Cerebellar Disorders in Children

In this chapter we present an overview of the anatomic features of the cerebellum and interconnected regions essential to the understanding of the clinical manifestations of cerebellar lesions described in this volume. We emphasize organizational principles that help conceptualize the relationship of cerebellar structure to function, both in its traditional role of motor control as well as in nonmotor function.

Please note that Chapters 2, 3 and 4 are also available in Part 2: Cerebellar Anatomy and Functions.

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

Patricia L. Musolino, Catherine J. Stoodley, and Jeremy D. Schmahmann (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 (BlakeÄôs 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 ÄòplusÄô (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 platesAuthorsÄô 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 (BlakeÄôs 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 ÄòplusÄô (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