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COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage
Author(s) -
de Vries Linda S.,
Koopman Corine,
Groenendaal Floris,
Van Schooneveld Mary,
Verheijen Frans W.,
Verbeek Elly,
Witkamp Theo D.,
van der Worp H. Bart,
Mancini Grazia
Publication year - 2009
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21525
Subject(s) - porencephaly , intracerebral hemorrhage , medicine , asymptomatic , pediatrics , magnetic resonance imaging , mutation , pathology , radiology , surgery , gene , genetics , biology , glasgow coma scale
Objective To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. Methods Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the brain. Mutation analysis of the COL4A1 gene was performed in the infants and in their mother. Results Both infants had a novel G1580R mutation in the COL4A1 gene, encoding procollagen type IV α1. A history of mild antenatal trauma was present in the first but not in the second infant. Both preterm infants were asymptomatic at birth. The intracerebral hemorrhage and porencephaly were diagnosed with cranial ultrasound examination and were subsequently confirmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father. Interpretation Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn. Ann Neurol 2009;65:12–18