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Excerpt
This book follows the latest edition of Manuel Gomez's classic text on tuberous sclerosis complex (TSC) by only four years. Paolo Curatolo's stated goal for this volume is to summarize the large quantity of new molecular and genetic data which have been generated in the last few years. Thankfully, for the sake of Developmental-Behavioral Pediatricians who might happen upon this book, a large portion of it is devoted to giving a context for understanding these latest discoveries. Hence, while it is not the sort of book that one would leaf through by the pool, it is a thorough and readable reference text which should prove useful to the clinician.
Included are very complete chapters devoted to such topics as: neurological manifestations, seizures, intellectual impairments, autism, and neuroimaging as related to TSC, all of which were of great interest. There are also chapters (of perhaps less interest to the DB pediatrician) on: dermatological, ophthalmological, renal cardiac and vascular manifestations, as well as chapters summarizing the latest findings in molecular genetics, neuropathology, and molecular neurobiology, and a chapter describing future directions for research.
The first chapter, authored by the editor, is a brief summary of the history of the discovery and characterization of TSC. The earliest case reports are described, giving insight about the evolution of the definition and diagnostic criteria of TSC. The most remarkable aspect of the history is the account of Critchley and Earl's 1932 description of 29 patients with TSC, in several of whom a "primitive form of catatonic schizophrenia" was identified. Critchley and Earl's description of "primitive psychosis" is clearly an astute characterization of autism, predating Kanner's classic paper by 11 years:
"All manner of bizarre attitudes and stereotyped movements occur and these are most striking in the hands and fingers…These movements appear to have some significance for the patients; they occur when the appearance of dissociation is most marked and the eyes usually fixate the moving hand. The patients grow solitary, silent and apathetic and liable to sudden brief outbursts of motiveless excitement" (pp. 91).
Curatolo notes that it would be another 50 years after Critchley and Earl's finding that the high incidence of autism in TSC would be established. However, the identification of autism in several out of 29 patients with TSC was surely suggestive of an association between the two disorders, given their respective low prevalences. Though their nomenclature reflects the fact that they predated Kanner's classic paper, Critchley and Earl clearly identified a neuropathological etiology for autism. It is interesting to consider whether this evidence, had it been better known, might have contributed to an earlier decline in the "refrigerator mom" hypothesis.
Curatolo makes it clear that his fascination with TSC is not only in the specifics of the disorder itself but also in the insights it offers into the pathogenesis of such conditions as autism, learning disability, mental retardation, and epilepsy. A large portion of the book is also devoted to describing the contributions made by TSC research to the basic sciences of cellular differentiation, proliferation, migration, and epileptogenesis.
Conversely, advances in basic cellular biology offer clinical insights into TSC. For example, the wide range of clinical severity can be attributed to the fact that somatic loss of heterozygosity is required for tuber development. The number and distribution of tubers is directly related to the timing of this event during development. The book cites multiple fascinating studies of the importance of the localization of cortical lesions.
