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This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise.
Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders.
The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
Pages i-xxiii
Pages 1-1
Genetics of Neurocutaneous Syndromes
Eric Legius
Pages 3-16
Superimposed Mosaicism in Neurocutaneous Syndromes
Rudolf Happle
Pages 17-24
Neuroimaging and Sonography of Neurocutaneous Disorders
Christos P. Panteliadis, Christian Hagel, Barbara Hofstadler, Martin Bendszus, Tim Godel, Summer Kaplan et al.
Pages 25-52
Neuropathology of Neurocutaneous Disorders
Christian Hagel, Jakob Matschke, Klaus Kuchelmeister
Pages 53-80
Pages 81-81
Anne M. Comi
Pages 83-96
Ataxia-Telangiectasia (Louis-Bar Syndrome)
Christos P. Panteliadis, Ramsis Benjamin
Pages 97-104
Hypomelanosis of Ito (Incontinentia Pigmenti Achromians)
Christos P. Panteliadis
Pages 105-109
Lukas Kieswetter, Elena Pope
Pages 111-133
Klippel-Trénaunay Syndrome (Klippel-Trénaunay-Weber Syndrome)
Christos P. Panteliadis
Pages 135-142
Michael Waul, Daniel M. Klufas, Jeffrey L. Sugarman
Pages 143-180
Christos P. Panteliadis
Pages 181-189
Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Ramsis Benjamin
Pages 191-197
Cowden Disease, Lhermitte-Duclos Disease, and Bannayan-Riley-Ruvalcaba Syndrome
Christos P. Panteliadis
Pages 199-203
Spinal Arteriovenous Metameric Syndrome (Cutaneomeningospinal Angiomatosis or Cobb Syndrome)
Ramsis Benjamin
Pages 205-208
Cutis Marmorata Telangiectatica Congenita (Van Lohuizen’s Syndrome)
Christos P. Panteliadis
Pages 209-213
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)
Christian Hagel, Christos P. Panteliadis
Pages 215-219
LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa)
Christian Hagel, Christos P. Panteliadis
Pages 221-226
MIDAS Syndrome (Microphthalmia with Linear Skin Defects)
Christian Hagel, Christos P. Panteliadis
Pages 227-230
Oculocerebrocutaneous Syndrome (Delleman-Oorthuys Syndrome)
Christos P. Panteliadis
Pages 231-234
Christian Hagel, Christos P. Panteliadis
Pages 235-238
Christos P. Panteliadis
Pages 239-246
Christos P. Panteliadis, Reinhard E. Friedrich
Pages 247-253
Wyburn-Mason Syndrome (Bonnet-Dechaume-Blanc Syndrome)
Christos P. Panteliadis, Christian Hagel
Pages 255-257
Cerebello-Trigemino-Dermal Dysplasia (Gomez-López-Hernández Syndrome)
Christos P. Panteliadis
Pages 259-261
Vascular Tumours (Haemangiomas)
Markus Schneider
Pages 263-278
Pages 279-279
Victor-Felix Mautner
Pages 281-313
Tuberous Sclerosis (Bourneville Disease)
Monica P. Islam, Christos P. Panteliadis, Paolo Curatolo
Pages 315-332
Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau Syndrome)
Christos P. Panteliadis, Ramsis Benjamin
Pages 333-342
Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
Christos P. Panteliadis, Reinhard E. Friedrich
Pages 343-352
Christos P. Panteliadis
Pages 353-359
Xeroderma Pigmentosum (Kaposi Dermatosis)
Ramsis Benjamin
Pages 361-367
Pages 369-369
Cerebrotendinous Xanthomatosis
Ramsis Benjamin
Pages 371-375
Ramsis Benjamin
Pages 377-381
Christos P. Panteliadis
Pages 383-388
Christos P. Panteliadis
Pages 389-392
Christos P. Panteliadis
Pages 393-399
Ichthyosis-Trichothiodystrophy Syndrome
Christos P. Panteliadis
Pages 401-407
Christos P. Panteliadis
Pages 409-412
Christos P. Panteliadis
Pages 413-415
Hutchinson-Gilford Progeria Syndrome
Christos P. Panteliadis
Pages 417-423
Lipoid Proteinosis (Urbach-Wiethe Syndrome)
Christian Hagel, Christos P. Panteliadis
Pages 425-428
Ramsis Benjamin
Pages 429-434
Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)
Christos P. Panteliadis, Christian Hagel
Pages 435-443
Refsum Disease (Heredopathia Atactica Polyneuritiformis)
Christos P. Panteliadis, Christian Hagel
Pages 445-450
Christos P. Panteliadis
Pages 451-457
Dominique P. Germain
Pages 459-465
Pages 467-467
Ocular Manifestations of Neurocutaneous Syndromes
Trisha Kandiah, Deeksha Kundapur, Michael D. O’Connor
Pages 469-481
Neurosurgical Management of Neurocutaneous Disorders
Michael Vassilyadi, Diana-Cristina Ghinda
Pages 483-501
Presurgical Evaluation of Children with Tuberous Sclerosis Complex and Epilepsy
Georg Dorfmüller, Martine Fohlen
Pages 503-514
Managing Epilepsy in Neurocutaneous Disorders
Cliff Hampton, Ramsis Benjamin
Pages 515-525
Orthopaedic Problems in Neurocutaneous Disease
Michèle Kläusler, Erich Rutz
Pages 527-538
Improving Quality of Life in the Neurocutaneous Syndromes
Alasdair P. J. Parker, Frederick J. Wilkinson, Finbar J. O’Callaghan, Sam Amin
Pages 539-550
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