Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

Childs Nerv Syst. 2022 Oct;38(10):2029-2032. doi: 10.1007/s00381-022-05529-0. Epub 2022 Apr 27.

Abstract

Introduction: Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger.

Case report: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far.

Discussion: We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.

Keywords: Cell proliferation; Centriole; Choroid plexus; Cilia.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum / diagnostic imaging
  • Encephalocele / complications
  • Encephalocele / diagnostic imaging
  • Humans
  • Male
  • Polydactyly* / complications
  • Polydactyly* / diagnostic imaging
  • Polydactyly* / genetics
  • Polymicrogyria* / diagnostic imaging
  • Syndrome