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Neurocutaneous Syndromes in Children

 
    • eBook [PDF]

      48,99 €
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    Présentation

    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.

    Sommaire

    • Embryological basis of the neurocutaneous syndromes
    • Neurocutaneous diseases in children and adolescents: general clinical pattern
    • Hypomelanosis of Ito
    • Vascular malformations and neurocutaneous disorders
    • Neurocutaneous syndromes and hemimegalencephaly
    • Two rare neurocutaneous syndromes: Wyburn-Mason and Proteus
    • Diagnostic criteria and evaluation of patients with tuberous sclerosis complex
    • Epileptic manifestations in tuberous sclerosis
    • Tuberous sclerosis complex: phenotype-genotype correlations
    • Neurosurgical strategies in the management of subependymal giant cell tumors in tuberous sclerosis complex
    • The neurofibromatoses: clinical manifestations, natural history and management
    • Neurofibromatosis type 1: the dermatological option
    • Clinical molecular genetics of the neurofibromatoses
    • Cognitive-behavioural phenotype and neurobiological basis of neurofibromatosis type 1
    • Brain tumors in neurofibromatosis type 1
    • Novel therapeutic approaches for plexiform neurofibromas in neurofibromatosis type 1
    • Adjuvant therapy for low-grade glioma in neurofibromatosis type
    • Diagnostic and follow-up protocols for neurofibromatosis types 1 and 2

    Supports disponibles

    • eBook [PDF]

      Pdf PDF (Neurocutaneous Syndromes in Children - Les syndromes neurocutanés de l'enfant), format 175 x 250, 247 pages
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