Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant

Heerali Patel; Mohammed Elkhwad; Gregory C. Martin

doi:10.12659/AJCR.938651

09 May 2023 : Case report USA

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant

Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology

Heerali Patel^1ABDEF, Mohammed Elkhwad^1ABCDE*, Gregory C. Martin^1BCDE

DOI: 10.12659/AJCR.938651

Am J Case Rep 2023; 24:e938651

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Figure 1. Postnatal magnetic resonance imaging of brain without contrast: sagittal view demonstrating intracranial abnormalities within the periventricular parenchyma, including diffusion restriction hemorrhage and possible calcification (white arrow), in the setting of multifocal infarcts of unknown etiology. Dysgenesis of the corpus callosum and inferior vermian hypoplasia are also apparent (red arrow).

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Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant

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