Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
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.
McCann
Marcia V
MV
Department of Neurology, Division of Pediatric Neurology, Indiana University, Indianapolis, Indiana 46202, USA. mamccann@iupui.edu
Pongonis
Stephen J
SJ
Golomb
Meredith R
MR
Edwards-Brown
Mary
M
Christensen
Celanie K
CK
Sokol
Deborah K
DK
D000328:Adult; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D003210:Concept Formation; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000502:physiology; D005625:Frontal Lobe / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008433:Mathematics; D008569:Memory Disorders / Q000175:diagnosis / Q000235:genetics; D009483:Neuropsychological Tests; D009949:Orientation; D010364:Pattern Recognition, Visual; D054091:Periventricular Nodular Heterotopia / Q000175:diagnosis / Q000235:genetics*; D011340:Problem Solving; D014888:Wechsler Scales