Neonatal Med.  2020 Feb;27(1):16-20. 10.5385/nm.2020.27.1.16.

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 2Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Abstract

Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the basement membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic dysfunctions, including hereditary porencephaly, hemorrhagic stroke, hemiplegia, cerebral small vessel disease, and nephropathy. In this study, we describe a neonatal case featuring a novel de novo COL4A1 mutation, manifesting as fetal intraventricular hemorrhage and porencephaly. This patient is one of the youngest to have been diagnosed with the most severe phenotype. Our experience may assist clinicians in the diagnosis and management of this extremely rare genetic condition.

Keyword

Cerebrovascular disorders; Collagen; Genetics; Hemorrhage; Stroke
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