Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology Series
Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology Series Edited by Paolo Curatolo London, Mac Keith Press, 2003, pp 328, 55.00, US$75.00 ISBN 1 898683 39 5 (Hardback)
This book is a comprehensive review of the clinical and molecular aspects of tuberous sclerosis, and is well-illustrated with clinical and radiological examples. It describes the historical evolution of our understanding of tuberous sclerosis and analyzes a wealth of research studies behind this. All relevant aspects of the condition are covered, although slanted towards a neurological perspective, and there is little overlap of chapter content – a problem sometimes encountered in edited multi-author books. There is an abundance of clinical data which is detailed and well-presented. The written content is good, and well-referenced. However, many of the radiological images look blurred and of poor definition, and the dermatological features could also be better illustrated e.g. a picture of ‘confetti’ lesions would have been helpful.
There are chapters addressing the molecular pathogenesis and genetic aspects. However, there is a significant lack of information on genetic counselling and on options open to families when planning children. A point not explained in sufficient detail (chapter on ‘Diagnostic Criteria’) is how to evaluate whether either parent of a child who has an apparently sporadic form of tuberous sclerosis could be mosaic for the condition (betrayed by minimal localized clinical features) and thus at risk of having further children with the condition. This is clearly of crucial importance for genetic counselling of families of a child with sporadic tuberous sclerosis. Separate chapters address neurological manifestations, epilepsy, autism, and intellectual problems of the condition, with attempts to understand and investigate the aetiology of these problems. This is followed by clear chapters on neuroimaging and the role of positron emission tomography as a tool for diagnosing complications of the condition. Intriguingly, there is a rather old-fashioned picture of a ‘neuromagnetometer’ (p 65) whose function is rather obscure and maybe obsolete.
Further chapters address other aspects of the clinical spectrum of complications, including dermatologic, renal, cardiac, and hepatosplenic involvement, although the possibility of renal cancer evolving from a benign kidney lesion should be discussed further because it is potentially serious. In general there is an under- emphasis on non-neurological clinical management and care pathways. The final chapter addresses genotype-phenotype correlations in a helpful way.
Overall, this is a very useful and comprehensive book with up-to- date molecular and diagnostic information which will be helpful to paediatricians, neurologists, geneticists, behavioural psychologists, radiologists, and others involved in the care of individuals with this serious and complex condition. It is particularly thorough on the neurological aspects of the disorder, and provides information about treatment, especially invasive aspects such as surgical treatment, but is somewhat lacking in other aspects of care.
Shirley V Hodgson
Copyright Mac Keith Press Nov 2004