Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study

Background: Cerebrotendinous xanthomatosis is a rare autosomal-recessive lipid storage disorder causing an elevation in cholestanol and cholesterol levels and their deposition in the central nervous system and tendons with consequent posture and gait disturbances.

Methods: This report shows the case of a 36-year-old male affected by Cerebrotendinous xanthomatosis with static and dynamic instability. We aimed to provide an instrumented quantification of quiet upright standing using a piezoelectric force platform measuring the variations of center of pressure with the foot position 10 cm and 20 cm apart or extra-rotated with an opening angle of 30°, with eyes open or closed. The area of center of pressure and the length of its trajectory in the anterior-posterior and medial-lateral directions were computed. The temporal variability of center of pressure was evaluated by means of the Root Mean Square.

Findings: In comparison with a control group, the area, the trajectory length of center of pressure in anterior-posterior and medial-lateral directions and the temporal variability increased in all static conditions. Intra-patient comparison showed that foot position 10 cm apart was the position that most influenced stability causing a marked worsening of area and trajectory length of center of pressure in both anterior-posterior and medial-lateral directions, particularly for the eyes closed condition.

Interpretation: We found a large static instability due to internal neural and biomechanical constraints causing an insufficiency of ankle strategy. A physical therapy program based on instrumented proprioceptive exercises is to be implemented to teach the use of a hip strategy.