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Klippel–Trenaunay–Weber Syndrome (KTWS) and Spontaneous Spinal CSF Leak: Coincidence or Link


  • Bahram Mokri MD

    Corresponding author
    1. Department of Neurology, Mayo Clinic, Rochester, MN, USA
    • Address all correspondence to B. Mokri, Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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  • Conflict of Interest: None.



To highlight the occurrence of spontaneous cerebrospinal fluid (CSF) leak in the setting of Klippel–Trenaunay–Weber syndrome (KTWS).


KTWS is a congenital multicomponent disorder of angiogenesis plus limb asymmetry. The cause of spontaneous CSF leaks often remains unknown, but the notion of a pre-existing dural weakness related to a disorder of connective tissue matrix is gaining momentum.

Report of Cases and Methods

Two women with KTWS developed spontaneous CSF leaks. Each underwent extensive head and spine imaging studies. One patient underwent surgery to treat the CSF leak and later an epidural blood patch upon partial recurrence of her symptoms. The other patient, who had intermittent CSF leak, developed cerebral venous thrombosis requiring several months of anticoagulation therapy. Both patients have histories of visceral bleeding: gastrointestinal in 1 patient and genitourinary in the other.


The predominant site of vascular anomaly was the left lower limb in 1 patient and the right upper limb in the other, while the involved limb was larger in 1 patient and smaller in the other. Each patient presented with orthostatic headaches. One had additional choreiform movements and cognitive difficulties that responded to the treatment of the leak. Head magnetic resonance imaging in both patients showed diffuse pachymeningeal enhancement and evidence of sinking of the brain. Computed tomography myelography in 1 patient disclosed the site of the leak; and she underwent surgery to treat the leak, and later an epidural blood patch upon partial recurrence of her symptoms to which she responded well. The other patient had intermittent leak with history of long remission and was reluctant to go through invasive diagnostic or therapeutic measures.


The occurrence of an uncommon disorder (spontaneous CSF leak) in the setting of a rare congenital disorder in 2 unrelated patients is intriguing. Whether this represents coincidence or a link is not clear but deserves further observations and investigation.