CSF-Venous Fistulas Occurring in First-Degree Relatives: A Multicenter Case Series

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• Spontaneous intracranial hypotension (SIH) is often caused by CSF-venous fistulas (CVF).
• While nonheritable risk factors like obesity and spinal changes are known, the pathogenesis of CVF remains unclear.
• The potential for genetic predisposition in CVF has not been investigated.

Purpose of the Study:

• To explore the possibility of a heritable basis for CSF-venous fistulas.
• To describe the clinical and imaging characteristics of first-degree relatives diagnosed with CVF.

Main Methods:

• Retrospective, multi-center case series.
• Evaluation of eight patients across four pairs of first-degree relatives with confirmed CVF.
• Analysis of clinical and imaging findings, including body mass index and spinal meningeal diverticula.

Main Results:

• The majority of patients presented with elevated body mass index and spinal meningeal diverticula.
• No patients exhibited signs of a connective tissue disorder.
• This series highlights familial occurrences of CVF.

Conclusions:

• Findings support established nonheritable risk factors for CVF.
• The study suggests that genetic predispositions may contribute to the development of CSF-venous fistulas.
• Further research into the genetic basis of CVF is warranted.