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

Published on Sep 8, 2016in Neurogenetics
2.66
· DOI :10.1007/s10048-016-0491-3
Rony Cohen8
Estimated H-index: 8
(Children's Medical Center),
Ayelet Halevy11
Estimated H-index: 11
(Children's Medical Center)
+ 5 AuthorsRachel Straussberg35
Estimated H-index: 35
(Children's Medical Center)
Source
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.
References32
Cited By3
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