Congenital azygos pseudocontinuity with right lower intercostal vein

We report the case of a neonate born at 384/7 weeks of gestation with median birth weight and size and in the 75th percentile for head circumference. Routine pregnancy follow up allowed the antenatal discovery of azygos continuation with absence of the inferior vena cava

Malignant transformation of an abdominal inflammatory myofibroblastic tumor with distant metastases in a child

Inflammatory myofibroblastic tumors (IMT) are lesions that mostly affect young adults and children. The tumor is made up of myofibroblasts and a mixed inflammatory infiltrate and rarely undergoes malignant transformation. We present a case of a 13-year-old boy with a pelvic mass diagnosed as IMT which underwent malignant transformation and metastasised to the liver. We report the ultrasound, computed tomography (CT) and magnetic resonance (MR) findings of this rare disorder

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified, This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene, The mutation was nearly homoplasmic and maternally inherited, This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration, It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition

Retroperitoneal teratoma as first sign of klinefelters-syndrome

A 5 month old boy with a retroperitoneal teratoma was found to have a 47 XXY karyotype indicating Klinefelter's syndrome. This observation suggests that patients with the syndrome may be at risk of germinal tumours in sites other than those usually reported (mediastinum, brain, and testes)

A functioning double aortic arch in an infant : a case report

A case of a functioning double aortic arch is presented in a 4-month-old boy with recurrent respiratory infections and poor feeding. An esophagogram, Doppler echocardiography and aortography were performed. We describe the typical findings of this rare disorder

Retroperitoneal teratoma as first sign of Klinefelter's syndrome.

A 5 month old boy with a retroperitoneal teratoma was found to have a 47 XXY karyotype indicating Klinefelter's syndrome. This observation suggests that patients with the syndrome may be at risk of germinal tumours in sites other than those usually reported (mediastinum, brain, and testes)