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Family History in Chiari Malformation Type I: Presentation and Outcome
James Feghali1, Elizabeth Marinaro1, Yangyiran Xie2
1Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Insights
A family history of Chiari malformation type I (CM-1) does not alter initial presentation but may predict poorer surgical outcomes. Patients with a CM-1 family history showed less favorable results after suboccipital decompression.
Area of Science:
- Neurosurgery
- Genetics
- Clinical Neurology
Background:
- Chiari malformation type I (CM-1) can present with a family history, but its clinical significance is unclear.
- Understanding the impact of familial CM-1 is crucial for patient management and prognosis.
Purpose of the Study:
- To investigate if a family history of CM-1 influences clinical presentation and surgical outcomes in adult patients.
- To compare outcomes between CM-1 patients with and without a known family history.
Main Methods:
- Retrospective analysis of adult CM-1 patients (2006-2018).
- Comparison of presenting characteristics between patients with and without a family history (first, second, or third degree).
- Evaluation of surgical outcomes (suboccipital decompression) and favorable outcomes (Chiari Outcome Scale ≥14) based on family history.
Main Results:
- Of 233 CM-1 patients, 6% had a positive family history; presenting characteristics were similar.
- 150 patients underwent surgery, with 8% having a family history.
- Patients with a family history were significantly less likely to achieve a favorable outcome (OR 0.22, P=0.019), particularly for pain symptoms.
Conclusions:
- Clinical presentation of CM-1 is comparable regardless of family history.
- A positive family history may indicate a reduced likelihood of a favorable response to suboccipital decompression surgery for CM-1.
Background:
Some patients with Chiari malformation type I (CM-1) present with a positive family history of CM-1, the significance of which remains unknown. We aimed to study whether family history affects the clinical presentation characteristics and surgical outcome of adult patients with CM-1.
Methods:
A database of adult patients with CM-1 presenting between January 1, 2006 and December 31, 2018 was used. Presenting characteristics were compared between patients with and without a family history (first, second, or third degree) of CM-1. Among surgically treated patients, perioperative and long-term outcomes, with favorable outcome defined as a Chiari Outcome Scale score ≥14, were compared between patients with and without CM-1 family history. All patients completed at least 6 months of postoperative follow-up.
Results:
The database consisted of 233 adult patients with CM-1, 14 of whom (6%) had a positive family history. Presenting characteristics were comparable between patients with and without a positive family history. A total of 150 patients underwent suboccipital decompression, 12 of whom (8%) had a positive family history. After a mean follow-up of 1.9 years, patients with a family history of CM-1 were significantly less likely to achieve a favorable outcome (odds ratio, 0.22; 95% confidence interval, 0.06-0.78; P = 0.019) while controlling for several covariates. Post hoc analysis showed that the difference was most significant when looking at pain symptoms.
Conclusions:
Presentation characteristics are comparable between patients with and without a family history of CM-1. Patients with a positive family history may be less likely to respond favorably to suboccipital decompression.
