Overview

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.

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9783030878955

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Prof. Dr. med. Christos P. Panteliadis. Medical education at Universities of Vienna (Austria) and Kiel (Germany). Training as pediatrician at the hospitals of Thessaloniki (Greece) and principal in St. Georg Hospital Hamburg (Germany). Specialisation in Neuropaediatrics in Frankfurt, Hamburg and other Medical Schools in Germany. Professor of Paediatrics, Paediatric Neurology and Developmental Medicine at Aristotle University, Thessaloniki, and Director of the 3rd Pediatric Department at Ippokraton Hospital Thessaloniki. Administrative work in the health system in northern Greece. Retired in 2010. Since then been active at a private clinic. Has organized several conferences, workshops, symposia and further education courses; Has established the Society of Paediatric Neurology in Greece and was the president of this society for many years, and president of Northgreece paediatricians. Is the author of several articles and textbooks for students and paediatricians, neuropaediatricians and neurologists in Greece, and in Editorial board of Medical journals. Has edited three editions of Paediatric Neurology in English; three editions of Neuropaediatrie - Evidenzbasierte Therapie in German; two editions of Neurocutaneous Disorders - A Clinical, Diagnostic and Therapeutic Approach in English; and three editions of Cerebral Palsy - A Multidisciplinary Approach in English. Ramsis Benjamin, MD, MPH. Associate Clinical Professor at the University of Washington, in Seattle, and Associate Professor at Oregon Health and Science University, in Portland, Oregon, USA. Practices General Neurology, Adolescents and Adults, and Electrophysiology at Kootenai Health, Coeur d'Alene, Idaho. Prof. Dr. med. Christian Hagel. Medical education at the University of Hamburg (Germany) and Newcastle upon Tyne (United Kingdom), Senior consultant of neuropathology at the Institute of Neuropathology, University of Hamburg Medical School, Head of the German Reference Centre of CSF-cytology for brain tumours in childhood. Research areas neuro-oncology, rare neurological diseases, vasculopathies.

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