Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg–Stern, Rachel Straussberg

Research output: Contribution to journalArticlepeer-review

Abstract

Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). One of the patients has myoclonic epilepsy which may have contributed to his more severe clinical presentation. The literature on cutis laxa syndromes is reviewed.

Original languageEnglish
Pages (from-to)251-257
Number of pages7
JournalNeurogenetics
Volume17
Issue number4
DOIs
StatePublished - 1 Oct 2016

Keywords

  • Autosomal recessive cutis laxa type 2A
  • Myoclonic epilepsy
  • Polymicrogyria

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