COL4A1-related disorders: a case report

Case presentation: Young male, 17 years old, born in Rio de Janeiro, with a history of global developmental delay and neuroimaging leukoencephalopathy. Basic screening for inborn errors metabolism, ophthalmoscopy electroneuromyography did not show any changes. Specific enzyme measurements performed during diagnostic investigation excluded leukodystrophies Tay-Sachs as possible etiologies. The presence bilateral basal ganglia hyperdensity, compatible calcifications, associated static clinical condition have pointed to the possibility leukoencephalopathy due congenital cytomegalovirus infection. From age 11, transient recurring events paresis paresthesia were noted, from March 2016 April 2022, consistent stroke, predominantly hemorrhagic etiology. main cardiovascular, hematological, inflammatory rheumatological causes investigated ruled out. At this time, genetic etiologies, such Leukoencephalopathy Calcifications Cysts Small Brain Vessel Disease group, became hypotheses. A gene panel by next generation sequencing was identifying heterozygous, probably pathogenic novo variant COL4A1 c.2432G>T;p.Gly811Val gene, previously reported.