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Journal of Child Neurology
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Coincidence of Semilobar Holoprosencephaly and Chiari II Malformation: Correlation of Prenatal Diagnostics and Neuropathologic Findings

Michel Mittelbronn, MD

Institute of Brain Research, University of Tuebingen Tuebingen, Germany, michel-guyandr.mittelbronn{at}med.uni-tuebingen.de

Rudi Beschorner, MD

Institute of Brain Research, University of Tuebingen Tuebingen, Germany

David Capper, MD

Institute of Brain Research, University of Tuebingen, Tuebingen, Germany

Markus Haist, MD

Department of Obstetrics and Gynecology, University of Tuebingen, Tuebingen, Germany

Richard Meyermann, MD

Institute of Brain, Research University of Tuebingen, Tuebingen, Germany

Matthias Meyer-Wittkopf, MD

Institute of Brain Research, University of Tuebingen, Tuebingen, Germany

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. (J Child Neurol 2006;21:426—429; DOI 10.2310/7010.2006.00125).

Journal of Child Neurology, Vol. 21, No. 5, 426-429 (2006)
DOI: 10.1177/08830738060210051501


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