• PEBAT, an intriguing neurodegenerative tubulinopathy caused by a novel homozygous variant in TBCD; A case series and literature review

    4 days ago - By Pediatric Neurology

    Progressive Encephalopathy with Brain Atrophy and Thin corpus callosum is a severe and rare progressive neurodegenerative disease. This condition has been described in individuals with pathogenic variants affecting tubulin-specific chaperone protein D which is responsible for proper folding and assembly of tubulin subunits. Here we describe two unrelated infants from Central America presenting with worsening neuromuscular weakness, respiratory failure, polyneuropathy, and neuroimaging findings of severe cerebral volume loss with thin corpus callosum.
    Read more ...