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.