Kevin S. Batti, MD
Resident Physician
Montefiore Medical Center
New Rochelle, New York, United States
Bryan Le, MD
Assistant Professor
Montefiore Medical Center
Bronx, New York, United States
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare, autosomal recessive disorder that belongs to a category of conditions known as Neurodegeneration with Brain Iron Accumulation (NBIA). It presents with central nervous system degradation, dystonia, and cognitive decline.
Case Description: A 37-year-old female with Pantothenate Kinase-Associated Neurodegeneration (PKAN) presented to our physiatry office for sialorrhea management. Her symptoms began at age 18 and progressed to complete caretaker dependence, though she was fully independent before. Recently, her mother reported frequent choking due to increased salivation. Physical examination revealed severe limb spasticity, flexor posturing in the upper extremities, nystagmus, brisk reflexes, and clonus at the ankles and knees. Botulinum toxin (25U) was injected into the bilateral submandibular and parotid glands, resulting in improved sialorrhea. The patient had a Modified Ashworth Score (MAS) of 3 in elbow and wrist flexors and 2 in finger flexors. She was treated with botulinum toxin to the bilateral wrist and elbow flexors with a palliative focus as well as emphasizing maintaining skin hygiene.
Discussions:
Management of this rare disease focuses on improving functional outcomes to enhance patient comfort, safety, and reduce caregiver fatigue. As PKAN progresses, patients experience severe motor impairments, including dystonia, parkinsonism, and gait disturbances, leading to complete dependence on caregiver support. Caregiving’s relentless nature can cause burnout, marked by physical exhaustion and emotional fatigue, adversely affecting care quality. Many PKAN patients eventually become wheelchair or bed-bound.
Conclusions:
Physiatrists play a crucial role in improving functional outcomes for PKAN patients by developing and implementing tailored rehabilitation programs, executing interventional modalities, and connecting patients with resources that aim to manage spasticity and enhance overall quality of life. Ultimately, physiatrists can provide appropriate palliative interventions crucial not only for the well-being of the caregiver, but also for optimizing the care and quality of life of patients with PKAN.
