‘This is clearly the most authoritative and contemporary statement of current knowledge yet published.’ H. Sarnat, Foreword
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.
International Review of Child Neurology Series No. 6
Foreword, Peter G Procopis
Preface, Harvey B Sarnat
Editor’s Preface, Paolo Curatolo
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
'The monograph is well written, well referenced, and intellectually stimulating.'
The American Academy of Neurology
'This is a book that should be in the library of every hospital where patients with TSC are treated. There are clear descriptions of varied manifestations of the condition and the research basis for the investigations, as well as three chapters on molecular genetics, neuropathology and molecular neurobiology that take us towards the understanding of how these somatic problems arise.'
Ann Hunt, Tuberous Sclerosis Association
'This is a superb book that will replace the previous definitive text Gomez, MR, Tuberous Sclerosis Complex, 3rd Edition, New York; Oxford University Press. It will be widely read and referenced by practitioners and academicians.' John Willis, Ochsner Clinic Foundation
'Professor Curatolo's book goes a long way to demystifying this complex disease. The piece on the cognitive and intellectual impairments of the disease is the most balanced and comprehensive summary of the subject to date.'
F O'Callaghan, Archives of Disease in Childhood
'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.'
John BP Stephenson, Journal of Pediatric Neurology