Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made.

A case of congenital lobar emphysema in the middle lobe.

Congenital lobar emphysema (CLE) is a rare cause of respiratory distress during the neonate period. It is characterized by overinflation of pulmonary lobe, most commonly the left upper lobe or the right middle lobe. We report a case of a 21-day-old baby with the severe respiratory distress.

An unusual complication of subcutaneous fat necrosis of the newborn.

Subcutaneous fat necrosis (SCFN) is a well-described cause of subcutaneous calcification occurring in a young infant. Calcification of areas of fat necrosis in the neonate is a rare condition. In this case, the radiographic demonstration of soft-tissue calcification revealed the skin calcification in the absence of clinical signs of SCFN and without hypercalcaemia in the first 48 h of life.