Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures

Jules C. Beal

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Neuronal migration disorders are a group of disorders that cause structural brain abnormalities and varying degrees of neurocognitive impairment, resulting from abnormal neuronal migration during brain development. There are several mutations that have been associated with these disorders. Here the case of a 4-year-old autistic boy is presented, who was found to have evidence of a neuronal migration disorder on magnetic resonance imaging (MRI) during a workup for seizures. Genetic testing did not reveal any of the gene mutations known to be associated with neuronal migration disorders but did reveal a microduplication at chromosome 15q13.3, a locus that has been previously associated with autism, cognitive impairment, and seizures. Although the concurrent presence of the genetic and structural abnormalities does not necessarily imply causality, the simultaneous independent occurrence of both conditions is certainly unusual. It is possible that there may be an association between this duplication syndrome and aberrant neuronal migration.

Original languageEnglish (US)
Pages (from-to)NP186-NP188
JournalJournal of Child Neurology
Volume29
Issue number12
DOIs
StatePublished - 2014

Fingerprint

Group II Malformations of Cortical Development
Chromosome Duplication
Autistic Disorder
Seizures
Mutation
Brain
Genetic Testing
Causality
Chromosomes
Magnetic Resonance Imaging
Genes

Keywords

  • 15q13.3 duplication
  • Autism
  • Epilepsy
  • Neuronal migration disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Case report : Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures. / Beal, Jules C.

In: Journal of Child Neurology, Vol. 29, No. 12, 2014, p. NP186-NP188.

Research output: Contribution to journalArticle

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