MEZZANO P.

The Authors describe a interesting case of congenital lobar emphysema in a newborn with low-birth weight, asphixya and respiratory distress. The diagnosis was made on the basis of symptoms at onset and early and late radiographic examinations. Mechanical ventilation through selective intubation, allows to resolve the acute respiratory distress,...

Background: Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and pontocerebellar hypoplasia 4 (PCH4). Objective: We report molecular genetic findings in 12 Italian patients with clinical and MRI findings compatible with PCH2 and PCH4....