© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Scientific Commentary |
Classifying a novel brain malformation
| The first 10% of the full text of this article appears below. |
In this issue of Brain, Barth et al. present four case histories of children with a constellation of symptoms representative of a new brainstem malformation and associated syndrome, calling it ‘pontine tegmental cap dysplasia’ (PTCD: Barth et al., 2007
; p. 2258). This new malformation appears to be part of the ‘molar tooth’ family of brainstem anomalies, although with some unique characteristics that differentiate PTCD from inclusion in the Joubert spectrum of disorders for which the molar tooth sign has been considered a pathognomonic finding. Thus it is worth considering that PTCD may be a novel category within the classification of midbrain and hindbrain malformations, as recently proposed (Parisi and Dobyns, 2003; Table 1).
|
Laboratory for Neurogenetics,
Department of Neurosciences,
University of California-San Diego, San Diego,
California, USA
E-mail: jogleeson@ucsd.edu