ABSTRACT
We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina. Patients were raised five as females and two as males. They are all unrelated with the exception of two couples of brothers. The diagnosis of 5-α-reductase-2 deficiency syndrome was first hypothesized on clinical grounds and then confirmed by molecular analysis. Direct sequencing analysis of the SRD5A2 gene revealed in five patients a novel homozygous frame-shift mutation (c.453delC) and in two related patients a previous reported missense mutation. The presence of the same mutation in unrelated patients of the same population suggests a possible founder effect. This report brings the 5-α-reductase-2 deficiency syndrome to the attention of clinical geneticists and child surgeons and discusses the appropriate clinical and surgical strategies for treating these patients.
Subject(s)
Cholestenone 5 alpha-Reductase/deficiency , Disorders of Sex Development/genetics , Mutation , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , Adolescent , Child , Child, Preschool , Cholestenone 5 alpha-Reductase/genetics , Consanguinity , Disorders of Sex Development/diagnosis , Disorders of Sex Development/surgery , Female , Humans , Iraq , Male , Membrane Proteins/genetics , Mutation Rate , Pedigree , PhenotypeABSTRACT
Burkitt's lymphoma (BL) is a high-grade lymphoma which represents 8-10% of all tumors in individuals younger than 15 years old. It may occur as an abdominal tumor, which in rare cases may include gastric mucosa, although in most cases, the tumor is located in the ileum or cecum. Primary gastric lymphoma constitutes as low as 1.48% of all gastric cancers in children. In this study, we described a case of gastric BL in a 4-year-old child, presenting discontinuous abdominal pain, weight loss, constipation and irritability. Despite its rarity in children, this tumor should be treated aggressively and long-term survival has been reported.
ABSTRACT
Littre's hernia was originally defined by Reinke in 1841 as "the presence of a Meckel's diverticulum in any hernial sac." It is generally difficult to differentiate from other types of hernia until complications arise. It is a rare and accidental finding at any age, but it is absolutely exceptional in neonates. To our knowledge, only one case under the age of 1 month has been reported in the literature. Herein two cases treated in the first 20 days of life are reported.
Subject(s)
Hernia, Inguinal/complications , Hernia, Inguinal/surgery , Meckel Diverticulum/complications , Meckel Diverticulum/surgery , Hernia, Inguinal/diagnosis , Humans , MaleABSTRACT
At birth, newborn babies tend to respond to any stressful event with elective blood shunting towards the main organ systems, such as the brain and heart. Consequently, the bowel may suffer from a severe flow reduction with a high risk of hypoperfusion. The distal ileum is relatively less vascularized than other parts of intestine, due to a lack of collateral arteriolar circulation. It is therefore at higher risk of hypoxia, tissue necrosis and perforation in situations of minimal hypoperfusion or spasm. A rare case of covered perforation of the last loop of the ileum in a severely preterm baby is reported. The perforation manifested atypically as inflammatory stenosis of the loop and the ileo-cecal valve. To avoid misdiagnoses and to manage these cases correctly, the caregiver has to consider this rare eventuality in the differential diagnosis of intestinal occlusion/subocclusion in the first days of life.
Subject(s)
Ileocecal Valve , Ileum , Infant, Premature , Intestinal Perforation/complications , Constriction, Pathologic , Equipment Failure , Humans , Ileum/diagnostic imaging , Ileum/pathology , Ileum/surgery , Infant, Newborn , Intestinal Perforation/diagnostic imaging , Intestinal Perforation/pathology , Intestinal Perforation/surgery , RadiographyABSTRACT
Duodenal duplications are rare observations which can be diagnosed during early pregnancy via US scan. In the neonate they are often cause for intestinal occlusions. Surgical treatment can be limited by the duplication's anatomical interrelationships with adjacent organs. Biliary sludge is an uncommon finding in the first year of life, and can readily regress spontaneously. The association between duodenal duplication and sludge has never been described in the literature in the neonatal period. Here, for the first time, we report on the case of a newborn infant with cystic duplication of the duodenum associated with sludge in a misshapen gallbladder.
