Management of a small bowel hemangioma causing intussusception in an infant: A rare case report and literature review.

INTRODUCTION: Hemangiomas of the small intestine are rare and usually present in young people. They are very difficult to diagnose preoperatively. We report a rare case of mixed intestinal hemangioma (IH) causing intussusception in a pediatric patient. CASE PRESENTATION: A 3-month-old girl, with no prior medical or surgical history, was admitted with rectal bleeding and paroxysmal crying due to intermittent abdominal pain. An urgent abdominal ultrasound revealed ileo-ileal intussusception. Operative findings confirmed the intussusception, and a segmental resection of the intussuscepted jejunum was performed. Histopathological examination found a mixed hemangioma. The postoperative course was uneventful. DISCUSSION: Clinical presentation may include intestinal bleeding leading to anemia, obstruction, intussusception and perforation. Intussusception caused by small bowel hemangioma is extremely rare. Notably, we didn't find any cases of small bowel hemangioma revealed by intussusception in children. The main treatment for hemangiomas is surgical resection of the affected segment. No evidence in the literature on postoperative recurrence of hemangiomas. CONCLUSION: Intussusception secondary to intestinal hemangiomas is extremely rare. Preoperative diagnosis is challenging as they are often undetectable with traditional techniques. Enhanced awareness and understanding of this condition can facilitate earlier diagnosis and improve management outcomes.

Primary and isolated cutaneous precursor B-lymphoblastic lymphoma in an infant.

Cutaneous lesions may represent the initial sign of various neoplasms in children, including histiocytosis, neuroblastomas, and lymphomas. Primary cutaneous lymphoblastic lymphomas are rare and involve mostly the B-cell phenotype. Herein, we report a case of isolated, primary B-lymphoblastic lymphoma in a 7-month-old infant and emphasize the importance of early diagnosis.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

Hepatic steatosis in chronic hepatitis B: contributing factors and effect on fibrosis.

AIM: To determinate factors that contribute to the steatosis's formation in chronic hepatitis B, to evaluate its influence on the development of hepatic fibrosis and to research an eventual relation to virologic factors in a Tunisian cohort of patients. METHODS: All patients with chronic hepatitis B confirmed by data of liver biopsy were included in this study, which was enrolled from 1990 to 2006. The studied parameters were: age, gender, body mass index, transaminases, cholesterol, triglycerides, glycaemia and DNA rate, status HBe antigen and the degree of activity and histological fibrosis was estimated according to the score of METAVIR. RESULTS: Fifteen patients (34.1%) among the 44 patients includes in this study had hepatic steatosis; that was mild in 10 patients (66.6%), moderate in 3 cases (20%) and severe in 2 patients (13.4%). The antigen HBe was negative in 27 patients (62.22%). The mean age of the patients having a steatosis was of 32.33 years versus 27.75 years for those who had no it (p=0.185). The transaminases rate was superior in patients with steatosis than those without, the difference was not significant. Univariate correlation between predictor variables was studied. Significant predictors to steatosis included body mass index (p=0.011) and cholesterol (p=0.037). HBe Ag status was not associated with steatosis. Neither activity nor fibrosis was correlated with steatosis. CONCLUSION: In Tunisian patients, factors contributing to the formation of steatosis during the chronic hepatitis B were the body mass index and the rate of cholesterol. The steatosis did not seem to have an influence on the development of the hepatic fibrosis and seems to be independent on the viral effect.