Genetics of Chiari Malformation with and without syringomyelia.
Washington University in St. Louis and their partners in research are looking for individuals with Chiari Malformations, and relatives of those with Chiari Malformations, to participate in a genetics study that will help us understand why some people have this diagnosis and others do not. If you would be interested in helping us with this very important research, please follow this link and answer a short two-minute survey to
The Park & Reeves Syringomyelia Research Consortium is a multi-institutional North American research effort founded to improve the medical and surgical care of children with syringomyelia related to Chiari I malformation. Through collaboration, we will work to enrich the lives and prevent disability in those affected by this condition. If you have a Chiari malformation and Syringomyelia (a syrinx) and are interested in participating please email us at firstname.lastname@example.org to see if you qualify. There is no compensation provided for participation.
The purpose of this study is to determine whether a posterior fossa decompression or a posterior fossa decompression with duraplasty results in better patient outcomes with fewer complications and improved quality of life in those who have Chiari malformation type I and syringomyelia.
Participants with Chiari Malformation type I and syringomyelia will be randomized to either have a posterior fossa decompression done with or without duraplasty. The participant will then return to the neurosurgeon’s office at the following time points which are consistent with standard of care practice: < 6 weeks, 3-6 months, and 12 months. At these visits, the clinician will complete a physical exam and the participant will report on the prognosis of symptoms and complete two quality of life questionnaires. A brain and cervical spine MRI will be performed 12 months after the decompression.
Enrollment is closed for this Trial. For a trial update please join us at our next Chiari Family Workshop. Events
There are limited data describing disparities in treatment access and outcome for CM+/-SM. The currently proposed study seeks to determine the relationship between geographic and demographic factors, including insurance status and race, on access to surgical treatment, clinical outcomes, and quality of life (QOL) for CM+/-SM. By
analyzing these effects, we hope to understand and ultimately reduce disparities in the diagnosis and treatment of CM+/-SM.
Syringomyelia is a debilitating neurological condition caused by the accumulation of fluid within the spinal cord. While the cause is not well understood, it most frequently occurs in combination with Chiari I malformation, which is an abnormality involving the base of the brain and skull. Syringomyelia frequently causes chronic pain and weakness or loss of sensation in the extremities. If left untreated, these symptoms may progress to paralysis and worsened quality of life.
Fortunately, the progression of syringomyelia is gradual and may be halted—and in some cases reversed—with early diagnosis and appropriate surgical treatment.
The goal of this study is to mine data from the Park-Reeves Syringomyelia Research Consortium (PRSRC) to examine:
a. Analysis of the basion-inferior posterior point of C2 (pBC2) with imaging modalities (CT/MRI) and its effect on surgical outcomes.
b. Predictors of treatment failure and need for subsequent occiput cervical fusion; with or without anterior decompression; or long segment posterior spinal fusion
c. Analysis of spinal deformities after posterior fossa decompression with or without duroplasty
d. Surgical treatment and management in young children
e. Analysis of surgical revisions within various pediatric age groups
f. Describe the natural history of spinal plane deformity prior to surgery
g. Imaging analysis between syrinx location and degree of spinal deformity, as well as the relative contributions to nearby spine anatomy (tonsil position, CVJ morphology, pelvic tilt, etc)
h. Comparing surgical vs nonsurgical candidates and associated outcomes.
j. Examining pre-existing genetic conditions, such as Noonan’s syndrome, predispose to CM + SM.
The treatment of CM-I is one of the most common and also most contentious topics in pediatric neurosurgery. Currently, measures to predict patient outcomes and evidence comparing surgical techniques are insufficient.
To provide improved prognostic information and to lay a foundation for treatment comparisons, we will validate a multi-dimensional composite index to classify the severity of clinical and imaging findings for patients presenting with CM-I. As a second aim, we will compare the treatment effectiveness of PFD and PFDD. To judge patient outcomes, we will use a scoring system that has recently been developed. The aim of this proposal is to expand and augment this chart-based data with responses to a newly-distributed questionnaire given to patients and/or their parents. The data gathered from this questionnaire will provide a more accurate reflection of patient outcomes than could be accomplished using chart review alone. When complete, these studies will help provide important prognostic information to patients with CM-I and will help guide treatment decisions.
We would like to understand the pathophysiology underlying scoliosis development in the setting of Chiari malformation (CM) type I and syringomyelia with the ultimate goal of interrupting the natural history of curve progression in this group of patients.
Chiari I malformations are congenital ectopia of the cerebellar tonsils, with highly variable clinical presentation ranging from asymptomatic patients to those with severe long-standing neurologic deficits. Chiari II malformations are almost invariably associated with myelomeningocele and are characterized by the caudal displacement of the cerebellar vermis, brainstem and 4th ventricle. Surgery for decompression is considered for patients with syringomyelia or symptoms of neural compression. The goals of surgery are to relieve pressure on the brainstem, eliminate the pressure differential between the cranial and spinal compartments and restore cerebrospinal fluid (CSF) flow.
The operative techniques described in the literature are diverse. These include bone-only decompression of the suboccipital region and upper cervical spine, decompression of the cervical spine alone with durotomy; suboccipital decompression, durotomy and cervical laminectomy; and suboccipital decompression, durotomy, duroplasty and cervical decompression. Exploration of the fourth ventricle has also been advocated. However, there is anecdotal evidence that dural opening may not be necessary to achieve the aforementioned goals, especially in infants and young children. The goal of this research proposal is to retrospectively review the operative management of Chiari type I and II malformations at St. Louis Children’s Hospital in order to evaluate the different surgical techniques used for the treatment and the imaging modalities used for the evaluation of this condition. Similarly, our collaborators at Vanderbilt and Columbia University will share their data with us. We will use both their data as well as our own in our final publication in order to maximize the impact of our findings.