Mitochondrial neurogastrointestinal encephalomyopathy treated with stem cell transplantation: a case report and review of literature

Mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase [TP], which in turn increases thymidine and deoxyuridine in the blood, serum, and tissue. The toxic levels of these products cause malfunction of the mitochondrial respiratory chain and mitochondrial DNA. Commonly, patients become symptomatic between 15 and 20 years of age [range 5 months to 35 years]. The most commonly affected systems are gastrointestinal, followed by ocular, and nervous system. The disease is often fatal; high mortality rate is reported between 20 and 40 years of age. Treatment modalities that can increase thymidine phosphorylase activity and decrease thymidine and deoxy-uridine have shown symptomatic improvements in patients with MNGIE. Platelet transfusion, hemodialysis, peritoneal dialysis or allogeneic hematopoietic stem cell transplantation [HSCT] have been tried. The survival and long-term benefits of these measures are still not clear. Engrafted patients after stem cell transplantation have showed improvements in serum thymidine and deoxyuridine. We are reporting a case of MNGIE from Saudi Arabia, who underwent allogeneic hematopoietic stem cell transplantation. No MNGIE case has been previously reported from Saudi Arabia or the Gulf Arab countries. From the available literature, so far only 11 patients with MNGIE have undergone stem cell transplantation

Inflammatory bowel disease in Saudi Arabia: a hospital-based clinical study of 312 patients

The epidemiology, clinical characteristics, and natural course of inflammatory bowel disease [IBD] in Saudi Arabia are still largely unknown. Hence, we decided to conduct a large retrospective, cohort study to determine these features of the disease. Retrospective study conducted in a tertiary care hospital in Riyadh from January 1970 to December 2008. We reviewed all the cases of IBD diagnosed and collected all data pertaining to patients with IBD. A total of 312 patients with IBD were included for this analysis, including 197 [63%] patients with Crohn disease [CD] and 115 [37%] patients with ulcerative colitis [UC]. The mean age [standard deviation] of patients with IBD was 25.5 [10.6] years; 152 [48.7%] were males and 160 females. The referral rate in the past 10 years was 72.1% compared with preceding 20 years, and 56% [n=178] of patients with IBD were from the central region of Saudi Arabia. The patients were followed up for a mean duration of 9.5 years; during their follow-up, 206 patients [66%] required hospital admission and 9 patients [2.9%] with UC developed colon cancer. A total of 6 patients died during the follow-up. Fifty-three percent [n=104] of the patients with CD underwent surgeries as part of their treatment, whereas only 20% [n=23] of the patients with UC underwent colectomy. The incidence of IBD has been gradually increasing in Saudi Arabia over the years. Clinical features and morbidity in patients are not different from patients with IBD seen in the West