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. In this report, we describe a Lebanese Arab family with multigenerational incidence of GD caused by a heterozygous genotype of a rare mutation, R48W, and a common one, L444P. Our patients' clinical course is described. We also review the English literature for patients with this rare 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. RESULTS: Of 15,073 insured individuals, 8 had a diagnosis of CD and 16 of UC, giving an age-adjusted prevalence of 53.1 per 100,000 people for CD and 106.2 per 100,000 people for UC. The mean age at diagnosis for patients with CD and UC was 28.8 +/- 11.1 and 32.0 +/- 13.4 years, respectively, and there was a slight female predominance. The mean annual incidence was 4.1 per 100,000 people for UC and 1.4 per 100,000 people for CD (range, 0-6.9/100,000 for both). Of the 10,383 patients seen in the gastroenterology clinic from 2000 to 2004, 251 (2.4%) had IBD (142 UC, 100 CD, and 9 indeterminate), a ratio that trended upward over time (range, 1.8%-2.7%). The median IBD Quality-of-Life (IBDQ) questionnaire score was 124.9 +/- 30.5, indicating that the disease had a moderately severe impact on QoL. CONCLUSIONS: The prevalence of IBD in this representative Lebanese cohort falls in the intermediate range of that reported for white populations in Europe and North America. Future studies are needed to examine local risk factors, disease genotypes and phenotypes, and epidemiologic time trends. The psychosocial burden of IBD in Lebanon appears significant.

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. SETTING AND PATIENTS: Twenty-two patients with primary gastric MALT lymphoma were identified through a retrospective review of charts of patients seen at the American University of Beirut Medical Center. Only 19 patients with histopathologically confirmed gastric MALT lymphoma and H pylori infection who had EUS staging were included in the study. MAIN OUTCOME MEASUREMENTS: Regression of the gastric MALT lymphoma as determined by follow-up endoscopy and mucosal biopsies. RESULTS: Patients with disease restricted to the gastric mucosa had a significantly higher rate of complete remission after H pylori eradication compared with patients who had disease infiltrating into the gastric submucosa (77.8% vs 12.5%, P value .007). There was no statistical difference in terms of the mean follow-up time to achieve such response (P value .212). Age, sex, location of the tumor within the stomach, and endoscopic appearance did not correlate with the probability of complete remission of the MALT lymphoma. LIMITATIONS: The limitations include a retrospective design and a relatively small sample population. CONCLUSION: EUS determination of the invasion depth of gastric MALT lymphoma helps predict a complete response to H pylori eradication.

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. The presence of a colonic stricture supports the hypothesis that the disease started in the colon rather than in the duodenum, and mandates surgical rather than medical therapy. Our case illustrates the possibility of coloduodenal fistula in patients with long-standing Crohn's disease, which should be considered in patients presenting with fecaloid vomiting, abdominal pain, and weight loss.

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. The patient developed systemic inflammatory response syndrome (SIRS), with negative workup for underlying etiology. He responded well to digital disimpaction and antibiotics. Our case illustrates the serious sequelae of fecal impaction, which should be considered in patients with neurologic disorders and SIRS.