Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.

Gaucher disease (GD) is the most frequently encountered lysosomal storage disease, caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at 1q21. The disease is most common in the Ashkenazi Jewish population. GD can present with a vast phenotypic heterogeneity, which can be predicted to some extent from the underlying mutation.

Clinical epidemiology of inflammatory bowel disease in Lebanon.

Background: The objectives of this study were to determine the prevalence and incidence of inflammatory bowel disease (IBD) in a representative Lebanese cohort and to describe practice prevalence trends, disease characteristics, and impact on quality of life (QoL) of IBD patients in Lebanon.

Methods: All of a university-based health program's 2000-2004 computerized records that listed a diagnosis of Crohn's disease (CD) or ulcerative colitis (UC) were reviewed. In addition, data on patients seen in the gastroenterology clinics and data from the IBD registry at the American University of Beirut Medical Center (AUBMC) from the same period were analyzed.

The value of EUS in predicting the response of gastric mucosa-associated lymphoid tissue lymphoma to Helicobacter pylori eradication.

Background: Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is associated with Helicobacter pylori infection, and regression of the tumor has been described after its eradication.

Objective: To determine the value of EUS, in addition to other clinical/endoscopic features, in predicting the response of low-grade MALT lymphoma to H pylori eradication.

Design: A retrospective, single-center study.

Primary coloduodenal fistula in Crohn's disease.

The posterior surface of the proximal transverse colon and the anterior surface of the descending duodenum are intimately related, predisposing to fistulization in this area. We herein describe a rare case of benign duodenocolic fistula secondary to Crohn's disease. We emphasize the clinical presentation with fecaloid vomiting, as well as the establishment of the diagnosis by endoscopy, which are both extremely rare.

Fecal impaction and systemic inflammatory response syndrome in a young male with cerebral palsy.

Symptoms of fecal impaction extend from constipation, anorexia, nausea, vomiting and abdominal pain, to full blown sepsis. We present the case of a patient with cerebral palsy and mental retardation, who presented to the Emergency Department with a 3-day history of diffuse abdominal pain and fecal incontinence. Evaluation revealed severe fecal impaction.