Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings

J Child Neurol. 2006 May;21(5):426-9. doi: 10.1177/08830738060210051501.


As holoprosencephaly and Chiari II malformation differ considerably, both in pathogenesis and in phenotypic localization, the coincidence of both entities is extremely rare. The case presented is, to our knowledge, the first published report comprising a combination of a semilobar holoprosencephaly associated with a Chiari II malformation and a myelomeningocele diagnosed prenatally and confirmed by postmortem neuropathologic evaluation. These findings indicate that in the case of pre- and postnatal detection of a myelomeningocele and/or Chiari II malformation, possible additional intracranial malformation, such as a semilobar holoprosencephaly, should also be taken into account and vice versa.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arnold-Chiari Malformation / complications
  • Arnold-Chiari Malformation / diagnostic imaging*
  • Arnold-Chiari Malformation / pathology*
  • Female
  • Holoprosencephaly / complications
  • Holoprosencephaly / diagnostic imaging*
  • Holoprosencephaly / pathology*
  • Humans
  • Meningomyelocele / complications
  • Meningomyelocele / diagnostic imaging
  • Meningomyelocele / pathology
  • Pregnancy
  • Ultrasonography, Prenatal*