title: Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
abstract: Bilateral periventricular nodular heterotopia is a neuronal migration disorder characterized by gray matter cellular rests in the periventricular regions. Megalencephaly has not been reported in children with bilateral periventricular nodular heterotopia. No other disorder with a similar phenotype has been reported. Here we report the case of a 5-year-old Japanese boy with bilateral periventricular nodular heterotopia and megalencephaly. Relative macrocephaly was evident at birth, and bilateral periventricular nodular heterotopia and megalencephaly were noted on magnetic resonance imaging (MRI). However, no hydrocephalus or indication of cerebral cortical dysplasia was seen. A mild intellectual disability was present, but the patient had no history of seizures. Genetic analysis revealed no mutation on the capillary sequences for FLNA, and no pathogenic abnormalities were evident on array comparative genomic hybridization. This case could represent a new disease entity: bilateral periventricular nodular heterotopia with megalencephaly.
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan aveyou@nifty.com.
authors: Yu
authors: Y
authors: Abe
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Satoru
authors: S
authors: Kobayashi
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Keisuke
authors: K
authors: Wakusawa
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Soichiro
authors: S
authors: Tanaka
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Takehiko
authors: T
authors: Inui
authors: Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors: Shinji
authors: S
authors: Kunishima
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Kazuhiro
authors: K
authors: Haginoya
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000150:complications* / Q000175:diagnosis; D054091:Periventricular Nodular Heterotopia / Q000150:complications* / Q000175:diagnosis
keywords: bilateral periventricular nodular heterotopia; macrocephaly; megalencephaly