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

Figure

  • Figure 1. Bilateral frontal porencephaly on fetal sonography at 21 weeks of gestation (white arrows).

  • Figure 2. Right cataract of the patient.

  • Figure 3. Images of a microcephalic newborn boy with collagen type IV alpha 1 (COL4A1) mutation. (A) Cranial ultrasonography revealed dysmorphic enlarged lateral ventricles. (B) Axial T2-weighted imaging of the brain revealed bilateral dilated lateral ventricles communicating with extensive frontal porencephaly. Marked thinning of the cortical mantle was noted in the bilateral frontal region. T2 dark signal intensity suggesting hemosiderin deposition was observed along the linings of the lateral ventricles. (C) Axial susceptibility weighted imaging revealed multiple foci of susceptibility in the cerebellum suggesting microhemorrhages.

  • Figure 4. Sequence chromatograms revealed that a single heterozygous nucleotide change, c.2645G>T (p.Gly882Val), was present (A) in the patient, but not in his (B) father or (C) mother.


Reference

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