Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) targets multiple
organs and causes severe coagulopathy. Histopathological organ changes might not only …

Vanishing white matter (VWM) is one of the most prevalent inherited childhood
leukoencephalopathies, but this may affect people ofall ages, including neonates and adults. It is a …

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
has recently been defined based on a highly characteristic constellation of …

Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes
encoding subunits of eukaryotic translation initiation factor 2B (eIF2B). Disease onset and …

Vanishing white matter (VWM) disease is a genetic leukoencephalopathy linked to mutations
in the eukaryotic translation initiation factor 2B. It is a disease of infants, children, and …

Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from prenatal …

Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder
consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive …

The blood–brain barrier (BBB) is crucial in the maintenance of a controlled environment within
the brain to safeguard optimal neuronal function. The endothelial cells (ECs) of the BBB …

Objective: To study the clinical and radiologic spectrum and genotype–phenotype correlation
of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy …

We investigated two unrelated children with an isolated defect of mitochondrial complex III
activity. The clinical picture was characterized by a progressive encephalopathy featuring …