Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Livia Pisciotta, Valeria Capra, Andrea Accogli, Thea Giacomini, Giulia Prato, Purificação Tavares, Jorge Pinto-Basto, Giovanni Morana, Maria Margherita Mancardi

Research output: Contribution to journalArticle

Abstract

Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an ON-OFF behavior.

Original languageEnglish
Pages (from-to)217-221
Number of pages5
JournalNeuropediatrics
Volume49
Issue number3
DOIs
Publication statusPublished - Jun 1 2018

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Keywords

  • Adams-Oliver syndrome
  • AOS-variants
  • atypical absences
  • DOCK6
  • epileptic encephalopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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