neurofibromatosis (von recklinghausen disease): genetics, cell biology and biochemistsry (advances...

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BOOKS Neurology of the Newborn By Joseph J . Volpe, M D W. B. Saunders Compuny, Philadelphia, 1981 648 pp, illustrated, $50.00 This superbly written monograph provides for the first time a comprehensive review of what is rapidly becoming a distinctive pediatric and neurological discipline. It is ap- propriate that Dr Volpe has solely authored such a treatise, given his extensive knowledge of the field and the objec- tivity of his previous publications. The monograph covers all major topics of neurological interest, with justifiable emphasis on perinatal intraven- tricular hemorrhage, cerebral hypoxia-ischemia, congenital malformations, and common metabolic derangements. Also noteworthy is Dr Volpe’s use of knowledge derived from animal research and its incorporation into what is known at present concerning the pathogenesis of perinatal neurological disorder and the management of neurologi- cally stressed newborn infants. Each subject has been exhaustively researched and the material succinctly pre- sented. Illustrations and tables are used liberally to amplify the text. Extensive bibliographies appear at the end of each chapter and the text is well indexed. Dr Volpe’s book surely will become the standard refer- ence on perinatal neurology. It should be required reading for all physicians dealing directly with sick newborn infants. Robert C. Vannurrz, M D Departments of Pediatrics Carnell University Medical College New York, NY 10021 and Neurology International Review of Neurobiology, Vol 22 Edited by J. R. Smythies and R. J : Bradley Arademir Press, New York, 1981 344 pp, illustrated In the past, observes Dr Louis Sokoloff toward the end of this useful and provocative collection of reviews, “from the heavy emphasis that has been placed on electrophysiology, one might gather that the brain is really an electric organ rather than a chemical one that functions mainly by release of chemical transmitters at synapses.” This traditional im- balance is rapidly being corrected by the spectacular growth of chemical, molecular, and fluid neurobiology, of which the present volume is ample proof. Broadly divided in scope between transmitterlreceptor studies (A. Schousboe on GABA and glutamate; Barker et a1 on N,N-dimethyltryptamine [DMT]; L. C. Murrin on autoradiographic localization of receptors, the McGeers on neurotoxins; and Shain and Carpenter on synaptic mod- ulation) and metabolic studies (A. L. Miller on cerebral metabolism in hypercapnia, seizures, and the neonate; L. Sokoloff on neuroanatomical functional mapping with 2- deoxyglucose; and Leonard and Tuite on olfactory bulbec- tomy), the reviews place considerable emphasis on clinical implications. These are always ingenious, as in the case of the hallucinogenic properties of DMT, and often practical, as in the case of GABA antagonists. From the general standpoint of the natural sciences, perhaps the most impressive developments are the autoradiographic vi- sualizations of receptor systems (L. C. Murrin) and func- tional activity (L. Sokoloff), of which the latter has shown direct diagnostic applicability through the use of 18- fluor-labeled 2-deoxyglucose in positron emission tomog- raphy. May the volume be widely read, also by science ad- ministrators entrusted with the budgetary care of the neurosciences! Albert Gjedde, M D Medical Physiology Department A The Panum Institute Copenhagen University Blegdamsvej 3 Copenhagen 21 00, Denmark Neurofibromatosis (Von Recklinghausen Disease): Genetics, Cell Biology and Biochemistry (Advances in Neurology, Vol29) Edited by Vincent M. Rircardi and John J . Mulvihill Raven Press, New York, 1981 302 pp, illustrated, $29.50 It is one hundred years since Von Recklinghausen de- scribed multiple neurofibromatosis in a festschrift for his teacher, Rudolf Virchow. Neurofibromatosis now is known to be a common genetic disorder with diverse features that lie within the scope of virtually all clinical specialties. Medical fascination with the disease is reflected by the many case reports which continue to catalog its innumer- able manifestations. Public interest in the disfiguring peripheral manifestations is evident from the recent suc- cess of the Broadway play and movie “The Elephant Man,” the story of John Merrick. Merrick is perhaps the most fa- mous person with neurofibromatosis-associated disfigura- tion and was a celebrity in Victorian England. His photo- graph during life and a photograph of his skeleton, both contained in this volume, demonstrate extensive hemi- hypertrophy. This excellent volume is a worthy, if unintended, com- memoration of one hundred years of study on neu- rofibromatosis. It presents a multidisciplinary analysis of the disorder that will be of interest and use to neurologists, geneticists, oncologists, pathologists, biologists, embry- ologists, and immunologists. An opening section describes the clinical and pathologi- cal features of the disease and its natural history, and calls attention to its neoplastic association. Subsequent chapters discuss the concept of neurofibromatosis as a neurocris- topathy, the relationship of hormones and growth factors to the disorder, other cellular and biochemical mechan- isms which may play a role, and methods for analyzing neurofibromatosis and other genetic diseases. Also in- cluded are a geneticist’s synthesis of the data and a sum- mary of the diagnostic criteria. Most appropriately, the volume concludes with a translation of Von Reckling- hausen’s original case reports. This book is highly recom- mended. John J . Caronna, M D New York, N Y 118

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Page 1: Neurofibromatosis (Von Recklinghausen disease): Genetics, cell biology and biochemistsry (advances in neurology, vol 29). Edited by Vincent M. Riccardi and John J. Mulvihill Raven

BOOKS

Neurology of the Newborn By Joseph J . Volpe, M D W . B. Saunders Compuny, Philadelphia, 1981 648 pp , illustrated, $50.00

This superbly written monograph provides for the first time a comprehensive review of what is rapidly becoming a distinctive pediatric and neurological discipline. It is ap- propriate that D r Volpe has solely authored such a treatise, given his extensive knowledge of the field and the objec- tivity of his previous publications.

The monograph covers all major topics of neurological interest, with justifiable emphasis o n perinatal intraven- tricular hemorrhage, cerebral hypoxia-ischemia, congenital malformations, and common metabolic derangements. Also noteworthy is D r Volpe’s use of knowledge derived from animal research and its incorporation into what is known at present concerning the pathogenesis of perinatal neurological disorder and the management of neurologi- cally stressed newborn infants. Each subject has been exhaustively researched and the material succinctly pre- sented. Illustrations and tables are used liberally to amplify the text. Extensive bibliographies appear at the end of each chapter and the text is well indexed.

D r Volpe’s book surely will become the standard refer- ence on perinatal neurology. It should be required reading for all physicians dealing directly with sick newborn infants.

Robert C. Vannurrz, M D Departments o f Pediatrics

Carnell University Medical College New York, N Y 10021

and Neurology

International Review of Neurobiology, Vol 22 Edited by J . R. Smythies and R. J : Bradley Arademir Press, New York, 1981 344 pp , illustrated

In the past, observes Dr Louis Sokoloff toward the end of this useful and provocative collection of reviews, “from the heavy emphasis that has been placed on electrophysiology, one might gather that the brain is really an electric organ rather than a chemical one that functions mainly by release of chemical transmitters at synapses.” This traditional im- balance is rapidly being corrected by the spectacular growth of chemical, molecular, and fluid neurobiology, of which the present volume is ample proof.

Broadly divided in scope between transmitterlreceptor studies (A. Schousboe on GABA and glutamate; Barker et a1 on N,N-dimethyltryptamine [DMT]; L. C. Murrin on autoradiographic localization of receptors, the McGeers on neurotoxins; and Shain and Carpenter on synaptic mod- ulation) and metabolic studies (A. L. Miller on cerebral metabolism in hypercapnia, seizures, and the neonate; L. Sokoloff on neuroanatomical functional mapping with 2- deoxyglucose; and Leonard and Tuite on olfactory bulbec- tomy), the reviews place considerable emphasis on clinical implications. These are always ingenious, as in the case of the hallucinogenic properties of DMT, and often practical, as in the case of GABA antagonists. From the general

standpoint of the natural sciences, perhaps the most impressive developments are the autoradiographic vi- sualizations of receptor systems (L. C. Murrin) and func- tional activity (L. Sokoloff), of which the latter has shown direct diagnostic applicability through the use of 18- fluor-labeled 2-deoxyglucose in positron emission tomog- raphy. May the volume be widely read, also by science ad- ministrators entrusted with the budgetary care of the neurosciences!

Albert Gjedde, M D Medical Physiology Department A The Panum Institute Copenhagen University Blegdamsvej 3 Copenhagen 21 00, Denmark

Neurofibromatosis (Von Recklinghausen Disease): Genetics, Cell Biology and Biochemistry (Advances i n Neurology, V o l 2 9 ) Edited by Vincent M . Rircardi and John J . Mulvihill Raven Press, New York, 1981 302 pp , illustrated, $29.50

It is one hundred years since Von Recklinghausen de- scribed multiple neurofibromatosis in a festschrift for his teacher, Rudolf Virchow. Neurofibromatosis now is known to be a common genetic disorder with diverse features that lie within the scope of virtually all clinical specialties. Medical fascination with the disease is reflected by the many case reports which continue to catalog its innumer- able manifestations. Public interest in the disfiguring peripheral manifestations is evident from the recent suc- cess of the Broadway play and movie “The Elephant Man,” the story of John Merrick. Merrick is perhaps the most fa- mous person with neurofibromatosis-associated disfigura- tion and was a celebrity in Victorian England. His photo- graph during life and a photograph of his skeleton, both contained in this volume, demonstrate extensive hemi- hypertrophy.

This excellent volume is a worthy, if unintended, com- memoration of one hundred years of study on neu- rofibromatosis. It presents a multidisciplinary analysis of the disorder that will be of interest and use to neurologists, geneticists, oncologists, pathologists, biologists, embry- ologists, and immunologists.

An opening section describes the clinical and pathologi- cal features of the disease and its natural history, and calls attention to its neoplastic association. Subsequent chapters discuss the concept of neurofibromatosis as a neurocris- topathy, the relationship of hormones and growth factors to the disorder, other cellular and biochemical mechan- isms which may play a role, and methods for analyzing neurofibromatosis and other genetic diseases. Also in- cluded are a geneticist’s synthesis of the data and a sum- mary of the diagnostic criteria. Most appropriately, the volume concludes with a translation of Von Reckling- hausen’s original case reports. This book is highly recom- mended.

John J . Caronna, M D New York, N Y

118