Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Diseases / diagnosis
  • Cerebellar Diseases / diagnostic imaging
  • Cerebellar Diseases / genetics
  • Cerebellum / abnormalities
  • Cerebellum / diagnostic imaging
  • Cerebral Hemorrhage / diagnostic imaging
  • Cerebral Hemorrhage / genetics
  • Child, Preschool
  • Collagen Type IV / genetics*
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Humans
  • Hydranencephaly / diagnosis
  • Hydranencephaly / diagnostic imaging
  • Hydranencephaly / genetics*
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Porencephaly
  • Ultrasonography, Prenatal

Substances

  • COL4A1 protein, human
  • Collagen Type IV

Supplementary concepts

  • Porencephaly cerebellar hypoplasia malformations