Intracranial and extracranial vascular manifestations of patients with a clinical diagnosis of Klippel-Trenaunay syndrome.

BACKGROUND AND PURPOSE: While numerous reports have demonstrated intracranial CNS anomalies associated with Klippel-Trenaunay syndrome, to our knowledge, there has not been a large consecutive study examining these anomalies. The aim of this study was to determine the spectrum of intracranial neurovascular manifestations in patients with a clinical diagnosis of Klippel-Tranaunay syndrome. METHODS: Consecutive patients with a clinical diagnosis of Klippel-Trenaunay syndrome, as defined by the International Society for the Study of Vascular Anomalies, who underwent brain contrast-enhanced CT/computed tomography angiography, MRI/magnetic resonance angiography, or digital subtraction angiography at our institution from 2000 to 2019 were included. Studies were evaluated by a neuroradiologist and a senior radiology resident for the presence of cavernous malformations, developmental venous anomalies, venous sinus developmental abnormalities, craniofacial venous malformations, intraosseous venous malformations, and intracranial/extracranial venous abnormalities. RESULTS: Fifty patients with definite KTS were included. Thirty-four neurovascular anomalies were found in 17 patients (34.0%), including 8 with multiple anomalies. Nine patients had developmental venous anomalies (18.0%), 7 had craniofacial venous malformations (14.0), 6 had venous sinus developmental abnormalities (12.0%), 7 had intraosseous venous malformations (14.0%), and 2 had cavernous malformations (4.0%), and 9 patients had both intracranial venous abnormalities and craniofacial or calvarial findings (13.0%). CONCLUSION: Our findings demonstrate that Klippel-Trenaunay syndrome can involve a wide spectrum of intracranial neurovascular anomalies predominantly involving the venous system.

Association Between Klippel-Trenaunay Syndrome and Spontaneous Intracranial Hypotension: A Report of 4 Patients.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is associated with a wide variety of vascular and neurologic abnormalities, including venolymphatic malformations. A recent report postulated that patients with KTS may also be predisposed to spontaneous intracranial hypotension. We reviewed brain magnetic resonance imaging from 67 patients with KTS and unexpectedly noted findings of cerebrospinal fluid (CSF) hypotension in 4 of them. CASE DESCRIPTION: Patients included a 39-year-old woman with episodic orthostatic headaches, a 62-year-old woman with orthostatic headaches and light-headedness, a 14-year-old girl with a history of headaches for years, and an asymptomatic 20-year-old man. All 4 patients had known KTS, and all had brain magnetic resonance imaging done during their evaluation showing evidence of CSF hypotension. The first 2 patients also had spine imaging demonstrating paraspinal and/or epidural venolymphatic malformations. The second patient had a meningeal diverticulum and underwent surgical repair with intraoperative evidence of a CSF leak. CONCLUSIONS: Patients with KTS have an increased incidence of CSF hypotension. While it is possible that intrinsic dural weakness may be responsible for this association, we hypothesize that these patients are also predisposed to developing CSF venous fistulas. Paraspinal and epidural venolymphatic malformations have been described in multiple patients with CSF venous fistulas. Such malformations were present in 2 of our 4 patients who underwent spine imaging. Patients with KTS with orthostatic headaches may benefit from brain and spine magnetic resonance imaging to assess for evidence of CSF hypotension and venolymphatic malformations. Decubitus digital subtraction myelography may also have a role in these patients if CSF venous fistulas are suspected.