Rebecca Howard, MD
Resident Physician
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Jacob Hernandez, BA
Medical Student
Stony Brook School of Medicine
NYC, New York, United States
Jaskiran Ghuman, DO
Attending
Burke Rehabilitation Hospital
NY, New York, United States
A 43-year-old female with RVCL presents to acute rehabilitation with right-sided weakness and gait abnormalities, consistent with disease flare. She was diagnosed with RVCL 5 years prior with left-sided symptoms and a contrast enhancing mass on MRI with progression of disease since. Family history reveals multiple RVCL-related deaths. Prior to hospitalization she was independent in activities of daily living, and on admission to acute rehabilitation was moderate assistance of functional activities. The patient underwent multidisciplinary rehabilitation for 4 weeks, improving in all aspects of functional status. Rehabilitation course notable for anxiety and difficulty coping, requiring a capacity evaluation prior to discharge given her desires to go home at a functional status with high fall risk. Multidisciplinary engagement with psychological and recreational teams was crucial to help her optimize her recovery and reestablish a sense of control while facing end-of-life.
Discussions:
There is limited information about rehabilitation for patients with RVCL due to its rarity, with less than 200 documented diagnoses worldwide. Patients face significant challenges, with pneumonia being the most common cause of death, and a high risk of fatal falls in the ambulating population, including our patient. Without established disease-modifying treatments, this case underscores the value of inpatient rehabilitation to slow neurological and physical decline. The priority for our patient was to maintain independence as much as possible and optimize quality of life despite significant medical and psychological disabilities. Neuropsychology and recreational therapy were key aspects of the rehabilitation plan and helped manage the psychiatric manifestations of the disease and the challenges in adjusting to a progressive and debilitating disease. RVCL is a rare genetic condition with neurological manifestations that lead to significant functional decline. Patients benefit from a comprehensive rehabilitation approach which balances the goals of both the patient and the medical team.
Conclusions:
