Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
Neurogenetics
; 17(4): 251-257, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-27631729
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.
Palabras clave
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Epilepsias Mioclónicas
/
Cutis Laxo
/
Polimicrogiria
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Israel