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Published on: June 18, 2021
[Familial spontaneous intracranial hypotension]
D Larrosa1, J L Vázquez, I Mateo
1Servico de Neurologia, y Centro de Investigación Biomédica en Red sobre enfermedades Neurodegeneratives, Hospital Universitaro Marqués de Valdecilla, Santander.
Neurologia (Barcelona, Spain)
|November 19, 2009
Summary
Familial cases of spontaneous intracranial hypotension (SIH), a condition causing spinal cerebrospinal fluid leaks, suggest a genetic link. This may indicate a hereditary susceptibility to spinal meninge weakness, leading to SIH.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Spontaneous intracranial hypotension (SIH) presents with orthostatic headache and dural enhancement on MRI.
- SIH is typically caused by spinal cerebrospinal fluid (CSF) leaks.
- A connective tissue disorder is found in approximately two-thirds of SIH patients, but familial cases were previously unreported.
Observation:
- This report details three healthy female patients from the same family diagnosed with SIH.
- These patients exhibited no physical signs of connective tissue disease.
Findings:
- The occurrence of SIH in multiple family members suggests a potential genetic predisposition.
- This familial pattern points towards an inherited susceptibility, possibly related to reduced spinal meningeal resistance.
Implications:
- These findings challenge the notion that SIH is solely sporadic.
- Identifying a genetic component could lead to new diagnostic approaches and understanding of SIH etiology.
- Further research into genetic factors may uncover novel therapeutic targets for spontaneous intracranial hypotension.
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