‘This is clearly the most authoritative and contemporary statement of current knowledge yet published.’ from the Foreword by H. Sarnat Tuberous sclerosis is the prototype of a category of malformations uniquely characterized by disturbances in cellular differentiation and growth. It presents with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism. It is important not only because it is a relatively common hereditary neurological disease with high morbidity, but because it has implications in other pathological processes, such as dysplasia and neoplasia, hamartoma formation and other disturbances in morphogenic processes. This book correlates new genetic data and basic science, covers clinical presentation, reviews the historical background and current diagnostic criteria, and deals with the recent advances in neuropathology, molecular genetics and neurobiology which give a better understanding of the pathogenesis of the disease. Paediatricians and child neurologists will find this book uniquely useful.
• Comprehensive overview incorporating the most up-to-date science • Enables better recognition, understanding and diagnosis of a complex multisystem disorder • Covers clinical management, future and current research, and most recent findings from genetics and related fields
Contents
Index; Foreword H. Sarnat; Preface; 1. Historical background Paolo Curatolo; 2. Diagnostic criteria Paolo Curatolo; 3. Neurological manifestations Paolo Curatolo and Magda Verdecchia; 4. Seizures Paolo Curatolo and Stefano Seri; 5. Intellectual and cognitive impairments Patrick F. Bolton; 6. Autism Michael Dowling and Paolo Curatolo; 7. Neuroimaging Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo; 8. Positron emission tomography Eishi Asano, Diane C. Chugani and Harry T. Chugani; 9. Dermatologic and stomatologic manifestations Sergiusz Jozwiak and Robert Schwartz; 10. Ophthalmologic manifestations Sergiusz Jozwiak; 11. Renal involvement Sergiusz Jozwiak; 12. Cardiac and vascular involvement Sergiusz Jozwiak; 13. Hepatic, lung, splenic and pancreatic involvement Sergiusz Jozwiak and Paolo Curatolo; 14. Molecular genetics David J. Kwiatkowski, Mary Pat Reeve, Jeremy P. Cheadle and Julian R. Sampson; 15. Neuropathology Masashi Mizuguchi and Okio Hino; 16. Molecular neurobiology Peter B. Crino; 17. Future directions Paolo Curatolo.
Review
‘The previous giant of tuberous sclerosis was Manuel Gomez of the Mayo Clinic. The present giant is surely Paolo Curatolo. Others will surely stand on his shoulders, some of whom may have their enthusiasm first lit by reading this book. Pediatric neurologists, make sure you have it.’ Journal of Pediatric Neurology
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