Intussusception in a premature neonate: a rare often misdiagnosed cause of intestinal obstruction.

Intestinal obstruction in neonatal period is an emergency caused by many surgical causes. An extremely rare surgical cause in this group of age is intussusception which can be easily confused with other surgical entities. In several reports, a significant number of the infants who were included in the study population were believed to have necrotizing enterocolitis (NEC). We present a rare cause of small intestine obstruction in a preterm female infant that can be easily misdiagnosed and confused preoperatively with other clinical entities particular for this period.

Skin biopsy for the diagnosis of Alport syndrome.

Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We describe the case of a 3-year-old boy with the X-linked variant of AS. The diagnosis was at first speculated from the child's detailed family history and was finally confirmed by a skin biopsy. Skin biopsy is an efficient and less invasive method for the X-linked variant of the AS diagnosis.