Resident Montefiore - - New York, NY New York, New York, United States
Case Diagnosis: CAPOS syndrome, defined by cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss, is a rare autosomal dominant neurologic condition secondary to a mutation in the ATP1A3 gene. Deficits include difficulty with gait, balance and global developmental delay.
Case Description: A 5-year-old male with CAPOS syndrome was initially seen in clinic for equipment needs. His physical exam was significant for decreased axial and upper and lower extremity muscle tone. His gait was significant for a wide stance, and he had difficulty with standing up from a seated position. He also had difficulty with ambulation secondary to his inability to focus visually. The patient also had tightness in his bilateral hamstrings and gastrocnemius due to toe walking.
Discussions: The patient was prescribed several courses of PT and given equipment. Through the synergistic effects of physical therapy, a gait trainer, and a helmet, ambulation improved, and he avoided falls. Additionally, the tightness in his muscles improved with stretching of his heel cords. Children with CAPOS syndrome present with deficits at an early age and would benefit from early intervention with rehabilitation to help improve function and quality of life. Because this syndrome is so rare, little is known about effective rehabilitation strategies for patients living with CAPOS syndrome. Most existing data comes from case studies. For example, in one, a patient with CAPOS entered a rehabilitation program that offered Proprioceptive neuromuscular facilitation (PNF) and Frenkel’s coordination exercises and demonstrated functional improvement as defined by the FIM score. While many modalities have been proven for cerebellar deficits, there are no comprehensive programs for CAPOS.
Conclusions: The aim of the case is to highlight effective options that can alleviate debilitating symptoms and allow children with CAPOS to maximize their day-to-day function,with recognition that more research needs to be done.
