Chiari I Malformation

Contents
Preface: Advances in the Field of Chiari I Malformation and Integrating Them into Clinical
Practice xv
David D. Limbrick, Jr and Jeffrey R. Leonard

The Nomenclature of Chiari Malformations 1

Michael J. Cools, John C. Wellons III, and Bermans J. Iskandar

The current nomenclature of Chiari malformations includes the standard designa-

tions, Chiari 1–4, which were described by Hans Chiari in the late nineteenth century,
and more recent additions, Chiari 0, 0.5, and 1.5, which emerged when the standard
nomenclature failed to include important anatomical variations. The authors
describe these entities and propose that to best optimize clinical care and research,
it would be wise to place less focus on the eponyms and more effort on developing a
descriptive or pathophysiological nomenclature.

Epidemiology of Chiari I Malformation and Syringomyelia 9

Katherine G. Holste, Karin M. Muraszko, and Cormac O. Maher

Chiari I malformation is a common condition seen by adult and pediatric neurosur-

geons. With increased utilization of MRI over time, incidental findings of Chiari I mal-
formation are occurring more frequently. The prevalence of symptomatic Chiari I
malformation is much smaller than that of asymptomatic Chiari I malformation.
The prevalence of Chiari I malformation-associated syringomyelia is likely overesti-
mated in the literature. The epidemiology of Chiari I malformation and associated sy-
ringomyelia differs based on age, sex, ethnicity, race, and socioeconomic status.
The natural history of Chiari I malformation and associated syringomyelia appears
to be quite benign as few patients who are managed nonsurgically later require sur-
gical intervention.

Sociodemographics of Chiari I Malformation 17

Syed Hassan Abbas Akbari

Socioeconomic and demographic factors affect the care of patients with Chiari I
malformations. This article describes the current cost of surgical treatment of Chiari
I malformations and highlights how careful patient selection, treatment selection,
postoperative protocols, and varying payment models may serve as cost-
reducing measures. In addition, the article highlights racial disparities resulting in de-
layed diagnosis and greater disease progression in non-white patients, as well as the
relative parity in the workup and treatment of Chiari I malformation based on insur-
ance status. These findings illustrate the need for greater access to neurosurgical
care and greater outreach to community physicians by the neurosurgical
community.

Clinical Manifestations of Chiari I Malformation 25

Ziyad Makoshi and Jeffrey R. Leonard

Chiari 1 malformation (CM1) includes a spectrum of clinical manifestations. These

signs and symptoms result from compression at the cervicomedullary junction
viii Contents

and alteration in cerebrospinal fluid dynamics thus affecting several structures

above, at, and below the cervicomedullary junction. Differences in presentation exist
among different age groups and high clinical suspicion should be present in younger
children. Additionally, CM1 can be associated with other diagnoses and can have
unusual acute presentations that should be recognized to ensure excellent
outcomes.

Chiari I Malformation and Sleep-Disordered Breathing 35

Alexandria C. Marino, Faraz Farzad, and John A. Jane Jr

Sleep-disordered breathing (SDB) is a frequent symptomatic feature of pediatric

Chiari I, reported in at least 24% of patients presenting to neurosurgeons. Here
the epidemiology, natural history, pathophysiology, and diagnosis of SDB in Chiari
I is reviewed. Diagnosis requires polysomnography, which should be pursued in
young or symptomatic patients or those with prominent imaging findings. Review
of case series of surgical decompression suggest that surgical decompression
can improve SDB in selected patients.

Orthostatic Intolerance and Chiari I Malformation 43

Lindsay S. Petracek and Peter C. Rowe

Individuals with Chiari malformation can present with symptoms of fatigue, light-
headedness, and syncope—the cardinal features of orthostatic intolerance. Similar
orthostatic symptoms can complicate the clinical course following Chiari decom-
pression. The presence of orthostatic intolerance in patients with Chiari malforma-
tion is not surprising given the location of the major circulatory control centers
and their pathways in the brainstem. This article reviews the normal physiologic
response to upright posture and the common forms of orthostatic intolerance
encountered in clinical practice. The authors describe the relationship between
orthostatic intolerance and Chiari malformation and provide suggestions regarding
the evaluation and management of these disorders.

Elucidating the Genetic Basis of Chiari I Malformation 55

Gabe Haller and Brooke Sadler

Several studies have been performed to elucidate the genetic basis of Chiari I mal-
formation (CM1). The heritability of CM1 is clear from twin studies, familial clustering,
and the prevalence of CM1 among certain classes of Mendelian disorders, namely
connective tissue disorders, brain overgrowth disorders, disorders of CSF homeo-
stasis, certain tumors, disorders of skull development and vascular conditions. A
comprehensive understanding of the causes of CM1 will require large cohorts of pa-
tients for genetic studies and in-depth phenotyping of cases to better understand
the biological mechanisms underlying disease.

Chiari I Malformations and the Heritable Disorders of Connective Tissue 61

Meghan Ellington and Clair A. Francomano

The heritable disorders of connective tissue (HDCTs) are a heterogeneous group of

inherited disorders caused by pathogenic variants in genes encoding a wide range
of molecules involved in the structure and function of the extracellular matrix.
Currently, more than 450 HDCTs are recognized. These include the Ehlers-Danlos
syndrome (EDS), Marfan syndrome, Loeys-Dietz syndrome (LDS), Stickler
 Contents ix

syndrome, and a wide range of skeletal dysplasias. Recent evidence suggests that
people with the HDCTs are at an increased risk of Chiari I malformation (CM1).

Imaging in Chiari I Malformation 67

Jonathan Pindrik, Aaron S. McAllister, and Jeremy Y. Jones

Chiari I Malformation represents a hindbrain anomaly best demonstrated radio-

graphically with MRI. Brain and spine MRI provide optimal anatomic detail of cere-
bellar tonsillar descent below the foramen magnum and may reveal additional
imaging features including ventriculomegaly (potentially leading to the diagnosis of
hydrocephalus), characteristics of intracranial hypertension or hypotension, spinal
cord syrinx, scoliosis, and/or tethered spinal cord. Specialized imaging sequences
provide enhanced visualization of ventral and dorsal cervicomedullary cisterns
and cerebrospinal fluid flow. Although these studies contribute critical information
for evaluation, their impact on surgical decision-making remains uncertain. Addi-
tional radiographic measures (pBC2 and clival-axial angle) may impact surgical
planning and risk assessment.

Cerebrospinal Fluid Hydrodynamics in Chiari I Malformation and Syringomyelia:

Modeling Pathophysiology 81
John D. Heiss

Anatomic MRI, MRI flow studies, and intraoperative ultrasonography demonstrate

that the Chiari I malformation obstructs CSF pathways at the foramen magnum
and prevents normal CSF movement through the foramen magnum. Impaired CSF
displacement across the foramen magnum during the cardiac cycle increases pul-
satile hindbrain motion, pressure transmission to the spinal subarachnoid space,
and the amplitude of CSF subarachnoid pressure waves driving CSF into the spinal
cord. Central canal septations in adults prevent syrinx formation by CSF directly
transmitting its pressure wave from the fourth ventricle to the central canal

Adult Chiari Malformation Type I: Surgical Anatomy, Microsurgical Technique, and

Patient Outcomes 91
Alisa Arnautovic, Mirza Pojskic, and Kenan I. Arnautovic

Video content accompanies this article at http://www.neurosurgery.theclinics.com.

In this study, the authors summarize the current knowledge on epidemiology, demo-
graphics, risk factors, and prognostic factors that influence outcomes in patients
with adult Chiari malformation type I (CM-I) who underwent posterior fossa decom-
pression surgery with duraplasty. Furthermore, they describe the contribution of
their research group to the field of adult CM-I treatment, including the association
of increased body mass index with severity of CM-I and syringomyelia, relevant sur-
gical anatomy, and surgical technique of 270 microsurgical decompression of fora-
men magnum. The authors also report on common complications in the literature
and describe techniques for prevention of complications.
x Contents

Posterior Fossa Decompression with or Without Duraplasty for Chiari I Malformation 105
Alexander T. Yahanda and David D. Limbrick, Jr

Posterior fossa decompression (PFD) with/without duraplasty is the standard surgi-

cal treatment for symptomatic CM-1. Posterior fossa decompression without dura-
plasty (PFD) may be associated with shorter operative times and hospital stays,
fewer complications, and may yield improvements in symptoms and syrinx sizes.
Posterior fossa decompression with duraplasty (PFDD) may be associated with su-
perior long-term symptomatic improvements, larger syrinx reductions, and a lower
need for revision decompression. Various dural graft materials may be used for
PFDD, though the ideal type of graft has not been definitively established. Other
adjunct surgical procedures may be added to PFD/PFDD given certain symptomatic
or anatomical considerations.

Short-Term and Long-Term Complications Associated with Posterior Fossa

Decompression for Chiari Malformation 113
Ulrich Batzdorf

Surgery is the treatment of choice for symptomatic patients with Chiari anomalies
Although the surgical treatment of Chiari anomalies in adults is a straightforward pro-
cedure, complications and less than satisfactory outcomes do occur. Understand-
ing these complications is important for correcting the problem as well as
preventing the recurrence of similar problems. In this article, the author review the
short-term and long-term complications associated with posterior fossa decom-
pression for Chiari malformation.

Management of Ventral Brainstem Compression in Chiari Malformation Type I 119

Brian J. Dlouhy and Arnold H. Menezes

Craniovertebral junction (CVJ) abnormalities are associated with the Chiari malfor-
mation type I. These abnormalities may lead to ventral brainstem compression
which can be reduced with traction and posterior reduction using instrumentation.
In other cases, the irreducible CVJ pathology with persistent ventral brainstem
compression requires ventral decompression. In all cases, a posterior extradural
or extra-intradural decompression is required along with an occipitocervical fusion
to maintain the reduced and realigned CVJ or stabilize the CVJ after a ventral
decompression.

Craniovertebral Junction Instability in the Setting of Chiari Malformation 131

Yosef M. Dastagirzada, David B. Kurland, Todd C. Hankinson, and Richard CE. Anderson

Studies have documented that 1% to 4% of patients undergoing MRI of the brain or

cervical spine will be diagnosed with Chiari Malformation I. More recently, CM have
been described as a spectrum of disease (Chiari 0, 1.5, complex). Craniocervical
junction instability may be more prevalent in certain Chiari phenotypes. Despite
the very low incidence of CVJ instability in the CMI population at large, clinicians
must be aware of the important radiographic and clinical factors that are associated
with various versions of Chiari malformations so the best clinical management deci-
sions can be made.
 Contents xi

Complex Chiari Malformations: Diagnosis, Evaluation, and Treatment 143

Vijay M. Ravindra and Douglas L. Brockmeyer

The term “complex Chiari malformation” (CCM) refers to a subset of clinical and
radiographic findings that describe a subpopulation of Chiari patients with cranio-
cervical kyphosis and secondary brainstem compression. These patients are at a
greater risk for unsuccessful surgical treatment with standard Chiari surgical decom-
pressive procedures and may require craniocervical fusion and/or odontoid resec-
tion. This article reviews concepts related to the diagnosis, management, and
treatment of CCM and discusses possible directions for future research.

Spine Deformity Associated with Chiari I Malformation and Syringomyelia 151

Somnath Das, Lauren Stone, Jakub Godzik, and Michael Kelly

The management of scoliosis in patients with Chiari I malformation and syringomy-

elia is a complex decision-making process, which is changing due to evolving evi-
dence. Headache and scoliosis are common presenting symptoms of an
underlying Chiari. History, physical examination, and screening with MRI are corner-
stones of diagnosis. Posterior fossa decompression provides curve stabilization or
regression in about half of patients. In those who require spinal fusion, careful atten-
tion must be paid to intraoperative neurological monitoring data to minimize risk of
neurologic injury.

Role of Chiari Decompression in Managing Spinal Deformity Associated with Chiari I

Malformation and Syringomyelia 159
Silky Chotai, Diane J. Aum, and Jennifer M. Strahle

CM-I-associated syringomyelia is a risk factor for scoliosis where a larger syrinx size
is more likely to be associated with scoliosis. Therefore, the effect of syrinx on scoli-
osis progression may be alleviated by PFD. There is no difference in the need for
fusion surgery between patients undergoing PFD with duraplasty vs. those undergo-
ing extradural decompression; however, PFD with duraplasty is associated with an
improvement in curve magnitude compared to extradural decompression alone.
Further study on the comparison of PFD techniques for this cohort of patients is
needed. PFD is a durable surgical option for patients with CM-I, syrinx, and scoliosis.
Early decompression of CM-I in younger patients and those with smaller curve
magnitude at presentation is recommended as there is a higher likelihood of halting
curve progression.

Assessing Clinical Outcome Measures in Chiari I Malformation 167

Nishit Mummareddy, Akshay Bhamidipati, and Chevis N. Shannon

The purpose of this article was to consider, evaluate, and compare the clinical out-
comes measurement tools that are used to assess patients with Chiari I malforma-
tion. This article highlights the variety of general and disease-specific outcome
measures used in both the pediatric and adult Chiari I malformation patient popula-
tions. Although general measures can be associated with clinical outcomes and
quality of life, that association is not often found to be statistically significant, and
they do not often have the capabilities to assess and measure factors that directly
impact the Chiari patient population. However, limitations exist when considering
the disease-specific outcome measures, as these tools most often have not been
rigorously evaluated externally from the initial validation or have been externally vali-
dated but results cannot be replicated. Identifying an outcomes measurement tool
xii Contents

for both adults and patients will contribute to the clinical tools available to providers
for decision-making and management.

Idiopathic Intracranial Hypertension and Vascular Anomalies in Chiari I Malformation 175

David C. Lauzier, Sarah N. Chiang, Arindam R. Chatterjee, and Joshua W. Osbun

Mounting evidence has suggested a relationship between Chiari I malformation and

idiopathic intracranial hypertension, with some studies implicating anomalies of the
cerebral venous system in the development of these conditions. However, precise
mechanisms explaining these associations are not well described. There is a clear
need to clarify the interplay between these conditions to guide further study in this
area. In tandem with these efforts, it is necessary to review proper diagnosis and
management to improve outcomes in patients suffering from these diseases.

Cerebrospinal Fluid Leaks, Spontaneous Intracranial Hypotension, and Chiari I

Malformation 185
Rahul Kumar, Jeremy K. Cutsforth-Gregory, and Waleed Brinjikji

Spontaneous intracranial hypotension (SIH) occurs secondary to cerebrospinal fluid

(CSF) hypovolemia in the setting of noniatrogenic spinal CSF leak. Although ortho-
static headache is characteristic, atypical presentations can occur. Cranial imaging
can disclose characteristic imaging features of SIH but spinal imaging is needed for
leak localization. Although advanced diagnostic workup and treatment depend on
the type of CSF leak, differentiation of SIH from other headache pathologic condi-
tions, such as Chiari I malformation, is crucial to prevent misdiagnosis and ineffec-
tive treatment.