Tuberous Sclerosis Complex From Basic Science to Clinical Phenotypes

by Curatolo, Paolo

• ISBN13: 9781898683391
• ISBN10: 1898683395
• Edition: 1st
• Format: Hardcover
• Copyright: 2003-01-10
• Publisher: Mac Keith Press

Summary

"This is clearly the most authoritative and contemporary statement of current knowledge yet published." from the Foreword by H. SarnatTuberous 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.

Author Biography

Edited by Paolo Curatolo, Università degli Studi di Roma 'Tor Vergata'

Table of Contents

AUTHORS' APPOINTMENTS	vii
FOREWORD	ix
Peter G Procopis
PREFACE	xi
Harvey B Samnat
EDITOR'S PREFACE	xiii
Paolo Curatolo
1 HISTORICAL BACKGROUND	1	(10)
Paolo Curatolo
2 DIAGNOSTIC CRITERIA	11	(15)
Paolo Curatolo
3 NEUROLOGICAL MANIFESTATIONS	26	(20)
Paolo Curatolo and Magda Verdecchia
4 SEIZURES	46	(31)
Paolo Curatolo and Stefano Seri
5 INTELLECTUAL AND COGNITIVE IMPAIRMENTS	77	(14)
Patrick F Bolton
6 AUTISM	91	(18)
Michael Dowling and Paolo Curatolo
7 NEUROIMAGING	109	(15)
Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo
8 POSITRON EMISSION TOMOGRAPHY	124	(12)
Eishi Asano, Diane C Chugani and Harry T Chugani
9 DERMATOLOGICAL AND STOMATOLOGICAL MANIFESTATIONS	136	(34)
Sergiusz Józwiak and Robert Schwartz
10 OPHTHALMOLOGICAL MANIFESTATIONS	170	(10)
Sergiusz Józwiak
11 RENAL INVOLVEMENT	180	(16)
Sergiusz Józwiak
12 CARDIAC AND VASCULAR INVOLVEMENT	196	(19)
Sergiusz Józwiak
13 HEPATIC, LUNG, SPLENIC AND PANCREATIC INVOLVEMENT	215	(13)
Sergiusz Józwiak and Paolo Curatolo
14 MOLECULAR GENETICS	228	(36)
David J Kwiatkowski, Mary Pat Reeve, Jeremy P Cheadle and julian R Sampson
15 NEUROPATHOLOGY	264	(15)
Masashi Mizuguchi and Okio Hino
16 MOLECULAR NEUROBIOLOGY	279	(17)
Peter B Crino
17 FUTURE DIRECTIONS	296	(6)
Paolo Curatolo and Nunzio Bottini
INDEX	302