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.

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.

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.

Das Buch informiert Sie systematisch über die therapeutischen Möglichkeiten bei neuropädiatrischen Erkrankungen. Die Therapievorschläge wurden nach Evidenzstärke und Evidenzgrad ausgewählt und klassifiziert.Die wichtigsten Störungsbilder und aktuelle Therapieempfehlungen auf einen Blick, z.B. Fehlbildungen des Zentralnervensystems, genetische Syndrome, neurokutane Erkrankungen, Anfallserkrankungen, Schmerzen (insbesondere Kopfschmerzen), Neuroonkologie, entzündliche und immunvermittelte Erkrankungen, neuromuskuläre Erkrankungen und psychische Störungen wie z.B. ADHS, Stottern, Autismus, Magersucht, nichtorganische Schlafstörungen.Neu in der 3. Auflage:- Alle Kapitel überarbeitet und aktualisiert- Die Kapitel Ophthalmologie und Pädaudiologie wurden völlig neu verfasst- Neues Kapitel zur Transition chronisch kranker und behinderter Jugendlicher in der Betreuung der Erwachsenenmedizin- Neue Therapieansätze für hereditäre Erkrankungen und in der Neuroonkologie

Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features.Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise.The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders.Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.

Das Buch informiert Sie systematisch �ber die therapeutischen M�glichkeiten bei neurop�diatrischen Erkrankungen. Die Therapievorschl�ge wurden nach Evidenzst�rke und Evidenzgrad ausgew�hlt und klassifiziert.

Die wichtigsten St�rungsbilder und aktuelle Therapieempfehlungen auf einen Blick, z.B. Fehlbildungen des Zentralnervensystems, genetische Syndrome, neurokutane Erkrankungen, Anfallserkrankungen, Schmerzen (insbesondere Kopfschmerzen), Neuroonkologie, entz�ndliche und immunvermittelte Erkrankungen, neuromuskul�re Erkrankungen und psychische St�rungen wie z.B. ADHS, Stottern, Autismus, Magersucht, nichtorganische Schlafst�rungen.

Neu in der 3. Auflage:

Alle Kapitel �berarbeitet und aktualisiert Die Kapitel Ophthalmologie und P�daudiologie wurden v�llig neu verfasst Neues Kapitel zur Transition chronisch kranker und behinderter Jugendlicher in der Betreuung der Erwachsenenmedizin Neue Therapieans�tze f�r heredit�re Erkrankungen und in der Neuroonkologie

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.

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.

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.

Das Buch informiert Sie systematisch über die therapeutischen Möglichkeiten bei neuropädiatrischen Erkrankungen. Die Therapievorschläge wurden nach Evidenzstärke und Evidenzgrad ausgewählt und klassifiziert.Die wichtigsten Störungsbilder und aktuelle Therapieempfehlungen auf einen Blick, z.B. Fehlbildungen des Zentralnervensystems, genetische Syndrome, neurokutane Erkrankungen, Anfallserkrankungen, Schmerzen (insbesondere Kopfschmerzen), Neuroonkologie, entzündliche und immunvermittelte Erkrankungen, neuromuskuläre Erkrankungen und psychische Störungen wie z.B. ADHS, Stottern, Autismus, Magersucht, nichtorganische Schlafstörungen.Neu in der 3. Auflage:- Alle Kapitel überarbeitet und aktualisiert- Die Kapitel Ophthalmologie und Pädaudiologie wurden völlig neu verfasst- Neues Kapitel zur Transition chronisch kranker und behinderter Jugendlicher in der Betreuung der Erwachsenenmedizin- Neue Therapieansätze für hereditäre Erkrankungen und in der Neuroonkologie

Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features.Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise.The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders.Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.

Das Buch informiert Sie systematisch �ber die therapeutischen M�glichkeiten bei neurop�diatrischen Erkrankungen. Die Therapievorschl�ge wurden nach Evidenzst�rke und Evidenzgrad ausgew�hlt und klassifiziert.

Die wichtigsten St�rungsbilder und aktuelle Therapieempfehlungen auf einen Blick, z.B. Fehlbildungen des Zentralnervensystems, genetische Syndrome, neurokutane Erkrankungen, Anfallserkrankungen, Schmerzen (insbesondere Kopfschmerzen), Neuroonkologie, entz�ndliche und immunvermittelte Erkrankungen, neuromuskul�re Erkrankungen und psychische St�rungen wie z.B. ADHS, Stottern, Autismus, Magersucht, nichtorganische Schlafst�rungen.

Neu in der 3. Auflage:

Alle Kapitel �berarbeitet und aktualisiert Die Kapitel Ophthalmologie und P�daudiologie wurden v�llig neu verfasst Neues Kapitel zur Transition chronisch kranker und behinderter Jugendlicher in der Betreuung der Erwachsenenmedizin Neue Therapieans�tze f�r heredit�re Erkrankungen und in der Neuroonkologie