Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
Fiche publication
Date publication
décembre 2022
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr VABRES Pierre
Tous les auteurs :
Di Rocco F, Licci ML, Garde A, Mottolese C, Thauvin-Robinet C, Chevarin M, Guibaud L, Vabres P, Kuentz P, Faivre L
Lien Pubmed
Résumé
Subjects with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) can present with a Chiari Malformation Type 1 and resulting alterations in cerebrospinal fluid (CSF) dynamics, which may require surgical treatment. The aim of this paper is to describe the features of children with MCAP who underwent surgical decompression for CM1, and to explore the PIK3CA variant allele frequency (VAF) identified in cerebellar parenchyma and other adjacent structures.
Mots clés
Cerebellar ectopia, Cerebrospinal fluid, Hydrocephalus, MCAP, PIK3CA, Physiopathology, Suboccipital decompression, Syringomyelia
Référence
Eur J Med Genet. 2022 12 8;:104678