200 Section - Use of methylphenidate during acute inpatient rehabilitation of a patient with presumed adult onset metachromatic leukodystrophy

38 year old woman admitted to acute inpatient rehabilitation with presumed diagnosis of adult-onset metachromatic leukodystrophy (MCL)

Case Description:

Upon initial OT evaluation the patient required total assistance for feeding and maxA for all other ADLs. On PT evaluation the patient ranged from supervision to modA for mobility and ambulation, requiring careful supervision and frequent cues. Upon speech assessment, patient was determined to have severe cognitive-communication deficits. Considering patient’s inattention, lethargy, and slowness during therapies, the patient was started on methylphenidate on day 9 of her stay. Concluding her 11 day stay, the patient improved to supervision for eating, moderate assistance for bathing and lower body ADLs, and supervision to modI for mobility and ambulation. She remained at maxA for toileting and upper body dressing. While speech noted an increase in patient’s focus, orientation, and word finding, patient continued to be limited by moderate to severe cognitive impairment. Throughout her stay the patient remained incontinent to bowel and bladder.

Discussions:

MCL is a progressive demyelinating disease that is caused by deficient activity of the lysosomal enzyme arylsulfatase. All documentation on treatments for MCL involve gene therapies and enzyme replacement therapy. Methylphenidate is a drug that has been documented to improve attention and alertness in TBI patients.

Conclusions:

In the case of this patient there were some improvements to mobility, ADLs, and cognition at the conclusion of an acute rehabilitation stay with methylphenidate initiated at day 9 of 11. The short trial of methylphenidate along with the minimal to moderate improvement in patient functional outcomes both before and after treatment make it difficult to determine the overall efficacy of treatment with methylphenidate for patients with adult-onset MCL. However, the lack of documented rehabilitation treatments for MCL coupled with the improvements that were witnessed make this a worthwhile area of further investigation.