Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Background: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern.

Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases.

The aim of this study was to describe the phenotype of Leber hereditary optic neuropathy occurring in pediatric females. This disease generally affects young adult males, but it can occur also in females, and research data in this population is lacking. The very early onset can challenge the diagnosis and delay treatment.

Clinically Mild Encephalopathy with a Reversible Splenial Lesion Caused by Influenza B Virus in an Unvaccinated Child.

Reversible lesions involved in the splenium of corpus callosum (RESLES) are a rare clinic-radiological condition, whose pathogenesis could be related to infectious events (such as in mild encephalopathy with reversible splenial lesion-MERS), epilepsy or metabolic/electrolyte disorders. MERS is characterized by an acute mild encephalopathy associated with lesions in the splenium of corpus callosum on brain magnetic resonance imaging. Viral infections are commonly associated with this condition and type A influenza is the most common cause.