Mittelbronn Michel, Beschorner Rudi, Capper David, Haist Markus, Meyermann Richard, Meyer-Wittkopf Matthias
Institute of Brain Research, University of Tuebingen, Tuebingen, Germany.
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.
由于全前脑畸形和Chiari II型畸形在发病机制和表型定位上有很大差异，这两种情况同时出现极为罕见。据我们所知，本文所呈现的病例是首篇发表的报告，包含半侧脑叶型全前脑畸形合并Chiari II型畸形以及脊髓脊膜膨出，该病例在产前被诊断出，并经死后神经病理学评估得以证实。这些发现表明，在产前和产后检测到脊髓脊膜膨出和/或Chiari II型畸形的情况下，也应考虑可能存在的其他颅内畸形，如半侧脑叶型全前脑畸形，反之亦然。
