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.
Foreword by H. Sarnat.
- Historical background, Paolo Curatolo
- Diagnostic criteria, Paolo Curatolo
- Neurological manifestations, Paolo Curatolo and Magda Verdecchia
- Seizures, Paolo Curatolo and Stefano Seri
- Intellectual and cognitive impairments, Patrick F. Bolton
- Autism, Michael Dowling and Paolo Curatolo
- Neuroimaging, Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo
- Positron emission tomography, Eishi Asano, Diane C. Chugani and Harry T. Chugani
- Dermatologic and stomatologic manifestations, Sergiusz Jozwiak and Robert Schwartz
- Ophthalmologic manifestations, Sergiusz Jozwiak
- Renal involvement, Sergiusz Jozwiak
- Cardiac and vascular involvement, Sergiusz Jozwiak
- Hepatic, lung, splenic and pancreatic involvement, Sergiusz Jozwiak and Paolo Curatolo
- Molecular genetics, David J. Kwiatkowski, Mary Pat Reeve, Jeremy P. Cheadle and Julian R. Sampson
- Neuropathology, Masashi Mizuguchi and Okio Hino
- Molecular neurobiology, Peter B. Crino
- Future directions, Paolo Curatolo