplasm and is characterized by an aggressiveclinical course with poor prognosis. Very little has been written regardingthis histologic variant of anal cancer. A search of the English-languageliterature using MEDLINE showed no case reports and a mention of 13cases in a 188-case serial study of anal canal carcinoma.Methods: This case report describes an 84 year-old male who presented toThe Western Pennsylvania Hospital from a nursing home complaining ofnausea, vomiting, abdominal pain, rectal pain and bleeding and a sensationof an anal mass. Colonoscopy revealed an anal tumor, which was biopsied.In the course of further workup, a CT Scan of the abdomen revealed a massin the rectum with evidence of perirectal spread. Pathologic and immuno-histochemical study of the biopsy specimen revealed an undifferentiatedsmall cell carcinoma.Results: A diverting loop colostomy was performed and a jugular venousport inserted in anticipation of chemotherapy. The patient received onedose of Carboplatin and Taxol and was subsequently sent home to returnfor further chemotherapy and radiation.Conclusions: The case illustrates the typical presentation and rapid pro-gression of small cell carcinoma of the anal canal. As in other histologictypes of anal carcinoma, chemoradiation has become the mainstay oftherapy. Although studies have shown that histologic type has no signifi-cant impact in the treatment or outcome, the small cell variant of analcarcinoma is especially virulent and therefore should be treated as asystemic disease when diagnosed.
682
Fatal mycotic endocarditis from a primary esophageal aspergillomaSrinadh Komanduri1, Syed Zaidi1, Keith Bruninga1 and AliKeshavarzian1*. 1Digestive Diseases, Rush-Presbyterian St. Luke’s,Chicago, IL, United States.
Purpose: Aspergillus primarily infects patients with pre-existing pulmo-nary disease and individuals with impaired immunity. This fastidious moldhas predilection for the sinuses and lungs and can result in significantmorbidity and mortality without expedient diagnosis and treatment. Gas-trointestinal aspergillosis is extremely rare even in the immunocompro-mised host. Review of the literature reveals few case reports ranging fromAspergillus esophagitis to invasion of the mediastinum with developmentof tracheal esophageal fistulae. In all reports, esophageal involvement waspredated by severe pulmonary infection. We present a unique case of aprimary esophageal aspergilloma.Case: An 18-year-old female was admitted with neutropenic fever andintermittent dysphagia to solids after initial consolidation chemotherapy(Mitoxantrone, Cytaribine, and Amifostine) for acute myelogenous leuke-mia. Physical examination was significant only for a temperature of 104degrees Fahrenheit. Laboratory tests revealed an absolute neutrophil countof 100. Empiric broad-spectrum antibiotics and Fluconazole were started.The patient’s dysphagia worsened as febrile neutropenia persisted. Furtherinvestigation including chest X-ray, urine culture, and blood cultures (in-cluding fungal) were consistently negative. Upper endoscopy showed an 8cm. friable, ulcerated mass in the mid-esophagus. Mucosal pinch biopsiessubsequently demonstrated Aspergillus species. Chest CT confirmed anintraluminal esophageal mass with evidence of submucosal air. Over thenext 24 hours the patient experienced generalized seizures, hypotension,and expired from cardiac arrest. Autopsy revealed fistulous communicationbetween the mass and the right atrium. Furthermore, there was evidence of
S214 Abstracts AJG – Vol. 96, No. 9, Suppl., 2001
