Noninvasive diagnosis and management of spontaneous intracranial hypotension in patients with marfan syndrome: Case Report and Review of the Literature
A 58-year-old, right-handed female with a history of Marfan syndrome, mechanical aortic valve replacement on warfarin anticoagulation, and hypertension presented to NYU Medical Center complaining of a severe, sudden-onset headache after straining at stool. She described her headache as diffuse, with radiation to the neck, dizziness, and light-headedness. She had experienced a single episode of severe nausea with vomiting. The headache worsened in the upright position.\nOn neurologic examination, the patient was awake, alert, and fully oriented. Her cranial nerves were grossly intact. She had no focal motor, sensory, or cerebellar deficits. Fundoscopic examination revealed no papilledema. Physical exam findings consistent with Marfan syndrome included dolichostenomelia and arachnodactyly, and her cardiovascular examination confirmed a mechanical aortic valve. The remainder of her exam was noncontributory. The patient's INR was 4.2, consistent with warfarin anticoagulation. All other laboratory tests were within normal limits.\nImaging of the brain demonstrated mild dilatation of the lateral ventricles with crowding of the gyri, and inferior displacement of the posterior fossa structures, with the cerebellar tonsils extended below the level of the foramen magnum []. An atrial diverticulum was noted as a medial out-pouching of the trigone of the left lateral ventricle [].\nNeurosurgery was consulted to evaluate the patient. She was admitted to the neurosurgical intensive care unit for monitoring and repeat imaging to rule out worsening ventriculomegaly. The suspicion of SIH due to tonsillar herniation in the setting of diagnosed Marfan syndrome prompted empiric treatment with intravenous hydration and keeping the patient flat for 48 hours. Warfarin anticoagulation was stopped to prepare for the possibility of an urgent intervention and an intravenous heparin drip was started the following day. Repeat CT was stable, the patient's symptoms declined steadily, and gradual elevation of the head of the bed was tolerated.\nAs the patient was anticoagulated for a mechanical aortic valve, she was considered ineligible for LP to evaluate opening pressure or administer contrast for conventional myelography. Correspondingly, definitive evaluation was completed via noninvasive MR myelography and spinal MRI [Figure and ]. Multiple sacral and thoracic root sleeve cysts and paraspinal thin bands of CSF were observed in the left thoracic region, consistent with CSF extravasation [Figure and ]. DE was noted at multiple levels from L3-S2, with positive findings by Oosterhof's, Ahn's, and Söylen's criteria []. Of note, the patient also had a significant scoliotic deformity, which may have introduced a degree of error into applying these metrics.\nGiven the resolution of the patient's symptoms under conservative management, no further interventions were required. During her hospital course the patient suffered a silent myocardial infarction, but she was ultimately discharged home without additional complications. She has remained free of orthostatic headaches for 15 months since this event.