Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report.

INTRODUCTION: Diffuse esophageal leiomyomatosis is a rare disease. Misdiagnosis is frequent and previous surgeries can complicate surgical management. The only treatment described for severe symptomatic cases is esophagectomy. PRESENTATION OF CASE: We describe a case of diffuse esophageal leiomyomatosis associated with Alport syndrome in a 21 year-old female where endoscopic ultrasonography (EUS) with concomitant fluoroscopy and 3D-gastric computed tomography (3D-GCT) modified surgical management. DISCUSSION: The diagnosis of diffuse esophageal leiomyomatosis is difficult but can be greatly facilitated by extensive endoscopic and radiologic workup. Esophagectomy should only be entertained after complete anatomic mapping of the lesions, especially after previous surgeries. CONCLUSION: EUS and 3D-GCT should strongly be considered as part of routine preoperative workup in these patients.

Botulinum toxin injection for hypercontractile or spastic esophageal motility disorders: may high-resolution manometry help to select cases?

Endoscopic injections of botulinum toxin in the cardia or distal esophagus have been advocated to treat achalasia and spastic esophageal motility disorders. We conducted a retrospective study to evaluate whether manometric diagnosis using the Chicago classification in high-resolution manometry (HRM) would be predictive of the clinical response. Charts of patients with spastic and hypertensive motility disorders diagnosed with HRM and treated with botulinum toxin were retrospectively reviewed at two centers. HRM recordings were systematically reanalyzed, and a patient's phone survey was conducted. Forty-five patients treated between 2008 and 2013 were included. Most patients had achalasia type 3 (22 cases). Other diagnoses were jackhammer esophagus (8 cases), distal esophageal spasm (7 cases), esophagogastric junction outflow obstruction (5 cases), nutcracker esophagus (1 case), and 2 unclassified cases. Botulinum toxin injections were performed into the cardia only in 9 cases, into the wall of the distal esophagus in 19 cases, and in both locations (cardia and distal esophagus) in 17 cases. No complication occurred in 31 cases. Chest pain was noticed for less than 7 days in 13 cases. One death related to mediastinitis occurred 3 weeks after botulinum toxin injection. Efficacy was assessed in 42 patients: 71% were significantly improved 2 months after botulinum toxin, and 57% remained satisfied for more than 6 months. No clear difference was observed in terms of response according to manometric diagnosis; however, type 3 achalasia previously dilated and with normal integrated relaxation pressure (4s-integrated relaxation pressure < 15 mmHg) had the worst outcome: none of these patients responded to the endoscopic injection of botulinum toxin. Endoscopic injections of botulinum toxin may be effective in some patients with spastic or hypercontractile esophageal motility disorders. The manometric Chicago classification diagnosis does not seem to predict the results. Prospective randomized trials are required to identify patients most likely to benefit from esophageal botulinum toxin treatment.

Prospective multicenter evaluation of colon capsule examination indicated by colonoscopy failure or anesthesia contraindication.

BACKGROUND AND STUDY AIMS: In France, in about 5% of cases colonoscopies are incomplete or temporarily contraindicated.We tested the diagnostic yield of colon capsule endoscopy (CCE) in these patients. PATIENTS AND METHODS: In a prospective study, in 17 French centers, inclusion criteria were colonoscopy failure or general disease that excluded colonoscopy with anesthesia. Patients underwent CCE using the first-generation PillCam Colon capsule. The main end point was CCE diagnostic yield, defined as identification of a colorectal lesion that directly explained symptoms or necessitated a diagnostic or therapeutic examination. A secondary objective was to test a simplified Movi-Prep colon cleansing. Follow-up to identify missed symptomatic cancer was scheduled. RESULTS: CCE showed positive findings in 36 patients (diagnostic yield 33.6 %), among whom 23 subsequently underwent therapeutic intervention. Among 64 patients with negative capsule findings, 9 had a complementary procedure showing adenomas in only 1 case. CCE was incomplete in 7/107 patients. Colonoscopy was done in one patient to retrieve a capsule retained in the left colon, and sigmoidoscopy in 11 because the rectum was not reached. No colorectal cancer was diagnosed during the follow-up period. Colon cleansing with MoviPrep was rated good or excellent in 75.9% of cases. CONCLUSION: This study shows the feasibility and the usefulness of CCE in the situation of colonoscopy failure or contraindication. The colon capsule modality should be tested against other available approaches, such as virtual colonoscopy or repeat colonoscopy by an expert.

Long-term results of liver transplantation for Wilson's disease.

UNLABELLED: Wilson's disease is a hereditary defect in hepatic copper metabolism, causing hepatic, neurological and/or psychiatric manifestations. For patients with severe disease, liver transplantation is the treatment of choice. The aim of this study was to report the long-term outcome of patients who underwent liver transplantation for Wilson's disease. PATIENTS AND METHODS: Thirteen patients with Wilson's disease, transplanted in Lyon France between January 1987 and May 2006, were including in this study: eight women and five men, aged eight to 53 years (median 20 years, seven children and six adults). The diagnosis of Wilson's disease was established before liver transplantation. RESULTS: The indication for liver transplantation was chronic (69%) or fulminant liver failure (31%). The median follow-up after liver transplantation was 10 years with 100% patient survival. Copper metabolism returned to normal in all patients. None of the patients with exclusive liver disease required chelation treatment after liver transplantation and none developed neurological symptoms of Wilson's disease. CONCLUSION: Liver transplantation totally reverses the abnormalities of copper metabolism and subsequent hepatic failure, but the course of neurological symptoms remains unpredictable. Long-term patient survival can be excellent without occurrence of neurological complications.