ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Gaslini Pediatric Stroke Group

Research output: Contribution to journalArticlepeer-review


Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.

Original languageEnglish
Pages (from-to)725-728
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Issue number4
Publication statusPublished - Jul 2018


  • Adolescent
  • Child, Preschool
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Multidrug Resistance-Associated Proteins/genetics
  • Mutation
  • Pseudoxanthoma Elasticum/complications
  • Stroke/genetics


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