(Kiosk 6) Stem Cell Therapy in the Case of x‐linked Adrenoleukodystrophy and Trisomy 21: A Pediatric Rehabilitation Case Report

Case Diagnosis: Rehabilitation of a pediatric patient with x-linked adrenoleukodystrophy and trisomy 21 including unrelated cord blood transplant, PT, ST, bracing, and medication management.

Case Description or Program Description: We present a case of a 6 year old male with pertinent PMH of complete trisomy 21 and cerebral X-linked adrenoleukodystrophy (X-ALD) s/p unrelated cord blood transplant (UCBT). At 3 years of age, patient began having an abnormal gait that started with the right lower extremity and progressed to the left without cognitive impairment or upper extremity weakness. Genetic testing revealed X-ALD confirmed by elevated very-long-chain fatty acids. Brain MRI showed evidence of demyelination with a Loes of 5.5 but abnormal signal in anterior internal capsules had progressed and family proceeded with UCBT. Transplant was done at age 5 and follow up since has included regular heme/onc, pmr, pt, st visits. Pt taking diazepam 1.5mL BID, hydrocortisone 5mg TID, along with GvHD and Htn medications. Pt has since shown multi-system functional improvement or stability.

Setting: Inpatient+outpatient

Assessment/Results: X-ALD has been stable for 15 months - weekly CBCs and IgG WNL, most recent MRIs reveal improved Loes score to 4.5 (previously 5.5). Lansky Performance Score stable at 90%. Hips, knees, and ankle mobility improved. Spine curvature has improved. Cognition subjectively improved. Communication improved with expanded signing vocabulary. Mobility and balanced improved with increased ambulation.

Discussion (relevance): Without treatment, most children with childhood cerebral ALD will die within 2 to 5 years of onset of symptoms. This patient's functional stability and improvements highlight the potential of UCBT and interdisciplinary rehabilitation to halt the progression of X-ALD including those with trisomy 21. Further research should continue to explore transplant and rehabilitation outcomes for those with significant comorbidities.

Conclusions: This case study suggests that UCBT and multi-disciplinary rehabilitation is effective in halting disease progression in a pediatric cerebral X-ALD case with trisomy 21.