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Paroxysmal periodic dystonic postures in an infant with 18q23 deletion syndrome

Nobustune Ishikawa1, Yoshiyuki Kobayashi, Yuji Fujii

  • 1Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan. ishikan@hiroshima-u.ac.jp

Neuropediatrics
|November 3, 2012
PubMed

Insights

18q23 deletion syndrome can cause neurological issues. This study identifies atypical periodic dystonic postures as a new potential symptom in infants with this genetic condition.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • 18q23 deletion syndrome is a rare genetic disorder associated with various neurological and psychiatric manifestations.
  • Commonly observed features include developmental delays, epilepsy, and autism spectrum disorder.

Observation:

  • This report details a female infant diagnosed with 18q23 deletion presenting with unusual periodic dystonic postures.
  • Video-electroencephalography (VEEG) was employed to assess these involuntary, non-epileptic movements.

Findings:

  • The infant exhibited paroxysmal periodic dystonia, a movement disorder characterized by sustained, involuntary muscle contractions.
  • This presentation is notably distinct from previously documented nonepileptic involuntary movements in adult patients with 18q23 deletion.

Implications:

  • The findings suggest that clustered periodic dystonia may represent an underrecognized phenotypic feature in infants with 18q23 deletion syndrome.
  • Clinical recognition of this symptom could aid in earlier diagnosis and management of affected children.

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