Journal Article

Periventricular nodular heterotopia with overlying polymicrogyria

Gretchen Wieck, Richard J. Leventer, Waney M. Squier, An Jansen, Eva Andermann, Francois Dubeau, Anna Ramazzotti, Renzo Guerrini and William B. Dobyns

in Brain

Published on behalf of The Guarantors of Brain

Volume 128, issue 12, pages 2811-2821
Published in print December 2005 | ISSN: 0006-8950
Published online December 2005 | e-ISSN: 1460-2156 | DOI:
Periventricular nodular heterotopia with overlying polymicrogyria

Show Summary Details


Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. Clinically, they present with epilepsy and developmental handicaps in both children and adults. Here we describe their occurrence together as the two major findings in a group of at least three cortical malformation syndromes. We identified 30 patients as having both PNH and PMG on brain imaging, reviewed clinical data and brain imaging studies (or neuropathology summary) for all, and performed mutation analysis of FLNA in nine patients. The group was divided into three subtypes based on brain imaging findings. The frontal-perisylvian PNH–PMG subtype included eight patients (seven males and one female) between 2 days and 10 years of age. It was characterized by PNH lining the lateral body and frontal horns of the lateral ventricles and by PMG most severe in the posterior frontal and perisylvian areas, occasionally with extension to the parietal lobes beyond the immediate perisylvian cortex. The posterior PNH–PMG subtype consisted of 20 patients (15 male and 5 female) between 5 days and 40 years of age. It was characterized by PNH in the trigones, temporal and posterior horns of the lateral ventricles, and PMG most severe in the temporo-parieto-occipital regions. The third type was found in 2 females aged 7 months and 2 years, and was characterized by severe congenital microcephaly and more diffuse cortical abnormality. The PNH–PMG subtypes described here have distinct imaging and clinical phenotypes that suggest multiple genetic aetiologies involving defects in multiple genes, and a shared pathophysiological mechanism for PNH and PMG. The frontal-perisylvian and posterior subtypes both had skewing of the sex ratio towards males, which suggests the possibility of X-linked inheritance. Delineation of these syndromes will also aid in providing more accurate diagnosis and prognostic information for patients with these malformations.

Keywords: heterotopia; microcephaly; periventricular nodular heterotopia; polymicrogyria; epilepsy; X-linked; MIC = microcephaly; PMG = polymicrogyria; PNH = periventricular nodular heterotopia

Journal Article.  7166 words.  Illustrated.

Subjects: Neurology ; Neuroscience

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.