title: Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
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.
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel. cohenzr@bezeqint.net.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. cohenzr@bezeqint.net.
authors.forename: Rony
authors.initials: R
authors.lastname: Cohen
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Halevy
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Sharon
authors.initials: S
authors.lastname: Aharoni
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Dror
authors.initials: D
authors.lastname: Kraus
authors.affiliation: Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Osnat
authors.initials: O
authors.lastname: Konen
authors.affiliation: Pediatric Genetic Service, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.|Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Hadassa
authors.initials: H
authors.lastname: Goldberg-Stern
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.|Pediatric Genetic Service, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002648:Child; D003483:Cutis Laxa / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D065706:Polymicrogyria / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D035781:Siblings
keywords: Autosomal recessive cutis laxa type 2A; Myoclonic epilepsy; Polymicrogyria