Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child

Antonio Trabacca, Marta De Rinaldis, Leonarda Gennaro, Luciana Losito

Research output: Contribution to journalArticle

Abstract

Septo-optic dysplasia (SOD), also called De Morsier's syndrome, is a highly heterogeneous condition comprising a spectrum of central nervous system malformations that involves in various degrees the optic nerves, the hypothalamic-pituitary axis, and other midline structures such as the septum pellucidum and the corpus callosum. In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). The authors present a 6-year-old boy with dyskinetic cerebral palsy (athetoiddystonic subtype) associated with SOD-plus. Cranial magnetic resonance imaging (cMRI) revealed the total absence of septum pellucidum, optic nerve hypoplasia, hypoplasia of the corpus callosum and right occipital cortical dysplasia. The patient was diagnosed with septo-optic dysplasia-plus syndrome based on the cMRI findings. To the best of our knowledge, this is the first reported case in which defects of midline brain structures, like in SOD-plus, are associated with a significant hyperkinetic movement disorder such as dyskinesia.

Original languageEnglish
Pages (from-to)159-163
Number of pages5
JournalNeurological Sciences
Volume33
Issue number1
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Central nervous system malformations
  • Cerebral palsy
  • Child
  • Movement disorders
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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