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Like Father, Like Son: Periventricular Nodular Heterotopia and Nonverbal Learning Disorder

Department of Neurology, Division of Pediatric Neurology, Indiana University, mamccann{at}iupui.edu

Stephen J. Pongonis, PsyD

Department of Neurology, Division of Pediatric Neurology, Indiana University

Meredith R. Golomb, MD, MSc

Department of Neurology, Division of Pediatric Neurology, Indiana University

Mary Edwards-Brown, MD

Department of Radiology, Indiana University, Indianapolis, Indiana

Celanie K. Christensen, MSc

Department of Neurology, Division of Pediatric Neurology, Indiana University

Deborah K. Sokol, MD, PhD

Department of Neurology, Division of Pediatric Neurology, Indiana University

Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual–spatial learning deficits, consistent with nonverbal learning disability.

Key Words: periventricular nodular heterotopia • visual–spatial deficits • nonverbal learning disability

Journal of Child Neurology, Vol. 23, No. 8, 950-953 (2008)
DOI: 10.1177/0883073808315415


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