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

doi:10.1007/s10048-016-0491-3

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

^*Corresponding author for this work

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6 Scopus citations

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 language	English
Pages (from-to)	251-257
Number of pages	7
Journal	Neurogenetics
Volume	17
Issue number	4
DOIs	https://doi.org/10.1007/s10048-016-0491-3
State	Published - 1 Oct 2016

Keywords

Autosomal recessive cutis laxa type 2A
Myoclonic epilepsy
Polymicrogyria

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10.1007/s10048-016-0491-3

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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.",

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AU - Konen, Osnat

AU - Basel-Vanagaite, Lina

AU - Goldberg–Stern, Hadassa

AU - Straussberg, Rachel

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AB - 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.

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

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