Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders

BackgroundCOL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause fetal neonatal intracranial hemorrhage, porencephaly, schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders not well characterized.MethodsThis is retrospective case series MRI eight patients with intraparenchymal hemorrhage (IPH) COL4A1/A2 variants, five whom have postnatal clinical follow-up.ResultsIPH was multifocal bilateral 4/8. IPH involved frontal lobes all cases basal ganglia 6/8. The median maximum diameter 16 mm (range 6-65 mm). All had ventriculomegaly 4/8 intraventricular hemorrhage. Prenatal size correlated clinically motor outcomes, none symptomatic recurrent hemorrhage.ConclusionCOL4A1/A2 can present spectrum prenatally, including small and/or unifocal IPH, involving ganglia. Given wide severity seen on brain MRI, genetic testing for should be considered IPH.