Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders - 01/09/23

Doi : 10.1016/j.pediatrneurol.2023.07.008

Elizabeth George, MBBS ^a,^⁎ , Rachel Vassar, MD ^b, Andrew Mogga ^c, Yi Li, MD ^a, Mary E. Norton, MD ^d, Dawn Gano, MD ^e,^{^{1
Co-senior authors.}}, Orit A. Glenn, MD ^a,^{^{1
Co-senior authors.}}
^a Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California
^b Department of Neurology, University of California San Francisco, San Francisco, California
^c Albany Medical College, Albany, New York
^d Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, California
^e Departments of Neurology & Pediatrics, University of California San Francisco, San Francisco, California

^∗Communications should be addressed to: Dr. George; Department of Radiology and Biomedical Imaging, University of California San Francisco, 505 Parnassus Avenue, San Francisco, CA 94122.Department of Radiology and Biomedical ImagingUniversity of California San Francisco505 Parnassus AvenueSan FranciscoCA94122

Abstract

Background

COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized.

Methods

This is a retrospective case series of fetal MRI findings in eight patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants, five of whom have postnatal imaging and clinical follow-up.

Results

IPH was multifocal and bilateral in four of eight patients. IPH involved the frontal lobes in all cases and basal ganglia in six of eight. The median maximum diameter of IPH was 16 mm (range 6 to 65 mm). All patients had ventriculomegaly, and four of eight had intraventricular hemorrhage. Prenatal IPH size correlated clinically with motor outcomes, and none had clinically symptomatic recurrent hemorrhage.

Conclusion

COL4A1/A2 variants can present with a spectrum of IPH prenatally, including small and/or unifocal IPH, as well as multifocal and bilateral IPH, involving the frontal lobes and basal ganglia. Given the wide spectrum of IPH severity seen on fetal brain MRI, genetic testing for COL4A1/A2 variants should be considered in all cases of fetal IPH.

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Keywords : Fetal MRI, Intracranial hemorrhage, COL4A1/2, Vasculopathy, Genetic

Plan

Introduction

Materials and Methods

Elizabeth George was supported by ASNR Scholar Award 2020.

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Vol 147

P. 63-67 - octobre 2023 Retour au numéro

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Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders - 01/09/23

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