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Cerebellar Disorders in Children – Chapter 30: Prenatal Cerebellar Disruptions (ebook)

This chapter is part of Cerebellar Disorders in Children

Product Type: PDF (Sub-Section of Book)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: January 2012

Page count: 11

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Chapter 30 – Prenatal Cerebellar Disruptions

Andrea Poretti and Eugen Boltshauser

Disruptions are defined as morphological defects of an organ, part of an organ, or a larger region of the body resulting from an extrinsic breakdown of, or an interference with, an originally normal developmental process (Reardon and Donnai 2007). The prenatal cerebellar disruptions which are discussed in this chapter are global cerebellar hypoplasia, cerebellar cleft, unilateral cerebellar hypoplasia, and vanishing cerebellum in myelomeningocele. Cerebellar agenesis has been discussed separately (see Chapter 7). Indeed, some disorders such as global cerebellar hypoplasia, cerebellar agenesis, and cerebellar cortical dysplasia may be due to a ‘malformation’ as well as to a ‘disruption’.

Please note that Chapters 30 and 31 are also available in Part 6: Cerebellar Disruptions.

About the Complete Book:

This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical experience backed up by a strong scientific basis for the information and guidance given. The first part sets out the theoretical underpinnings of cerebellar disorders. This is followed by sections on clinical conditions grouped according to common characteristics such as aetiology and symptomatology. The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis, and management and treatment. This book will be an invaluable resource for all those caring for children affected by cerebellar disorders, including malformations, genetic and metabolic disorders, acquired cerebellar damage, vascular disorders and acute ataxias. This comprehensive reference text on cerebellar disorders in children includes chapters on cerebellar development, prenatal cerebellar imaging, imaging of the posterior fossa, with coverage of a broad range of malformations, genetic and metabolic disorders involving the cerebellum, prenatal cerebellar disruptions (as related to prematurity), vascular disorders, tumors and paraneoplastic syndromes, as well as acute ataxia and trauma to the posterior fossa. Numerous checklists are provided to assist in the differential diagnosis of clinical signs and neuroimaging findings.

Readership 
Paediatric neurologists, paediatricians, neurologists, developmental paediatricians, neuroimaging specialists, geneticists, neonatologists

Clinics in Developmental Medicine No. 191-192

Andrea Poretti and Eugen Boltshauser (Chapter Authors) Eugen Boltshauser (Editor)

Head of Department of Paediatric Neurology
University Children's Hospital Zurich Switzerland (Emeritus)

Jeremy Schmahmann (Editor)

Professor of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA. Director, Ataxia Unit; Faculty member, Cognitive Behavioural Neurology Unit, Massachusetts General Hospital, Boston, MA. Neurology Clerkship Director, Massachusetts General Hospital.

  • FULL BOOK CONTENTS
  • Authors' Appointments ix
  • Foreword xi
  • Preface xii
  • About the Editors xiv
  • Part 1: Cerebellar Development 1
  • 1 Cerebellar Development 3
  • Kathryn E. Waimey, Samin A. Sajan, and Kathleen J. Millen
  • Part 2: Cerebellar Anatomy and Functions 21
  • 2 Essential Anatomy of the Cerebellum and Related Structures 23
  • Patricia L. Musolino, Catherine J. Stoodley, and Jeremy D. Schmahmann
  • 3 Approach to the Neurological Examination of Children with Cerebellar Disorders 45
  • Peter Tsai, Katherine B. Sims, and Jeremy D. Schmahmann
  • 4 Impairments of Cognition and Emotion in Children with Cerebellar Disorders:
  • An Approach to Recognition, Evaluation, and Treatment 58
  • Jeremy D. Schmahmann, Annah N. Abrams, and Janet C. Sherman
  • Part 3: Imaging of the Cerebellum 77
  • 5 Prenatal Cerebellar Imaging 79
  • Daniel A. Doherty and Deborah Levine
  • 6 Neuroimaging of the Posterior Fossa 94
  • Thierry A.G.M. Huisman
  • Part 4: Malformations 113
  • Introductory comments and glossary 114
  • 7 Cerebellar Agenesis 117
  • Andrea Poretti, Eugen Boltshauser, and Jeremy D. Schmahmann
  • 8 Cerebellar Hypoplasia 122
  • Andrea Poretti and Eugen Boltshauser
  • 9 Nonprogressive Congenital Ataxia 135
  • Eugen Boltshauser and Andrea Poretti
  • 10 Dandy-Walker Malformation 140
  • Andrea Poretti, Kathleen J. Millen, and Eugen Boltshauser
  • 11 Joubert Syndrome and Related Disorders 149
  • Enza Maria Valente, Francesco Brancati, and Bruno Dallapiccola
  • 12 Chiari Type I Malformation 158
  • Michael S. Salman
  • 13 Chiari Type II Malformation 164
  • Michael S. Salman
  • 14 Cerebellar Dysplasia 172
  • Andrea Poretti and Eugen Boltshauser
  • 15 Cerebellar Cysts and Neuroimaging in Congenital Muscular Dystrophies 177
  • Andrea Poretti, Andrea Klein, and Eugen Boltshauser
  • 16 Rhombencephalosynapsis and Gomez-Lopez-Hernandez syndrome Syndrome 184
  • Andrea Poretti and Eugen Boltshauser
  • 17 Macrocerebellum 192
  • Andrea Poretti and Eugen Boltshauser
  • 18 Hemicerebellar Megalencephaly 194
  • Andrea Poretti and Eugen Boltshauser
  • 19 Brainstem Disconnection 198
  • Andrea Poretti and Eugen Boltshauser
  • 20 Pontine Tegmental Cap Dysplasia 202
  • Andrea Poretti and Eugen Boltshauser
  • 21 Brainstem Malformations Associated with Cerebellar Abnormalities 208
  • Andrea Poretti and Eugen Boltshauser
  • 22 Posterior Fossa Cysts and Cyst-like Malformations (Blake‚Äôs Pouch Cyst,
  • Arachnoid Cysts, and Mega Cisterna Magna) 212
  • Andrea Poretti, Ianina Scheer, and Eugen Boltshauser
  • Part 5: Genetic and Metabolic Disorders 217
  • 23 Pontocerebellar Hypoplasias 219
  • Peter G. Barth
  • 24 Autosomal Dominant Spinocerebellar Ataxias 228
  • Andrea H. Nemeth
  • 25 X-linked Cerebellar Disorders 241
  • Ginevra Zanni and Enrico Bertini
  • 26 Recessive Ataxias 253
  • Alessandra Terracciano, Ginevra Zanni, and Enrico Bertini
  • 27 Ataxia in Metabolic and White Matter Disorders 269
  • Nicole I. Wolf
  • 28 The Episodic Ataxias 282
  • Tracey D. Graves and Michael G. Hanna
  • 29 Neurocutaneous Syndromes with Cerebellar Involvement 291
  • Thierry A.G.M. Huisman
  • Part 6: Cerebellar Disruptions 303
  • 30 Prenatal Cerebellar Disruptions 305
  • Andrea Poretti and Eugen Boltshauser
  • 31 Cerebellar Injury in the Preterm Infant 314
  • Catherine Limperopoulos
  • Part 7: Vascular Disorders, Tumours, and Paraneoplastic Cerebellar Syndromes 323
  • 32 Vascular Disorders of the Posterior Fossa 325
  • Maja Steinlin
  • 33 Posterior Fossa Tumours 336
  • Michael A. Grotzer
  • 34 Paraneoplastic Cerebellar Syndromes: Neurodegeneration in Langerhans
  • Cell Histiocytosis 351
  • Andrea Poretti, Eugen Boltshauser, and Jeremy D. Schmahmann
  • 35 Paraneoplastic Cerebellar Degeneration in Pediatric Hodgkin Disease 358
  • Eugen Boltshauser and Andrea Poretti
  • Part 8: Acute Ataxia 359
  • Introductory comments 360
  • 36 Acute Ataxia: Epidemiology and Differential Diagnosis 361
  • Peter Baxter
  • 37 Acute Inflammatory Diseases of the Cerebellum 364
  • Marc Tardieu
  • 38 Opsoclonus-Myoclonus Syndrome 371
  • Michael Pike
  • 39 Acute Ataxia: Other Causes 378
  • Peter Baxter
  • Part 9: Extrinsic Insults 385
  • 40 Trauma to the Posterior Fossa 387
  • Daune L. MacGregor
  • 41 Toxic Agents 392
  • Andrea Poretti and Eugen Boltshauser
  • 42 Gluten Ataxia 394
  • Andrea Poretti and Eugen Boltshauser
  • Checklists 397
  • Andrea Poretti and Eugen Boltshauser
  • Table 1. Congenital ataxia 399
  • Table 2. Acute ataxia 401
  • Table 3. Intermittent ataxia 402
  • Table 4. Episodic ataxias 403
  • Table 5. Progressive ataxias 404
  • Table 6. Treatable causes of inherited ataxia 405
  • Table 7. Ataxia and ocular motor apraxia 406
  • Table 8. Ataxia and progressive external ophthalmoplegia 406
  • Table 9. Ataxia and retinopathy 406
  • Table 10. Ataxia and cataract 407
  • Table 11. Ataxia and polyneuropathy 408
  • Table 12. Ataxia and spasticity 408
  • Table 13. Ataxia ‚Äòplus‚Äô (additional suggestive signs or symptoms in selected ataxias) 409
  • Table 14. Cerebellar hypoplasia in childhood 410
  • Table 15. Unilateral cerebellar hypoplasia 412
  • Table 16. Cerebellar atrophy in childhood: a pattern-recognition approach 412
  • Table 17. Acquired cerebellar atrophy in childhood 414
  • Table 18. Unilateral cerebellar atrophy in childhood 414
  • Table 19. Ataxia without cerebellar atrophy in childhood 414
  • Table 20. Cerebellar cortex hyperintensity 415
  • Table 21. Abnormalities of the dentate nuclei 415
  • Table 22. Cerebellar calcifications 416
  • Table 23. Abnormalities of the cerebellar white matter in metabolic and genetic diseases 416
  • Table 24. Small pons 417
  • Table 25. Macrocerebellum 418
  • Table 26. Hemicerebellar megalencephaly 418
  • Table 27. Molar tooth sign 419
  • Table 28. Abnormal tectum 419
  • Table 29. Brainstem clefts 420
  • Index 428
  • Colour platesAuthors‚Äô Appointments ix
  • Foreword xi
  • Preface xii
  • About the Editors xiv
  • Part 1: Cerebellar Development 1
  • 1 Cerebellar Development 3
  • Kathryn E. Waimey, Samin A. Sajan, and Kathleen J. Millen
  • Part 2: Cerebellar Anatomy and Functions 21
  • 2 Essential Anatomy of the Cerebellum and Related Structures 23
  • Patricia L. Musolino, Catherine J. Stoodley, and Jeremy D. Schmahmann
  • 3 Approach to the Neurological Examination of Children with Cerebellar Disorders 45
  • Peter Tsai, Katherine B. Sims, and Jeremy D. Schmahmann
  • 4 Impairments of Cognition and Emotion in Children with Cerebellar Disorders:
  • An Approach to Recognition, Evaluation, and Treatment 58
  • Jeremy D. Schmahmann, Annah N. Abrams, and Janet C. Sherman
  • Part 3: Imaging of the Cerebellum 77
  • 5 Prenatal Cerebellar Imaging 79
  • Daniel A. Doherty and Deborah Levine
  • 6 Neuroimaging of the Posterior Fossa 94
  • Thierry A.G.M. Huisman
  • Part 4: Malformations 113
  • Introductory comments and glossary 114
  • 7 Cerebellar Agenesis 117
  • Andrea Poretti, Eugen Boltshauser, and Jeremy D. Schmahmann
  • 8 Cerebellar Hypoplasia 122
  • Andrea Poretti and Eugen Boltshauser
  • 9 Nonprogressive Congenital Ataxia 135
  • Eugen Boltshauser and Andrea Poretti
  • 10 Dandy-Walker Malformation 140
  • Andrea Poretti, Kathleen J. Millen, and Eugen Boltshauser
  • 11 Joubert Syndrome and Related Disorders 149
  • Enza Maria Valente, Francesco Brancati, and Bruno Dallapiccola
  • 12 Chiari Type I Malformation 158
  • Michael S. Salman
  • 13 Chiari Type II Malformation 164
  • Michael S. Salman
  • 14 Cerebellar Dysplasia 172
  • Andrea Poretti and Eugen Boltshauser
  • 15 Cerebellar Cysts and Neuroimaging in Congenital Muscular Dystrophies 177
  • Andrea Poretti, Andrea Klein, and Eugen Boltshauser
  • 16 Rhombencephalosynapsis and Gv=mez-Lv=pez-Hernv°ndez Syndrome 184
  • Andrea Poretti and Eugen Boltshauser
  • 17 Macrocerebellum 192
  • Andrea Poretti and Eugen Boltshauser
  • 18 Hemicerebellar Megalencephaly 194
  • Andrea Poretti and Eugen Boltshauser
  • 19 Brainstem Disconnection 198
  • Andrea Poretti and Eugen Boltshauser
  • 20 Pontine Tegmental Cap Dysplasia 202
  • Andrea Poretti and Eugen Boltshauser
  • 21 Brainstem Malformations Associated with Cerebellar Abnormalities 208
  • Andrea Poretti and Eugen Boltshauser
  • 22 Posterior Fossa Cysts and Cyst-like Malformations (Blake‚Äôs Pouch Cyst,
  • Arachnoid Cysts, and Mega Cisterna Magna) 212
  • Andrea Poretti, Ianina Scheer, and Eugen Boltshauser
  • Part 5: Genetic and Metabolic Disorders 217
  • 23 Pontocerebellar Hypoplasias 219
  • Peter G. Barth
  • 24 Autosomal Dominant Spinocerebellar Ataxias 228
  • Andrea H. Nemeth
  • 25 X-linked Cerebellar Disorders 241
  • Ginevra Zanni and Enrico Bertini
  • 26 Recessive Ataxias 253
  • Alessandra Terracciano, Ginevra Zanni, and Enrico Bertini
  • 27 Ataxia in Metabolic and White Matter Disorders 269
  • Nicole I. Wolf
  • 28 The Episodic Ataxias 282
  • Tracey D. Graves and Michael G. Hanna
  • 29 Neurocutaneous Syndromes with Cerebellar Involvement 291
  • Thierry A.G.M. Huisman
  • Part 6: Cerebellar Disruptions 303
  • 30 Prenatal Cerebellar Disruptions 305
  • Andrea Poretti and Eugen Boltshauser
  • 31 Cerebellar Injury in the Preterm Infant 314
  • Catherine Limperopoulos
  • Part 7: Vascular Disorders, Tumours, and Paraneoplastic Cerebellar Syndromes 323
  • 32 Vascular Disorders of the Posterior Fossa 325
  • Maja Steinlin
  • 33 Posterior Fossa Tumours 336
  • Michael A. Grotzer
  • 34 Paraneoplastic Cerebellar Syndromes: Neurodegeneration in Langerhans
  • Cell Histiocytosis 351
  • Andrea Poretti, Eugen Boltshauser, and Jeremy D. Schmahmann
  • 35 Paraneoplastic Cerebellar Degeneration in Pediatric Hodgkin Disease 358
  • Eugen Boltshauser and Andrea Poretti
  • Part 8: Acute Ataxia 359
  • Introductory comments 360
  • 36 Acute Ataxia: Epidemiology and Differential Diagnosis 361
  • Peter Baxter
  • 37 Acute Inflammatory Diseases of the Cerebellum 364
  • Marc Tardieu
  • 38 Opsoclonus-Myoclonus Syndrome 371
  • Michael Pike
  • 39 Acute Ataxia: Other Causes 378
  • Peter Baxter
  • Part 9: Extrinsic Insults 385
  • 40 Trauma to the Posterior Fossa 387
  • Daune L. MacGregor
  • 41 Toxic Agents 392
  • Andrea Poretti and Eugen Boltshauser
  • 42 Gluten Ataxia 394
  • Andrea Poretti and Eugen Boltshauser
  • Checklists 397
  • Andrea Poretti and Eugen Boltshauser
  • Table 1. Congenital ataxia 399
  • Table 2. Acute ataxia 401
  • Table 3. Intermittent ataxia 402
  • Table 4. Episodic ataxias 403
  • Table 5. Progressive ataxias 404
  • Table 6. Treatable causes of inherited ataxia 405
  • Table 7. Ataxia and ocular motor apraxia 406
  • Table 8. Ataxia and progressive external ophthalmoplegia 406
  • Table 9. Ataxia and retinopathy 406
  • Table 10. Ataxia and cataract 407
  • Table 11. Ataxia and polyneuropathy 408
  • Table 12. Ataxia and spasticity 408
  • Table 13. Ataxia ‚Äòplus‚Äô (additional suggestive signs or symptoms in selected ataxias) 409
  • Table 14. Cerebellar hypoplasia in childhood 410
  • Table 15. Unilateral cerebellar hypoplasia 412
  • Table 16. Cerebellar atrophy in childhood: a pattern-recognition approach 412
  • Table 17. Acquired cerebellar atrophy in childhood 414
  • Table 18. Unilateral cerebellar atrophy in childhood 414
  • Table 19. Ataxia without cerebellar atrophy in childhood 414
  • Table 20. Cerebellar cortex hyperintensity 415
  • Table 21. Abnormalities of the dentate nuclei 415
  • Table 22. Cerebellar calcifications 416
  • Table 23. Abnormalities of the cerebellar white matter in metabolic and genetic diseases 416
  • Table 24. Small pons 417
  • Table 25. Macrocerebellum 418
  • Table 26. Hemicerebellar megalencephaly 418
  • Table 27. Molar tooth sign 419
  • Table 28. Abnormal tectum 419
  • Table 29. Brainstem clefts 420
  • Index 428
  • Colour plates

'With its exhaustive coverage, the clarity of its presentation and the careful selection of references, this book can certainly be recommended to any clinician or neuroscientist dealing with cerebellar disorders in children. It fully deserves a foreground position in a medical library. The ambitious intent to create a multi-authors, sound and clinically oriented work on cerebellar disorders affecting children is achieved.' M. Manto, Cerebellum, 2012

'Altogether, Cerebellar Disorders in Children is a comprehensive and very readable, modern textbook. Its scientific content is of high quality and well organized. The reader is comfortably guided through a wide variety of genetic as well as acquired cerebellar disorders that manifest during the first 2 decades of human life, including the 9 months before birth. I consider this book a wonderful and unique standard, and look forward to using it during everyday practice in paediatric neurology.' Michel A. Willemsen, Neuropediatrics, 2012

'This textbook is essential for child neurologists. In addition, it is useful and informative for both research scientists and neurologists, who are mainly engaged in clinics for adult patients with cerebellar disorders. This book is also recommended to young medical students because it can evoke their interests in pediatric cerebellar disorders.' Masaharu Hayashi, Brain & Development, 2013

'This book will be extremely useful as a reference tool for clinicians and scientists who deal with childhood cerebellar disorders. This should be on the shelf of (or at least accessible to) every child neurologist.' Vinodh Narayanan, Neurology, 2012

'In this new title from the Mac Keith Press the whole clinical spectrum of the cerebellum is presented: from a patho-physiological and anatomical introduction, to the outstanding (29) checklists for all the clinical problems relating to ataxia and imaging patterns for identifying cerebellar diseases. It is fascinating and stimulating to be guided from one pattern to the other - a clinical and visual eye-opener at its best. Of course, because the cerebellum is connected to almost everything within the brain, some readers would have liked more on ataxic cerebral palsy and other readers other aspects. But this does not detract from this wonderful book as a milestone of understanding and clinical orientation. In these times of Google, Wikipedia and tablet computers, there is definitely a need for owning such a fundamental, in-depth and practical book. This handbook should be seen in every child neurologist's or developmental pediatrician's office.' Florian Heinen, DMCN, 2012