Les avancées concernant les signes cliniques, l'évolution et la gestion des troubles neurologiques en pédiatrie (neurofibromatose de type I, complexe de sclérose tubéreuse...), ainsi que les nouvelles données en génétique. ©Electre 2025
Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems.
In the past few years our knowledge of neurocutaneous syndromes has increased substantially. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype-phenotype correlations.
The aim of this volume is to provide an updated developmental perspective on these multi-faceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols, and novel therapeutic approaches.
This monograph provides the essential data about these rare conditions for child neurologists, paediatricians, dermatologists, and geneticists.
Paru le : 08/06/2006
Thématique : Neurologie - Psychiatrie
Auteur(s) : Non précisé.
Éditeur(s) :
John Libbey Eurotext
Collection(s) : Mariani Foundation paediatric neurology series
Contributeur(s) : Directeur de publication : Paolo Curatolo - Directeur de publication : Daria Riva - Auteur : Paolo Curatolo - Auteur : Daria Riva
Série(s) : Non précisé.
ISBN : Non précisé.
EAN13 : 9782742006090
Reliure : Broché
Pages : 238
Hauteur: 25.0 cm / Largeur 18.0 cm
Épaisseur: 1.7 cm
Poids: 632 g
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