Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF.

Ultrasonographic triangular cord sign and gallbladder abnormality in diagnosis of biliary atresia

Early diagnosis of biliary atresia is very important for better outcome of treatment. Ultrasonography is one of the diagnostic tools for early differentiation of biliary atresia from other causes of neonatal cholestasis. It has been reported that triangular cord sign [TACS] in sonography is a reliable sign for diagnosis of biliary atresia. The aim of this study was to re-assess the accuracy of TACS alone and coupled with an abnormal gallbladder in the diagnosis of biliary atresia. Infants with prolonged cholestatic jaundice underwent ultrasonography and liver biopsy. Results of ultrasound scans [TASC and gallbladder abnormality] were compared with histopathological findings. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of Ultrasonographic findings for diagnosis of biliary atresia based on liver histopathology were studied. The sensitivity, specificity and accuracy of TACS for diagnosis of biliary atresia were 36%, 95% and 77% respectively. Positive predictive value and negative predictive value was 77%. The sensitivity and specificity of gallbladder abnormality for diagnosis of biliary atresia were 36% and 88% respectively. Positive predictive value of TACS coupled with gallbladder abnormality for diagnosis of biliary atresia was 100%. The Ultrasonographic TACS is very specific for diagnosis of biliary atresia. Positive predictive value and accuracy of this sign is much higher than of gallbladder abnormality. The sensitivity of TACS for diagnosis of biliary atresia is very low

Colorectal polyps: a clinical, endoscopic and pathologic study in Iranian children

To study the clinical presentation, histology and colonoscopic features of lower gastrointestinal polyps in Iranian children. Medical reports of children with colorectal polyps were retrospectively reviewed from 1996 to 2005 at the Children's Medical Center Hospital, Iran. A total of 563 cases were studied. Data related to age, sex, family history, signs and symptoms, the size, location, polyp types and associated lesions were collected and analyzed. The mean age of children was 5.66 +/- 2.88 years [range 2 months to 17 years], with a male-to-female ratio of 1.61:1.0. The highest incidence was between ages 2 and 10 years [85.1%]. Rectal bleeding was the presenting symptom in 78.5% cases. The polyps were solitary in 94% of cases. A majority of polyps [86.3%] were juvenile and 86.7% located in the rectosigmoid area. Three percent of cases had a positive family history. One case of Turcot syndrome was also identified. Juvenile polyps remain the most common polyps in Iranian children. Although the presence of a solitary polyp in the rectosigmoid colon is more prevalent, in a significant number of cases they are multiple and located in proximal parts. Polyps must be removed even when asymptomatic because of their probable neoplastic potential

[ etiology of persistent diarrhea in hospitalized patients at Children's Medical Center in Tehran]

The objective of this study was to determine the causes of persistent diarrhea in hospitalized patients at Children's Medical Center in Tehran. Primarily we determined the 41 different etiologies of persistent diarrhea which were recognizable in Iran at the time of study. then we studied all hospitalized patients with these diagnoses between the years 1992 till 1998. During the period of study there were 1300 patients who had been hospitalized in children's hospital. Among these patients 215 had persistent diarrhea. 10 most common etiologies of persistent diarrhea were celiac disease, cystic fibrosis, ulcerative colitis, malnutrition, immune deficiencies, urinary tract infections, giardiasis, gastroenteritis, cow milk allergy, and intestinal lymphangiectasia. Based on the results of this study, in approaching patients with persistent diarrhea, it is better to consider more common and probable etiologies primarily to avoid unnecessary costs and then perform suitable diagnostic studies

Protein losing enteropathy as a sole manifestation of intestinal non-hodgkin's lymphoma; a case report and review of the literature

Protein losing enteropathy [PLE] as an initial finding of lymphoma, is extremely rare in childhood. We describe clinical and pathological features of an unusual case of gastrointestinal lymphoma presented with PLE as a sole manifestation. Differential diagnosis in children presenting with PLE is critical because early diagnosis and treatment are important for survival in patients with lymphoma

Report of congenital generalized lipodystrophy in children's medical center, Tehram, Iran

Generalized lipodystrophy is a rare disorder in children characterized by absence of subcutaneous adipose tissue. We evaluated 10 patients with generalized lipodystrophy by skin and liver biopsy. Eight patients with steatohepatitis and cirrhosis were treated with Ursobile [uorsodeoxycholic acid] and vitamin E. In follow-up, serum triglyceride level was decreased