1507 - A Case of Wyburn-Mason Syndrome in Acute Rehab

Case Diagnosis: Wyburn-Mason Syndrome

Case Description: Patient is a 31-year-old female with history of cerebral arteriovenous malformations status post multistage embolization, hydrocephalus status post endoscopic third ventriculostomy, prior stroke with residual right-sided weakness, and seizure disorder who presented from neurosurgery clinic due to left-sided headache and worsening right-sided weakness. Imaging revealed an acute left basal ganglia/thalamic hemorrhage with a large hematoma compressing the third ventricle alongside scattered cavernous malformations. Subsequent imaging revealed expansion of intracranial hemorrhage with midline shift managed with hypertonic saline. No neurosurgical intervention was pursued for risk of permanent neurologic deficit with evacuation. She completed acute inpatient rehab undergoing intense therapy while monitoring neurologic status with stable interval scans.

Discussions: Wyburn-Mason syndrome (WMS) is a rare congenital nonhereditary syndrome that typically presents with multiple arteriovenous malformations (AVM). WMS is extremely uncommon with less than 100 cases reported in the literature. Cerebral AVMs in WMS are often found in the midbrain with patients presenting with neurologic symptoms including seizures, headaches, hemiparesis, and hydrocephalus. In WMS, AVMs are relatively stable with embolization indicated in patients with intracranial hemorrhage. Prior to this hospitalization, the patient was without significant disability, reportedly modified independent with ADLs, including mobility and driving. On evaluation, she had global aphasia, right facial droop, 1/5 RUE, 2/5 R hip and knee but preserved left sided strength and intact sensations. After acute rehab course, she is now with 4/5 R shoulder abduction, 2/5 R hand grasp, 4/5 R hip and knee, and able to answer simple 2-3 word sentences.

Conclusions: Patients can present to acute inpatient rehabilitation with complex medical courses from uncommon diagnoses such as our case of Wyburn-Mason Syndrome. This case highlights the importance of coordinated care within an informed interprofessional rehabilitation team to improve functional outcome for a patient with a rare condition associated with high morbidity and mortality.