1433 - The Partial Locked-In Syndrome Paradox

Case Diagnosis: A 19-year-old female diagnosed with heterozygous prothrombin G20210A mutation suffered from a cardioembolic basilar artery ischemic stroke resulting in partial locked-in syndrome and demonstrated significant functional improvement after intensive inpatient rehabilitation.

Case Description: The patient initially presented with acute encephalopathy and concern for seizures requiring urgent intubation. CT angiogram showed subtotal occlusion of mid-to-distal basilar artery for which she underwent emergent thrombectomy. MRI Brain showed scattered posterior circulation infarcts including midbrain, pons, and medial thalami. Hematology diagnosed her with heterozygous prothrombin G20210A mutation. The mutation created hypercoagulable state via overproduction of factor II (prothrombin) and led to a paradoxical venous-to-arterial embolus that traveled through a patent foramen ovale causing a basilar ischemic stroke. Once medically stable, the patient transferred to a complex inpatient rehabilitation center. She presented with symptoms of partial locked-in syndrome including quadriparesis with left upper extremity spasticity, dysphagia requiring enteral feedings, dysconjugate gaze with inconsistent tracking, and only communicated through movement of right fifth digit. After five weeks of inpatient rehabilitation, she was able to eat a mechanical soft diet, articulate several words, and utilize a tilt-in-space wheelchair for mobility.

Discussions: Our patient suffered from partial locked-in syndrome with profound functional deficits, but she was initially not a candidate for inpatient rehabilitation due to her young age and lack of medical complexity. Literature has shown, however, that patients with partial locked-in syndrome who receive intensive inpatient rehabilitation have potential to emerge and regain significant function as demonstrated in this case. Therefore, further analysis into outcomes after inpatient stroke rehabilitation for young adults with the prothrombin G20210A mutation is required.

Conclusions: Physiatrists should be aware of the risk between prothrombin G20210A mutation and ischemic strokes in young adults. They should also maximize the potential for functional recovery if these patients suffer from strokes by advocating for acute, intensive inpatient rehabilitation.