A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

Background: Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.

Case Presentation: After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea.

Acute focal bacterial nephritis in 25 children.

Acute focal bacterial nephritis (AFBN), formerly known as lobar nephronia, is a rare form of interstitial bacterial nephritis. Most often described in adults with diabetes, there is only limited knowledge of AFBN in children. Ultrasound shows circular hypoechogenic, hypoperfused parenchyma lesions, which may be misdiagnosed as a renal abscess or tumor.