Pediatric Neuro-Ophthalmology (eBook)

Michael C. Brodsky (Autor)

eBook Download: PDF

2010 | 2nd ed. 2010
XVIII, 550 Seiten
Springer New York (Verlag)
978-0-387-69069-8 (ISBN)

Infos

'Due to the generous representation of the afferent visual system within the brain, neurological disease may disrupt vision as a presenting symptom or as a secondary effect of the disease. Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis. The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge. Neurological medications and neurosurgical treatments can produce neuro-ophthalmological dysfunction that can be difficult to distinguish from disease progression. Affected patients may experience substantial delays in diagnosis, and are often subjected to extensive (and expensive) diagnostic testing. Scientific articles pertaining to specific disorders are scattered throughout medical subspecialty journals. These children continue to 'fall through the cracks' of our medical education system. The increasing recognition that pediatric neuro-ophthalmology comprises a distinct set of diseases from those seen in adults has led to its emergence as a dedicated field of study.

'Since the original publication of Pediatric Neuro-Ophthalmology nearly fourteen years ago, interest in the field has burgeoned. Pediatric ophthalmology and pediatric neurology subspecialty conferences often include symposia dedicated to recent advances in pediatric neuro-ophthalmology. Technical advances in neuroimaging have given rise to a more integrated mechanistic classification of neuro-ophthalmological disease in children. Our understanding of neurodevelopmental disorders of the visual system has expanded, longstanding monoliths have been dissembled into component parts, basic molecular mechanisms have taken center stage, and genetic underpinnings have become definitional. Evolutionary alterations can now be observed at the level of the gene, adding a new dimension to our understanding of disease pathogenesis. New classifications now encompass clinically disparate conditions. Descriptive definitions have been supplanted by mechanistic ones, and clinical definitions superseded by genetic ones. Our concept of disease pathogenesis has been revised and in some cases overturned. Bearing witness to these remarkable advancements has compelled me to enhance and expand the first edition of Pediatric Neuro-Ophthalmology into this new and revised one.

'In the first edition of this book, our goal was to present the clinical characteristics, diagnostic evaluation, and therapeutic options for the common neuro-ophthalmologic disorders of childhood. In so doing, we designed the book to be provide a narrative journey through the thought processes involved in the clinical management of these disorders. In this edition, I have retained the basic narrative format of original book, while expanding the exploration of these complex visual disorders in the context of the many new scientific advancements and discoveries that have come to light. These conditions are fun to diagnose, fascinating to understand, and gratifying to manage.' --from the Preface to the 2nd Edition.

---

"e;Due to the generous representation of the afferent visual system within the brain, neurological disease may disrupt vision as a presenting symptom or as a secondary effect of the disease. Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis. The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge. Neurological medications and neurosurgical treatments can produce neuro-ophthalmological dysfunction that can be difficult to distinguish from disease progression. Affected patients may experience substantial delays in diagnosis, and are often subjected to extensive (and expensive) diagnostic testing. Scientific articles pertaining to specific disorders are scattered throughout medical subspecialty journals. These children continue to "e;fall through the cracks"e; of our medical education system. The increasing recognition that pediatric neuro-ophthalmology comprises a distinct set of diseases from those seen in adults has led to its emergence as a dedicated field of study."e;Since the original publication of Pediatric Neuro-Ophthalmology nearly fourteen years ago, interest in the field has burgeoned. Pediatric ophthalmology and pediatric neurology subspecialty conferences often include symposia dedicated to recent advances in pediatric neuro-ophthalmology. Technical advances in neuroimaging have given rise to a more integrated mechanistic classification of neuro-ophthalmological disease in children. Our understanding of neurodevelopmental disorders of the visual system has expanded, longstanding monoliths have been dissembled into component parts, basic molecular mechanisms have taken center stage, and genetic underpinnings have become definitional. Evolutionary alterations can now be observed at the level of the gene, adding a new dimension to our understanding of disease pathogenesis. New classifications now encompass clinically disparate conditions. Descriptive definitions have been supplanted by mechanistic ones, and clinical definitions superseded by genetic ones. Our concept of disease pathogenesis has been revised and in some cases overturned. Bearing witness to these remarkable advancements has compelled me to enhance and expand the first edition of Pediatric Neuro-Ophthalmology into this new and revised one."e;In the first edition of this book, our goal was to present the clinical characteristics, diagnostic evaluation, and therapeutic options for the common neuro-ophthalmologic disorders of childhood. In so doing, we designed the book to be provide a narrative journey through the thought processes involved in the clinical management of these disorders. In this edition, I have retained the basic narrative format of original book, while expanding the exploration of these complex visual disorders in the context of the many new scientific advancements and discoveries that have come to light. These conditions are fun to diagnose, fascinating to understand, and gratifying to manage."e; --from the Preface to the 2nd Edition.

Inhalt

Foreword 6
Preface 7
Contents 8
Chapter 1 16
The Apparently Blind Infant 16
Introduction 16
Hereditary Retinal Disorders 21
Leber Congenital Amaurosis 21
Joubert Syndrome 24
Congenital Stationary Night Blindness 25
Achromatopsia 25
Congenital Optic Nerve Disorders 25
Cortical Visual Insufficiency 26
Causes of Cortical Visual Loss 27
Perinatal Hypoxia-Ischemia 27
Postnatal Hypoxia-Ischemia 28
Cerebral Malformations 28
Head Trauma 29
Twin Pregnancy 31
Metabolic and Neurodegenerative Conditions 31
Meningitis, Encephalitis, and Sepsis 31
Hydrocephalus, Ventricular Shunt Failure 32
Preictal, Ictal, or Postictal Phenomena 33
Associated Neurologic and Systemic Disorders 34
Characteristics of Visual Function 36
Neuro-Ophthalmologic Findings 37
Diagnostic and Prognostic Considerations 40
Role of Visual Attention 42
Neuroimaging Abnormalities and their Implications 42
Subcortical Visual Loss (Periventricular Leukomalacia) 42
Perceptual Difficulties 45
Dorsal and Ventral Stream Dysfunction 46
Pathophysiology 48
Intraventricular Hemorrhage 49
Periventricular and Intraventricular Hemorrhage 49
Hemianopic Visual Field Defects in Children 50
Delayed Visual Maturation 53
Blindsight 56
The Effect of Total Blindness on Circadian Regulation 58
Horizons 60
References 61
Chapter 2 74
Congenital Optic Disc Anomalies 74
Introduction 74
Optic Nerve Hypoplasia 74
Segmental Optic Nerve Hypoplasia 79
Excavated Optic Disc Anomalies 82
Morning Glory Disc Anomaly 82
Optic Disc Coloboma 86
Peripapillary Staphyloma 90
Megalopapilla 90
Optic Pit 91
Papillorenal Syndrome (The Vacant Optic Disc) 93
Congenital Tilted Disc Syndrome 94
Optic Disc Dysplasia 96
Congenital Optic Disc Pigmentation 96
Aicardi Syndrome 98
Doubling of the Optic Disc 100
Optic Nerve Aplasia 101
Myelinated (Medullated) Nerve Fibers 102
The Albinotic Optic Disc 103
References 104
Chapter 3 112
The Swollen Optic Disc in Childhood 112
Introduction 112
Papilledema 113
Idiopathic Intracranial Hypertension (IIH) in Children 116
Pathophysiology 116
Neuroimaging 118
Primary IIH in Children 119
Secondary IIH 119
IIH Secondary to Neurological Disease 119
IIH Secondary to Systemic Disease 121
Malnutrition 121
Severe Anemia 121
Addison Disease 122
Bone Marrow Transplantation 122
Renal Transplantation 122
Down Syndrome 122
Gliomatosis Cerebri 122
Systemic Lupus Erythematosis 122
Sleep Apnea 122
Postinfectious 123
Childhood IIH Associated with Exogenous Agents 123
Atypical IIH 123
Treatment of IIH in Children 124
Prognosis of IIH in Children 124
Optic Disc Swelling Secondary to Neurological Disease 125
Hydrocephalus 125
Neurofibromatosis 125
Spinal Cord Tumors 125
Subacute Sclerosing Panencephalitis 126
Optic Disc Swelling Secondary to Systemic Disease 126
Diabetic Papillopathy 126
Malignant Hypertension 127
Sarcoidosis 127
Leukemia 129
Cyanotic Congenital Heart Disease 131
Craniosynostosis Syndromes 131
Nonaccidental Trauma (Shaken Baby Syndrome) 132
Cysticercosis 133
Mucopolysaccharidosis 134
Infantile Malignant Osteopetrosis 134
Malaria 135
Paraneoplastic 135
Uveitis 135
Blau Syndrome 135
CINCA 136
Kawasaki Disease 136
Poststreptococal Uveitis 136
Intrinsic Optic Disc Tumors 137
Optic Disc Hemangioma 137
Tuberous Sclerosis 137
Optic Disc Glioma 138
Combined Hamartoma of the Retina and RPE 138
Retrobulbar Tumors 138
Optic Neuritis in Children 139
History and Physical Examination 139
Postinfectious Optic Neuritis 139
Acute Disseminated Encephalomyelitis 139
MS and Pediatric Optic Neuritis 140
Devic Disease (Neuromyelitis Optica) 141
Prognosis and Treatment 142
Course of Visual Loss and Visual Recovery 142
Systemic Prognosis 143
Systemic Evaluation of Pediatric Optic Neuritis 143
Treatment 144
Leber Idiopathic Stellate Neuroretinitis 144
Ischemic Optic Neuropathy 147
Autoimmune Optic Neuropathy 148
Pseudopapilledema 148
Optic Disc Drusen 148
Epidemiology 149
Ophthalmoscopic Appearance in Children 149
Distinguishing Buried Disc Drusen from Papilledema 150
Fluorescein Angiographic Appearance 151
Neuroimaging 151
Histopathology 151
Pathogenesis 152
Ocular Complications 152
Systemic Associations 154
Natural History and Prognosis 154
Ocular Disorders Associated with Pseudopapilledema 155
Systemic Disorders Associated with Pseudopapilledema 155
Down Syndrome 155
Alagille Syndrome 155
Kenny Syndrome 157
Leber Hereditary Neuroretinopathy 157
Mucopolysaccharidosis 157
Linear Sebaceous Nevus Syndrome 157
Orbital Hypotelorism 157
References 157
Chapter 4 170
Optic Atrophy in Children 170
Introduction 170
Epidemiology 171
Optic Atrophy Associated with Retinal Disease 174
Congenital Optic Atrophy Vs. Hypoplasia 175
Causes of Optic Atrophy in Children 176
Compressive/Infiltrative Intracranial Lesions 176
Optic Glioma 177
Craniopharyngioma 179
Uncommon Compressive Lesions Causing Optic Atrophy in Children 181
Noncompressive Causes of Optic Atrophy in Children with Brain Tumors 183
Postpapilledema Optic Atrophy 183
Paraneoplastic Syndromes 183
Radiation Optic Neuropathy 184
Hydrocephalus 184
Hereditary Optic Atrophy 184
Dominant Optic Atrophy (Kjer Type) 187
Leber Hereditary Optic Neuropathy 190
Recessive Optic Atrophy 192
X-Linked Optic Atrophy 192
Behr Syndrome 192
Wolfram Syndrome (DIDMOAD) 193
Toxic/Nutritional Optic Neuropathy 194
Neurodegenerative Disorders with Optic Atrophy 195
Krabbe’s Infantile Leukodystrophy 196
Canavan Disease (Spongiform Leukodystrophy) 196
Subacute Necrotizing Encephalomyelopathy (Leigh Disease) 196
Pelizaeus–Merzbacher Disease (Sudanophilic Leukodystrophy) 196
PEHO Syndrome 197
Neonatal Leukodystrophy 197
Metachromatic Leukodystrophy 198
X-Linked Adrenoleukodystrophy (Addison–Schilder Disease) 198
Pantothenate Kinase-Associated Neurodegeneration 198
Neuronal Ceroid Lipofuscinoses (Batten Disease) 199
Familial Dysautonomia (Riley–Day Syndrome) 199
Infantile Neuroaxonal Dystrophy 199
Organic Acidurias 200
Propionic Acidemia 200
Cobalamin C Deficiency with Methylmalonic Acidemia 200
Spinocerebellar Degenerations 200
Hereditary Polyneuropathies 201
Mucopolysaccharidoses 202
Optic Atrophy due to Hypoxia-Ischemia 202
Traumatic Optic Atrophy 203
Vigabatrin 203
Carboplatin 204
Summary of the General Approach to the Child with Optic Atrophy 204
References 205
Chapter 5 227
Transient, Unexplained, and Psychogenic Visual Loss in Children 227
Introduction 227
Transient Visual Loss 228
Migraine 228
Migraine Aura 228
Amaurosis Fugax as a Migraine Equivalent 230
Migraine Versus Retinal Vasospasm 230
Migraine Headache 231
Complicated Migraine 231
Pathophysiology 233
Genetics 235
Sequelae 236
Treatment 236
Epilepsy 237
Epileptiform Visual Symptoms with Seizure Aura 237
Ictal Cortical Blindness 239
Postictal Blindness 239
Distinguishing Epilepsy from Migraine 239
Vigabitrin-Associated Visual Field Loss 241
Posttraumatic Transient Cerebral Blindness 241
Cardiogenic Embolism 241
Nonmigrainous Cerebrovascular Disease 242
Miscellaneous Transient Visual Disturbances in Children 242
Transient Visual Obscurations Associated with Papilledema 242
Anomalous Optic Discs 243
Entoptic Images 243
Media Opacities 244
Retinal Circulation 244
Phosphenes 244
Uhthoff Symptom 244
Alice in Wonderland Syndrome 244
Charles Bonnet Syndrome 244
Lilliputian Hallucinations 245
Palinopsia 245
Peduncular Hallucinosis 245
Hypnagogic Hallucinations 245
Posterior Reversible Encephalopathy Syndrome 245
Neurodegenerative Disease 246
Multiple Sclerosis 246
Schizophrenia 246
Hallucinogenic Drug Use 246
Cannabinoid Use 247
Toxic and Nontoxic Drug Effects 247
Antimetabolites and Cancer Therapy 247
Digitalis 247
Erythropoietin 247
Atropine (Anticholinergic Drugs) 247
Carbon Monoxide 248
Summary of Clinical Approach to the Child with Transient Visual Disturbances 248
Laboratory Evaluation of Transient Visual Disturbances in Children 249
Unexplained Visual Loss in Children 249
Causes of Unexplained Visual Loss in Childhood 249
Transient Amblyogenic Factors 249
Refractive Abnormalities 250
Cornea 250
Retina 250
Optic Nerve 251
Central Nervous System 252
Psychogenic Visual Loss in Children 253
Clinical Profile 253
Neuro-Ophthalmologic Findings 254
Categories of Psychogenic Visual Loss in Children 255
Group 1: The Visually Preoccupied Child 255
Group 2: Conversion Disorder 256
Group 3: Possible Factitious Disorder 256
Group 4: Psychogenic Visual Loss Superimposed on True Organic Disease 256
Management of Psychogenic Visual Loss in Children 256
Interview with the Parents 256
Interview with the Child 257
When to Refer Children with Psychogenic Visual Loss for Psychiatric Treatment 257
Horizons 258
References 258
Chapter 6 267
Ocular Motor Nerve Palsies in Children 267
Introduction 267
Oculomotor Nerve Palsy 270
Clinical Anatomy 270
Nucleus 270
Fascicle 270
Clinical Features 271
Isolated Inferior Rectus Muscle Palsy 271
Isolated Inferior Oblique Muscle Palsy 272
Isolated Internal Ophthalmoplegia 274
Isolated Divisional Oculomotor Palsy 274
Oculomotor Synkinesis 274
Etiology 275
Congenital Third Nerve Palsy 275
Congenital Third Nerve Palsy with Cyclic Spasm 277
Traumatic Third Nerve Palsy 277
Meningitis 278
Ophthalmoplegic Migraine 278
Recurrent Isolated Third Nerve Palsy 280
Cryptogenic Third Nerve Palsy in Children 280
Vascular Third Nerve Palsy in Children 280
Inflammatory Causes of Third Nerve Palsies in Children 281
Neoplastic Causes of Third Nerve Palsy in Children 281
Postviral Third Nerve Palsy 281
Other Rare Causes of Third Nerve Palsy in Children 281
Differential Diagnosis 281
Management 282
Amblyopia 282
Ocular Alignment 283
Ptosis 284
Trochlear Nerve Palsy 284
Clinical Anatomy 284
Clinical Features 285
Head Posture 285
Three-Step Test 286
Bilateral Trochlear Nerve Palsy 287
Etiology 288
Traumatic Trochlear Nerve Palsy 289
Congenital Trochlear Nerve Palsy 289
Large Vertical Fusional Vergence Amplitudes 289
Facial Asymmetry 289
Synostotic Plagiocephaly 291
Hydrocephalus 291
Idiopathic 291
Compressive Lesions 291
Rare Causes of Trochlear Nerve Palsy 292
Differential Diagnosis 292
Treatment 293
Abducens Nerve Palsy 295
Clinical Anatomy 295
Clinical Features 295
Causes of Sixth Nerve Palsy 296
Congenital Sixth Nerve Palsy 297
Traumatic Sixth Nerve Palsy 297
Benign Recurrent Sixth Nerve Palsy 297
Pontine Glioma 298
Elevated Intracranial Pressure 298
Infectious Sixth Nerve Palsy 298
Inflammatory Sixth Nerve Palsy 299
Rare Causes of Sixth Nerve Palsy 299
Differential Diagnosis 299
Duane Retraction Syndrome 299
Genetics 300
Other Clinical Features of Duane Syndrome 300
Upshoots and Downshoots 300
Y or l Pattern 301
Synergistic Divergence 302
Rare Variants 303
Systemic Associations 304
Etiology of Duane Syndrome 304
Classification of Duane Syndrome on the Basis of Range of Movement 304
Embryogenesis 305
Surgical Treatment of Duane Syndrome 306
Esotropia in Duane Syndrome 306
Duane Syndrome with Exotropia 307
Bilateral Duane Syndrome 307
Management of Sixth Nerve Palsy 307
Multiple Cranial Nerve Palsies in Children 308
Horizons 309
References 309
Chapter 7 323
Complex Ocular Motor Disorders in Children 323
Introduction 323
Strabismus in Children with Neurological Dysfunction 323
Visuovestibular Disorders 325
Neurologic Esotropia 327
Spasm of the Near Reflex 328
Exercise-Induced Diplopia 328
Neurologic Exotropia 329
Convergence Insufficiency 329
Skew Deviation 330
Gaze Palsies, Gaze Deviations, and Ophthalmoplegia 332
Horizontal Gaze Palsy in Children 332
Congenital Ocular Motor Apraxia 333
Vertical Gaze Palsies in Children 337
Downgaze Palsy in Children 338
Upgaze Palsy in Children 339
Diffuse Ophthalmoplegia in Children 340
Chronic Progressive External Ophthalmoplegia 340
Myasthenia Gravis 342
Transient Neonatal Myasthenia 342
Congenital Myasthenic Syndromes 343
Juvenile Myasthenia 345
Olivopontocerebellar Atrophy 349
Botulism 350
Fisher Syndrome: A Variant of Guillain–Barré Syndrome 351
Bickerstaff Brainstem Encephalitis 352
Tick Paralysis 352
Wernicke Encephalopathy 352
Miscellaneous Causes of Ophthalmoplegia 352
Transient Ocular Motor Disturbances of Infancy 353
Transient Neonatal Strabismus 353
Transient Idiopathic Nystagmus 353
Tonic Downgaze 353
Tonic Upgaze 355
Neonatal Opsoclonus 356
Transient Vertical Strabismus in Infancy 356
Congenital Cranial Dysinnervation Syndromes 356
Congenital Ptosis 357
Marcus Gunn Jaw Winking (Trigemino-Oculomotor Synkinesis) 357
Congenital Fibrosis Syndrome 358
Congenital Horizontal Gaze Palsy with Scoliosis 360
Möbius Sequence 361
Monocular Elevation Deficiency, or “Double Elevator Palsy” 362
Brown Syndrome 364
Other Pathologic Synkineses 365
Internuclear Ophthalmoplegia 366
Cyclic, Periodic, or Aperiodic Disorders Affecting Ocular Structures 367
Ocular Neuromyotonia 370
Ocular Motor Adaptations and Disorders in Patients with Hemispheric Abnormalities 370
Eye Movement Tics 371
Eyelid Abnormalities in Children 371
Congenital Ptosis 371
Excessive Blinking in Children 372
Hemifacial Spasm 374
Eyelid Retraction 374
Apraxia of Eyelid Opening 376
Pupillary Abnormalities 376
Congenital Bilateral Mydriasis 376
Accommodative Paresis 376
Adie Syndrome 376
Horner Syndrome 378
References 380
Chapter 8 397
Nystagmus in Children 397
Introduction 397
Infantile Nystagmus 398
Clinical Features 398
Onset of Infantile Nystagmus 399
Terminology 399
History and Physical Examination 400
Relevant History 400
Physical Examination 400
ERG 402
Hemispheric Visual Evoked Potentials 402
Overlap of Infantile Nystagmus and Strabismus 403
Eye Movement Recordings in Infantile Nystagmus 403
Immature Infantile Nystagmus Waveforms 403
Mature Infantile Nystagmus Waveforms 403
Fixation in Infantile Nystagmus 403
Smooth Pursuit System in Infantile Nystagmus 404
Vestibulo-ocular Reflex in Infantile Nystagmus 405
Saccadic System in Infantile Nystagmus 406
Suppression of Oscillopsia in Infantile Nystagmus 406
Summary of Ocular Stabilization Systems in Infantile Nystagmus 406
Visual Disorders Precipitating Infantile Nystagmus 408
Albinism 408
Achiasmia 412
Isolated Foveal Hypoplasia 414
Congenital Retinal Dystrophies 414
Cone and Cone-Rod Dystrophies 414
Achromatopsia 414
Blue Cone Monochromatism 415
Leber Congenital Amaurosis 416
Alström Syndrome 416
Rod-Cone Dystrophies 416
Congenital Stationary Night Blindness 416
Medical Treatment 419
Optical Treatment 419
Surgical Treatment 419
Surgery to Improve Torticollis 419
Surgery to Improve Vision 422
Tenotomy with Reattachment 422
Four Muscle Recession 423
Artificial Divergence Surgery 423
When to Obtain Neuroimaging Studies in Children with Nystagmus 418
Treatment 419
Spasmus Nutans 424
Russell Diencephalic Syndrome of Infancy 426
Monocular Nystagmus 427
Nystagmus Associated with Infantile Esotropia 427
Torsional Nystagmus 427
Horizontal Nystagmus 428
Latent Nystagmus 428
Treatment of Manifest Latent Nystagmus 430
Nystagmus Blockage Syndrome 431
Treatment of Nystagmus Blockage Syndrome 431
Vertical Nystagmus 431
Upbeating Nystagmus in Infancy 431
Congenital Downbeat Nystagmus 432
Hereditary Vertical Nystagmus 433
Periodic Alternating Nystagmus 433
Seesaw Nystagmus 434
Congenital versus Acquired Seesaw Nystagmus 434
Saccadic Oscillations that Simulate Nystagmus 435
Convergence-Retraction Nystagmus 435
Opsoclonus and Ocular Flutter 435
Causes of Opsoclonus 435
Kinsbourne Encephalitis 436
Miscellaneous Causes 437
Pathophysiology 437
Voluntary Nystagmus 437
Ocular Bobbing 438
Neurological Nystagmus 438
Leigh Subacute Necrotizing Encephalomyelopathy 439
Pelizaeus-Merzbacher Disease 439
Joubert Syndrome 439
Santavuori-Haltia Disease 440
Infantile Neuroaxonal Dystrophy 440
Carbohydrate-Deficient Glycoprotein Syndromes 440
Down Syndrome 440
Hypothyroidism 440
Maple Syrup Urine Disease 440
Nutritional Nystagmus 441
Epileptic Nystagmus 441
Cobalamin C Methylmalonic Aciduria and Homocystinuria 441
Summary 441
References 443
Chapter 9 456
Torticollis and Head Oscillations 456
Introduction 456
Torticollis 456
Ocular Torticollis 457
Head Tilts 458
Incomitant Strabismus 458
Synostotic Plagiocephaly 459
Spasmus Nutans 460
Infantile Nystagmus 460
Benign Paroxysmal Torticollis of Infancy 460
Dissociated Vertical Divergence 461
Ocular Tilt Reaction 462
Photophobia, Epiphora, and Torticollis 462
Down Syndrome 463
Spasmodic Torticollis 463
Head Turns 463
Seizures 465
Cortical Visual Insufficiency 465
Congenital Ocular Motor Apraxia 465
Vertical Head Positions 465
Refractive Causes of Torticollis 466
Neuromuscular Causes of Torticollis 466
Congenital Muscular Torticollis 466
Systemic Causes of Torticollis 468
Head Oscillations 468
Head Nodding with Nystagmus 468
Spasmus Nutans 469
Infantile Nystagmus 469
Neurodegenerative Disorders, Metabolic Defects, and Genetic Syndromes 470
Head Nodding without Nystagmus 470
Bobble-Headed Doll Syndrome 470
Cerebellar Disease 471
Benign Essential Tremor 471
Paroxysmal Dystonic Head Tremor 471
Autism 471
Infantile Spasms 471
Congenital Ocular Motor Apraxia 472
Opsoclonus/Myoclonus 472
Visual Disorders 472
Blindness 472
Intermittent Esotropia 472
Otological Abnormalities 472
Labyrinthine Fistula 472
Systemic Disorders 472
Aortic Regurgitation 472
Endocrine and Metabolic Disturbances 473
Nasopharyngeal Disorders 473
Organic Acidurias 473
References 473
Chapter 10 478
Neuro-Ophthalmologic Manifestations of Neurodegenerative Disease in Childhood 478
Introduction 478
Neuronal Disease 480
Neuronal Ceroid Lipofuscinosis 480
Infantile NCL (Santavuori-Haltia Disease) 482
Late Infantile (Jansky–Bielschowsky Disease) 482
Juvenile NCL (Batten Disease) 482
Lysosomal Diseases 483
Gangliosidoses 483
GM2 Type I (Tay–Sachs Disease) 484
GM2 Type II (Sandhoff Disease) 485
GM2 Type III 485
Niemann–Pick Disease 485
Gaucher Disease 486
Mucopolysaccharidoses 487
MPS1H (Hurler Syndrome) 487
MPS1S (Scheie Syndrome) 488
MPS2 (Hunter Syndrome) 488
MPS3 (Sanfilippo Syndrome) 488
MPS4 (Morquio Syndrome) 488
MPS6 (Maroteaux–Lamy Syndrome) 489
MPS7 (Sls Syndrome) 489
Sialidosis 489
Subacute Sclerosing Panencephalitis 489
White Matter Disorders 490
Metachromatic Leukodystrophy 491
Canavan Disease (Spongy Degeneration of Cerebral White Matter) 491
Krabbe Disease 492
Pelizaeus–Merzbacher Disease 492
Cockayne Syndrome 493
Alexander Disease 494
Sjögren–Larsson Syndrome 494
Cerebrotendinous Xanthomatosis 495
Peroxisomal Disorders 495
Zellweger Syndrome 496
Adrenoleukodystrophy 496
Basal Ganglia Disease 498
Pantothenate Kinase-Associated Neurodegeneration 498
Wilson Disease 499
Aminoacidopathies and Other Biochemical Defects 499
Maple Syrup Urine Disease 499
Homocystinuria 500
Abetalipoproteinemia 500
Mitochondrial Encephalomyelopathies 501
Chronic Progressive External Ophthalmoplegia (CPEO) 502
Leigh Subacute Necrotizing Encephalomyelopathy 503
Mitochondrial Encephalomyelopathy and Stroke-Like Episodes (MELAS) 505
Myoclonic Epilepsy and Ragged Red Fibers (MERRF) 505
Mitochondrial Depletion Syndrome 505
Congenital Disorders of Glycosylation 506
Horizons 506
References 507
Chapter 11 515
Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease 515
Introduction 515
The Phakomatoses 515
Neurofibromatosis (NF1) 515
Neurofibromatosis 2 (NF2) 522
Tuberous Sclerosis 525
Sturge–Weber Syndrome 529
von Hippel–Lindau Disease 531
Ataxia Telangiectasia 533
Linear Nevus Sebaceous Syndrome 535
Klippel–Trenauney–Weber Syndrome 535
Brain Tumors 537
Suprasellar Tumors 539
Pituitary Adenomas 540
Rathke Cleft Cysts 540
Arachnoid Cysts 540
Cavernous Sinus Lesions 540
Hemispheric Tumors 541
Hemispheric Astrocytomas 541
Gangliogliomas and Ganglioneuromas 541
Supratentorial Ependymomas 541
Primitive Neuroectodermal Tumors 541
Posterior Fossa Tumors 542
Medulloblastoma 542
Cerebellar Astrocytoma 543
Ependymoma 544
Brainstem Tumors 545
Tumors of the Pineal Region 548
Meningiomas 549
Epidermoids and Dermoids 549
Gliomatosis Cerebri 550
Metastasis 550
Complications of Treatment of Intracranial Tumors in Children 550
Hydrocephalus 551
Hydrocephalus due to CSF Overproduction 552
Noncommunicating Hydrocephalus 552
Communicating Hydrocephalus 552
Common Causes of Hydrocephalus in Children 553
Aqueductal Stenosis 553
Tumors 553
Intracranial Hemorrhage 554
Intracranial Infections 555
Chiari Malformations 555
Chiari I 555
Chiari II 557
Chiari III 559
The Dandy–Walker Malformation 559
Congenital, Genetic, and Sporadic Disorders 560
Clinical Features of Hydrocephalus 560
Ocular Motility Disorders in Hydrocephalus 561
Dorsal Midbrain Syndrome 562
Visual Loss in Hydrocephalus 563
Effects and Complications of Treatment 563
Vascular Lesions 565
AVMs 565
Clinical Features of AVMs in Children 566
Natural History 566
Treatment 566
Cavernous Angiomas 568
Intracranial Aneurysms 568
Isolated Venous Ectasia 569
Craniocervical Arterial Dissection 569
Strokes in Children 569
Cerebral Venous Thrombosis 570
Cerebral Dysgenesis and Intracranial Malformations 571
Destructive Brain Lesions 572
Porencephaly 572
Hydranencephaly 572
Encephalomalacia 572
Colpocephaly 573
Malformations Due to Abnormal Stem Cell Proliferation or Apoptosis 574
Schizencephaly 574
Hemimegalencephaly 574
Malformations Due to Abnormal Neuronal Migration 576
Lissencephaly 576
Gray Matter Heterotopia 577
Malformations Secondary to Abnormal Cortical Organization and Late Migration 577
Polymicrogyria 577
Holoprosencephaly 578
Absence of the Septum Pellucidum 579
Hypoplasia, Agenesis, or Partial Agenesis of the Corpus Callosum 579
Focal Cortical Dysplasia 579
Anomalies of the Hypothalamic–Pituitary Axis 580
Posterior Pituitary Ectopia 580
Empty Sella Syndrome 580
Encephaloceles 580
Transsphenoidal Encephalocele 581
Orbital Encephalocele 581
Occipital Encephalocele 581
Cerebellar Malformations 581
Molar Tooth Malformation 583
Rhombencephalosynapsis 583
Lhermitte–Duclos Disease 584
Miscellaneous 584
Congenital Corneal Anesthesia 584
Reversible Posterior Leukoencephalopathy 584
Cerebroretinal Vasculopathies 585
Syndromes with Neuro-Ophthalmologic Overlap 585
Proteus Syndrome 585
PHACE Syndrome 585
Goldenhar Syndrome (Oculoauriculovertebral Dysplasia) 585
Delleman (Oculocerebrocutaneous) Syndrome 586
Encephalocraniocutaneous Lipomatosis 586
Incontinentia Pigmenti (Bloch–Sulzberger Syndrome) 586
References 588
Index 609

Produkt-Details

• Erscheint lt. Verlag: 23.3.2010
• Zusatzinfo: XVIII, 550 p. 370 illus., 185 illus. in color.
• Verlagsort: New York
• Sprache: englisch
• Themenwelt: Mathematik / Informatik ► Informatik
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Augenheilkunde
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
• Themenwelt: Naturwissenschaften ► Physik / Astronomie ► Astronomie / Astrophysik
• Themenwelt: Technik
• Schlagworte: Neurology • neuro-ophthalmology • Ophthalmology • Pediatrics • Strabismus
• ISBN-10: 0-387-69069-7 / 0387690697
• ISBN-13: 978-0-387-69069-8 / 9780387690698