Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Two proα1 (IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2
(IV) chain encoded by COL4A2 and are the major component of the basement membrane in …

Pediatric chest MRI is challenging. High-resolution scans of the lungs and airways are
compromised by long imaging times, low lung proton density and motion. Low signal is a …

For effective clinical management of cystic fibrosis (CF) lung disease it is important to closely
monitor the start and progression of lung damage. The aim of this study was to investigate …

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles,
cerebral calcification, and, occasionally, by systemic features at birth resembling the …

Context Neurofibromatosis type 1 (NF1) is among the most common genetic disorders that
cause learning disabilities. Recently, it was shown that statin-mediated inhibition of 3 …

OBJECTIVE “Cerebellar mutis” and subsequent dysarthria (MSD) is a documented
complication of posterior fossa surgery in children. In this prospective study the following risk …

PURPOSE: To retrospectively compare thin-section computed tomographic (CT) scores
obtained with five scoring systems for assessment of pulmonary disease in children with …

Objective. We report serial magnetic resonance (MR) and sonographic behavior of globus
pallidus in 5 preterm and 3 term infants with kernicterus and describe the clinical context in …

Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by
genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal …