Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI

Abstract

Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antenatal hemorrhages have been suggested by early post-natal imaging. We describe 2 children with fetal intracerebral hemorrhages and a COL4A1 mutation. There was also extensive hemispheric tissue loss in both infants and loss of cerebellar tissue in one infant. This paper show prenatal evidence of fetal hemorrhage in association with a COL4A1 mutation.

fetal intracerebral hemorrhage - porencephaly - COL4A1

References

• 1 Bilguvar K, DiLuna ML, Bizzarro MJ. et al . COL4A1 mutation in preterm intraventricular hemorrhage.  J Pediatr. 2009;  155 743-745
• 2 De Vries LS, Koopman C, Groenendaal F. et al . COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.  Ann Neurol. 2009;  65 12-18
• 3 Gould DB, Phalan FC, Breedveld GJ. et al . Mutations in Col4A1 cause perinatal cerebral hemorrhage and porencephaly.  Science. 2005;  308 1167-1171
• 4 Plaisier E, Gribouval O, Alamowitch S. et al . COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.  N Engl J Med. 2007;  357 2687-2695
• 5 Shah S, Kumar Y, McLean B. et al . A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.  Eur J Paediatr Neurol. 2009;  14 182-187
• 6 Vahedi K, Kubis N, Boukobza M. et al . COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.  Stroke. 2007;  38 1461-1464
• 7 Van der Knaap MS, Smit LME, Barkhof F. et al . Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.  Ann Neurol. 2006;  59 504-511
• 8 Meuwissen ME, de Vries LS, Verbeek HA. et al . Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.  Neurology. 2011;  76 844-846

Notice:

This article was changed according to the following erratum on: 15.07.2011

Some of the authors' names of this article were incorrect. The names of the authors should be as follows: Vermeulen, R. J.; Peeters-Scholte, C.; Van Vugt, J. J. M. G.; Barkhof, F.; Rizzu, P.; van der Schoor, S. R. D.; van der Knaap, M. S.:

Correspondence