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Pediatric Neuro-Ophthalmology

Second Edition

Michael C. Brodsky

Pediatric

Neuro-Ophthalmology

Second Edition

Michael C. Brodsky, M.D.

Professor of Ophthalmology and Neurology

Mayo Clinic

Rochester, Minnesota

USA

ISBN 978-0-387-69066-7 e-ISBN 978-0-387-69069-8

DOI 10.1007/978-0-387-69069-8

Springer New York Dordrecht Heidelberg London

Library of Congress Control Number: 2010922363

All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connec-tion with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden.

The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified

as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with re-spect to the material contained herein.

Printed on acid-free paper

Springer is part of Springer Science+Business Media (www.springer.com)

To the good angels in my life, past and present, who lifted me on their wings and carried me through the storms.

Foreword

The first edition of Pediatric Neuro-Ophthalmology, published in 1995, filled an important gap in the disciplines of pediatric ophthalmology, neuro-ophthalmology, and pediatric neurology. It was written in a clear and concise style, which made the volume valuable to the general ophthalmologist seeing children and the pediatric specialists. The book’s large audience, combined with its readability and inclusive contents, combined to make Pediatric NeuroOphthalmology such a success in its genre.

Almost 15 years have elapsed since the initial publication, and the growth of the body of knowledge of the developing visual system, sensory and motor, as well as the diseases associated with that sweeping cascade of events, is little short of astonishing. Hence, the need at this juncture for a revised second edition. This new edition is by no means a cursory glance backward at the published literature, as so many second editions of large, multi-authored books can be, but, rather, an in depth, concentrated and critical look at publications since. The author has fitted in the new pieces to update the text, photographs, and references where indicated. This new edition broadens our understanding not only on a phenomenological level but also by adding molecular and genetic mechanisms, insights from population genetics, epidemiology, and advances in other fields far from its domain it burnishes the insight and understanding of the reader.

Pediatric Neuro-Ophthalmology very much bear the unique touch of its author. A glance at chapter one, “The Apparently Blind Infant,” will clarify what I mean. The chapter is nearly twice as long, with greatly expanded references. Most importantly, this growth is packed with important new insights without slighting the older but still valid and important observations from the past. For example, the discovery of melanopsin, a bistable visual protein found not in rods or cones but in ganglion cells of the retina, is now known to contribute to our normal pupillary reaction to light. Its probable role in the peculiar paradoxical constriction to darkness is both noted and the connection made to congenital stationary night blindness and achromatopsia, along with other visual system conditions where pupil anomalies are found. These are the types of insights that make this book a delight for the novice as well as for the clinician experienced in the field.

In closing, I can but reprise my words from the first edition. “I see it as my responsibility to put this work in perspective for the reader- to-be”—be he novice or specialist, he or she will be rewarded with a truly unique text. “It is both a joy and privilege to write the Foreword again. I have learned immensely from the task.”

John T. Flynn, MD

Bolton Landing, Lake George, NY

vii

Preface

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 14 years ago, interest in the field has burgeoned. Pediatric ophthalmology and pediatric neurology subspecialty conferences often include symposia dedicated to recent advances in pediatric neuroophthalmology. 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 impelled 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 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 the 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.

Although my two excellent coauthors have graciously bowed out of rewriting this edition, their formidable contributions to the first edition provide the bedrock of this book, and my gratitude to them is inestimable. Without them, this book would not exist. My hope is that the second edition will serve as a useful resource to ophthalmologists, neurologists, neurosurgeons, and pediatricians; and that it will spur more research into the basic mechanisms of these disorders.

Michael C. Brodsky, MD

Rochester, MN

1 The Apparently Blind Infant.....................................................................................	1
Introduction.................................................................................................................	1
Hereditary Retinal Disorders.......................................................................................	6
Leber Congenital Amaurosis..................................................................................	6
Joubert Syndrome...................................................................................................	9
Congenital Stationary Night Blindness..................................................................	10
Achromatopsia........................................................................................................	10
Congenital Optic Nerve Disorders..............................................................................	10
Cortical Visual Insufficiency.......................................................................................	11
Causes of Cortical Visual Loss...............................................................................	12
Associated Neurologic and Systemic Disorders.....................................................	19
Characteristics of Visual Function..........................................................................	21
Neuro-Ophthalmologic Findings............................................................................	22
Diagnostic and Prognostic Considerations.............................................................	25
Role of Visual Attention.........................................................................................	27
Subcortical Visual Loss (or Periventricular Leukomalacia)........................................	27
Neuroimaging Abnormalities and their Implications.............................................	27
Neuro-Ophthalmologic Findings............................................................................	28
Perceptual Difficulties............................................................................................	30
Dorsal and Ventral Stream Dysfunction.................................................................	31
Pathophysiology.....................................................................................................	33
Intraventricular Hemorrhage.......................................................................................	34
Periventricular and Intraventricular Hemorrhage...................................................	34
Hemianopic Visual Field Defects in Children.............................................................	35
Delayed Visual Maturation..........................................................................................	38
Blindsight....................................................................................................................	41
The Effect of Total Blindness on Circadian Regulation..............................................	43
Horizons......................................................................................................................	45
References...................................................................................................................	46
2 Congenital Optic Disc Anomalies..............................................................................	59
Introduction.................................................................................................................	59
Optic Nerve Hypoplasia..............................................................................................	59
Excavated Optic Disc Anomalies................................................................................	67
Morning Glory Disc Anomaly................................................................................	67
Optic Disc Coloboma.............................................................................................	71
Peripapillary Staphyloma.......................................................................................	75
Megalopapilla.........................................................................................................	75
Optic Pit..................................................................................................................	76
Papillorenal Syndrome (The Vacant Optic Disc)...................................................	78

xii	Contents
Congenital Tilted Disc Syndrome...............................................................................	79
Optic Disc Dysplasia...................................................................................................	81
Congenital Optic Disc Pigmentation...........................................................................	81
Aicardi Syndrome........................................................................................................	83
Doubling of the Optic Disc..........................................................................................	85
Optic Nerve Aplasia....................................................................................................	86
Myelinated (Medullated) Nerve Fibers.......................................................................	87
The Albinotic Optic Disc.............................................................................................	88
References...................................................................................................................	89
3 The Swollen Optic Disc in Childhood.......................................................................	97
Introduction.................................................................................................................	97
Papilledema.................................................................................................................	98
Idiopathic Intracranial Hypertension (IIH) in Children.........................................	101
Optic Disc Swelling Secondary to Neurological Disease......................................	110
Optic Disc Swelling Secondary to Systemic Disease.............................................	111
Uveitis.....................................................................................................................	120
Posttraumatic Optic Disc Swelling..............................................................................	121
Intrinsic Optic Disc Tumors........................................................................................	122
Optic Disc Hemangioma........................................................................................	122
Tuberous Sclerosis..................................................................................................	122
Optic Disc Glioma..................................................................................................	123
Combined Hamartoma of the Retina and RPE.......................................................	123
Retrobulbar Tumors.....................................................................................................	123
Optic Neuritis in Children...........................................................................................	124
History and Physical Examination.........................................................................	124
Postinfectious Optic Neuritis..................................................................................	124
Acute Disseminated Encephalomyelitis.................................................................	124
MS and Pediatric Optic Neuritis.............................................................................	125
Devic Disease (Neuromyelitis Optica)...................................................................	126
Prognosis and Treatment........................................................................................	127
Course of Visual Loss and Visual Recovery...........................................................	127
Systemic Prognosis.................................................................................................	128
Systemic Evaluation of Pediatric Optic Neuritis....................................................	128
Treatment................................................................................................................	129
Leber Idiopathic Stellate Neuroretinitis.................................................................	129
Ischemic Optic Neuropathy.........................................................................................	132
Autoimmune Optic Neuropathy..................................................................................	133
Pseudopapilledema......................................................................................................	133
Optic Disc Drusen..................................................................................................	133
Ocular Disorders Associated with Pseudopapilledema..........................................	140
Systemic Disorders Associated with Pseudopapilledema......................................	140
References....................................................................................................................	142
4 Optic Atrophy in Children.........................................................................................	155
Introduction.................................................................................................................	155
Epidemiology..............................................................................................................	156
Optic Atrophy Associated with Retinal Disease.........................................................	159
Congenital Optic Atrophy Vs. Hypoplasia..................................................................	160
Causes of Optic Atrophy in Children..........................................................................	161
Compressive/Infiltrative Intracranial Lesions.........................................................	161
Noncompressive Causes of Optic Atrophy in Children with Brain Tumors..........	168
Hereditary Optic Atrophy.......................................................................................	169

Contents	xiii
Dominant Optic Atrophy (Kjer Type)....................................................................	172
Leber Hereditary Optic Neuropathy.......................................................................	175
Recessive Optic Atrophhy......................................................................................	177
Behr Syndrome.......................................................................................................	177
Wolfram Syndrome (DIDMOAD)..........................................................................	178
Toxic/Nutritional Optic Neuropathy............................................................................	179
Neurodegenerative Disorders with Optic Atrophy......................................................	180
Organic Acidurias..................................................................................................	185
Optic Atrophy due to Hypoxia-Ischemia.....................................................................	187
Traumatic Optic Atrophy.............................................................................................	188
Miscellaneous Causes .................................................................................................	188
Summary of the General Approach to the Child with Optic Atrophy.........................	189
References...................................................................................................................	190
5 Transient, Unexplained, and Psychogenic Visual Loss in Children.......................	213
Introduction.................................................................................................................	213
Transient Visual Loss..................................................................................................	214
Migraine.................................................................................................................	214
Epilepsy..................................................................................................................	223
Posttraumatic Transient Cerebral Blindness...........................................................	227
Cardiogenic Embolism...........................................................................................	227
Nonmigrainous Cerebrovascular Disease...............................................................	228
Miscellaneous Transient Visual Disturbances in Children.....................................	228
Toxic and Nontoxic Drug Effects...........................................................................	233
Summary of Clinical Approach to the Child with Transient Visual Disturbances.....	234
Laboratory Evaluation of Transient Visual Disturbances in Children....................	235
Unexplained Visual Loss in Children..........................................................................	235
Causes of Unexplained Visual Loss in Childhood.................................................	235
Psychogenic Visual Loss in Children..........................................................................	239
Clinical Profile........................................................................................................	239
Neuro-Ophthalmologic Findings............................................................................	240
Categories of Psychogenic Visual Loss in Children...............................................	241
Management of Psychogenic Visual Loss in Children...........................................	242
Horizons......................................................................................................................	244
References...................................................................................................................	244
6 Ocular Motor Nerve Palsies in Children..................................................................	253
Introduction.................................................................................................................	253
Oculomotor Nerve Palsy..............................................................................................	256
Clinical Anatomy....................................................................................................	256
Clinical Features.....................................................................................................	257
Partial Forms of Oculomotor Palsy........................................................................	257
Oculomotor Synkinesis..........................................................................................	260
Etiology..................................................................................................................	261
Vascular Third Nerve Palsy in Children.................................................................	266
Differential Diagnosis.............................................................................................	267
Management...........................................................................................................	268
Trochlear Nerve Palsy.................................................................................................	270
Clinical Anatomy....................................................................................................	270
Clinical Features.....................................................................................................	271
Bilateral Trochlear Nerve Palsy..............................................................................	273
Etiology..................................................................................................................	274
Differential Diagnosis.............................................................................................	278

xiv	Contents
Treatment................................................................................................................	279
Abducens Nerve Palsy.................................................................................................	281
Clinical Anatomy....................................................................................................	281
Clinical Features.....................................................................................................	281
Causes of Sixth Nerve Palsy...................................................................................	282
Differential Diagnosis.............................................................................................	285
Duane Retraction Syndrome...................................................................................	285
Management of Sixth Nerve Palsy.........................................................................	293
Multiple Cranial Nerve Palsies in Children.................................................................	294
Horizons......................................................................................................................	295
References...................................................................................................................	295
7 Complex Ocular Motor Disorders in Children........................................................	309
Introduction.................................................................................................................	309
Strabismus in Children with Neurological Dysfunction.............................................	309
Visuovestibular Disorders.......................................................................................	311
Neurologic Esotropia..............................................................................................	313
Neurologic Exotropia.............................................................................................	315
Skew Deviation.......................................................................................................	316
Gaze Palsies, Gaze Deviations, and Ophthalmoplegia................................................	318
Horizontal Gaze Palsy in Children.........................................................................	318
Congenital Ocular Motor Apraxia..........................................................................	319
Vertical Gaze Palsies in Children...........................................................................	323
Diffuse Ophthalmoplegia in Children.........................................................................	326
Chronic Progressive External Ophthalmoplegia....................................................	326
Myasthenia Gravis..................................................................................................	328
Olivopontocerebellar Atrophy.....................................................................................	335
Botulism.................................................................................................................	336
Fisher Syndrome: A Variant of Guillain–Barré Syndrome....................................	337
Bickerstaff Brainstem Encephalitis........................................................................	338
Tick Paralysis..........................................................................................................	338
Wernicke Encephalopathy......................................................................................	338
Miscellaneous Causes of Ophthalmoplegia............................................................	338
Transient Ocular Motor Disturbances of Infancy........................................................	339
Transient Neonatal Strabismus...............................................................................	339
Transient Idiopathic Nystagmus.............................................................................	339
Tonic Downgaze.....................................................................................................	339
Tonic Upgaze..........................................................................................................	341
Neonatal Opsoclonus..............................................................................................	342
Transient Vertical Strabismus in Infancy................................................................	342
Congenital Cranial Dysinnervation Syndromes..........................................................	342
Congenital Ptosis....................................................................................................	343
Marcus Gunn Jaw Winking (Trigemino-Oculomotor Synkinesis).........................	343
Congenital Fibrosis Syndrome...............................................................................	344
Congenital Horizontal Gaze Palsy with Scoliosis..................................................	346
Möbius Sequence....................................................................................................	347
Monocular Elevation Deficiency, or “Double Elevator Palsy”...............................	348
Brown Syndrome....................................................................................................	350
Other Pathologic Synkineses.......................................................................................	351
Internuclear Ophthalmoplegia.....................................................................................	352
Cyclic, Periodic, or Aperiodic Disorders Affecting Ocular Structures.......................	353
Ocular Neuromyotonia................................................................................................	356

Contents	xv
Ocular Motor Adaptations and Disorders in Patients with
Hemispheric Abnormalities..............................................................................	356
Eye Movement Tics.....................................................................................................	357
Eyelid Abnormalities in Children................................................................................	357
Congenital Ptosis....................................................................................................	357
Excessive Blinking in Children..............................................................................	358
Hemifacial Spasm...................................................................................................	360
Eyelid Retraction....................................................................................................	360
Apraxia of Eyelid Opening.....................................................................................	362
Pupillary Abnormalities ..............................................................................................	362
Congenital Bilateral Mydriasis...............................................................................	362
Accommodative Paresis..........................................................................................	362
Adie Syndrome.......................................................................................................	362
Horner Syndrome...................................................................................................	364
References...................................................................................................................	366
8 Nystagmus in Children...............................................................................................	383
Introduction.................................................................................................................	383
Infantile Nystagmus.....................................................................................................	384
Clinical Features.....................................................................................................	384
Onset of Infantile Nystagmus.................................................................................	385
Terminology............................................................................................................	385
History and Physical Examination.........................................................................	386
ERG........................................................................................................................	388
Hemispheric Visual Evoked Potentials...................................................................	388
Overlap of Infantile Nystagmus and Strabismus....................................................	389
Eye Movement Recordings in Infantile Nystagmus...............................................	389
Contrast Sensitivity and Pattern Detection Thresholds
in Infantile Nystagmus.......................................................................................	393
Theories of Causation.............................................................................................	393
Visual Disorders Precipitating Infantile Nystagmus..............................................	394
When to Obtain Neuroimaging Studies in Children with Nystagmus...................	404
Treatment................................................................................................................	405
Spasmus Nutans...........................................................................................................	410
Russell Diencephalic Syndrome of Infancy...........................................................	412
Monocular Nystagmus............................................................................................	413
Nystagmus Associated with Infantile Esotropia..........................................................	413
Torsional Nystagmus..............................................................................................	413
Horizontal Nystagmus............................................................................................	414
Latent Nystagmus...................................................................................................	414
Nystagmus Blockage Syndrome..................................................................................	417
Treatment of Nystagmus Blockage Syndrome......................................................	417
Vertical Nystagmus......................................................................................................	417
Upbeating Nystagmus in Infancy...........................................................................	417
Congenital Downbeat Nystagmus..........................................................................	418
Hereditary Vertical Nystagmus...............................................................................	419
Periodic Alternating Nystagmus..................................................................................	419
Seesaw Nystagmus......................................................................................................	420
Congenital versus Acquired Seesaw Nystagmus....................................................	420
Saccadic Oscillations that Simulate Nystagmus..........................................................	421
Convergence-Retraction Nystagmus......................................................................	421
Opsoclonus and Ocular Flutter...............................................................................	421
Voluntary Nystagmus.............................................................................................	423
Ocular Bobbing...........................................................................................................	424

xvi	Contents
Neurological Nystagmus...........................................................................................	424
Leigh Subacute Necrotizing Encephalomyelopathy.............................................	425
Pelizaeus-Merzbacher Disease...................................................................................	425
Joubert Syndrome.................................................................................................	425
Santavuori-Haltia Disease ...................................................................................	426
Infantile Neuroaxonal Dystrophy.........................................................................	426
Carbohydrate-Deficient Glycoprotein Syndromes...............................................	426
Down Syndrome........................................................................................................	426
Hypothyroidism....................................................................................................	426
Maple Syrup Urine Disease..................................................................................	426
Nutritional Nystagmus..........................................................................................	427
Epileptic Nystagmus.............................................................................................	427
Cobalamin C Methylmalonic Aciduria and Homocystinuria...............................	427
Familial Vestibulocerebellar Disorder..................................................................	427
Summary....................................................................................................................	427
References.................................................................................................................	429
9 Torticollis and Head Oscillations............................................................................	443
Introduction...............................................................................................................	443
Torticollis...................................................................................................................	443
Ocular Torticollis..................................................................................................	444
Head Tilts..............................................................................................................	445
Head Turns............................................................................................................	450
Vertical Head Positions.........................................................................................	452
Refractive Causes of Torticollis............................................................................	453
Neuromuscular Causes of Torticollis...................................................................	453
Systemic Causes of Torticollis.............................................................................	455
Head Oscillations.......................................................................................................	455
Head Nodding with Nystagmus............................................................................	455
Head Nodding without Nystagmus......................................................................	457
Visual Disorders...................................................................................................	459
Otological Abnormalities.....................................................................................	459
Systemic Disorders...............................................................................................	459
References.................................................................................................................	460
10 Neuro-Ophthalmologic Manifestations of Neurodegenerative
Disease in Childhood................................................................................................	465
Introduction...............................................................................................................	465
Neuronal Disease.......................................................................................................	467
Neuronal Ceroid Lipofuscinosis...........................................................................	467
Lysosomal Diseases...................................................................................................	470
Gangliosidoses......................................................................................................	470
Mucopolysaccharidoses........................................................................................	474
Subacute Sclerosing Panencephalitis.........................................................................	476
White Matter Disorders.............................................................................................	477
Metachromatic Leukodystrophy...........................................................................	478
Canavan Disease (Spongy Degeneration of Cerebral White Matter)...................	478
Krabbe Disease.....................................................................................................	479
Pelizaeus–Merzbacher Disease.............................................................................	479
Cockayne Syndrome.............................................................................................	480
Alexander Disease................................................................................................	481
Sjögren–Larsson Syndrome..................................................................................	481
Cerebrotendinous Xanthomatosis.........................................................................	482
Peroxisomal Disorders...............................................................................................	482

Contents	xvii
Zellweger Syndrome.............................................................................................	483
Adrenoleukodystrophy.........................................................................................	483
Basal Ganglia Disease...............................................................................................	485
Pantothenate Kinase-Associated Neurodegeneration...........................................	485
Wilson Disease.....................................................................................................	486
Aminoacidopathies and Other Biochemical Defects.................................................	486
Maple Syrup Urine Disease..................................................................................	486
Homocystinuria....................................................................................................	487
Abetalipoproteinemia...........................................................................................	487
Mitochondrial Encephalomyelopathies.....................................................................	488
Chronic Progressive External Ophthalmoplegia (CPEO).....................................	489
Leigh Subacute Necrotizing Encephalomyelopathy.............................................	490
Mitochondrial Encephalomyelopathy and Stroke-Like
Episodes (MELAS)..............................................................................................	492
Myoclonic Epilepsy and Ragged Red Fibers (MERRF)......................................	492
Mitochondrial Depletion Syndrome.....................................................................	492
Congenital Disorders of Glycosylation.....................................................................	493
Horizons....................................................................................................................	493
References.................................................................................................................	494
11 Neuro-Ophthalmologic Manifestations of Systemic
and Intracranial Disease .........................................................................................	503
Introduction...............................................................................................................	503
The Phakomatoses.....................................................................................................	503
Neurofibromatosis (NF1)......................................................................................	503
Neurofibromatosis 2 (NF2)...................................................................................	510
Tuberous Sclerosis................................................................................................	513
Sturge–Weber Syndrome......................................................................................	517
von Hippel–Lindau Disease..................................................................................	519
Ataxia Telangiectasia............................................................................................	521
Linear Nevus Sebaceous Syndrome.....................................................................	523
Klippel–Trenauney–Weber Syndrome.................................................................	523
Brain Tumors.............................................................................................................	525
Suprasellar Tumors...............................................................................................	527
Arachnoid Cysts...................................................................................................	528
Cavernous Sinus Lesions......................................................................................	528
Hemispheric Tumors............................................................................................	529
Posterior Fossa Tumors........................................................................................	530
Brainstem Tumors................................................................................................	533
Tumors of the Pineal Region................................................................................	536
Meningiomas........................................................................................................	537
Epidermoids and Dermoids..................................................................................	537
Gliomatosis Cerebri..............................................................................................	538
Metastasis.............................................................................................................	538
Complications of Treatment of Intracranial Tumors in Children.........................	538
Hydrocephalus...........................................................................................................	539
Hydrocephalus due to CSF Overproduction.........................................................	540
Noncommunicating Hydrocephalus.....................................................................	540
Communicating Hydrocephalus...........................................................................	540
Common Causes of Hydrocephalus in Children..................................................	541
Clinical Features of Hydrocephalus.....................................................................	548
Effects and Complications of Treatment..............................................................	551
Vascular Lesions........................................................................................................	553
AVMs....................................................................................................................	553

xviii	Contents
Cavernous Angiomas............................................................................................	556
Intracranial Aneurysms.........................................................................................	556
Isolated Venous Ectasia........................................................................................	557
Craniocervical Arterial Dissection.......................................................................	557
Strokes in Children....................................................................................................	557
Cerebral Venous Thrombosis................................................................................	558
Cerebral Dysgenesis and Intracranial Malformations...............................................	559
Destructive Brain Lesions.....................................................................................	560
Malformations Due to Abnormal Stem Cell Proliferation or Apoptosis..............	562
Malformations Due to Abnormal Neuronal Migration.........................................	564
Malformations Secondary to Abnormal Cortical Organization
and Late Migration..........................................................................................	565
Anomalies of the Hypothalamic–Pituitary Axis...................................................	568
Encephaloceles.....................................................................................................	568
Cerebellar Malformations.....................................................................................	569
Miscellaneous............................................................................................................	572
Congenital Corneal Anesthesia............................................................................	572
Reversible Posterior Leukoencephalopathy..........................................................	572
Cerebroretinal Vasculopathies..............................................................................	573
Syndromes with Neuro-Ophthalmologic Overlap.....................................................	573
Proteus Syndrome.................................................................................................	573
PHACE Syndrome................................................................................................	573
Goldenhar Syndrome (Oculoauriculovertebral Dysplasia)..................................	573
Delleman (Oculocerebrocutaneous) Syndrome....................................................	574
Encephalocraniocutaneous Lipomatosis...............................................................	574
Incontinentia Pigmenti (Bloch–Sulzberger Syndrome)........................................	574
References.................................................................................................................	576
Index.................................................................................................................................	597

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Foreword

Preface

Contents