Cerebral Adrenoleukodystrophy: Characteristics of 10 Cases Including 6 Patients Without Neurologic Symptoms.

Abstract

The objective of this study is to present the characteristics of cerebral type adrenoleukodystrophy (cALD) and our hematopoietic stem cell transplantation (HSCT) experience in treating cALD. A retrospective analysis and summary of the clinical data pertaining to 10 patients after allogeneic HSCT (allo-HSCT) was conducted from June 2020 to October 2023. Six patients exhibited no neurological symptoms, and MRI of 5 cases revealed no abnormalities at the onset of the disease. The 3-year overall survival (OS) and event-free survival (EFS) rate was 90.0% (95% CI: 69.4-100.0) and 65.6% (95% CI: 35.6-98.4), respectively. Survival analysis showed unrelated donor choice was associated with a superior OS and EFS compared with related donor sources, but these differences were not statistically significant (P=0.414, 0.184). cALD patients without magnetic resonance imaging (MRI) abnormalities at the initial onset of the disease increased the OS compared with the patients with MRI abnormalities, and the OS of patients with NFS=0 was superior before HSCT to those with NFS ≥1, however, the differences were not significant. But the EFS was obviously superior to those cALD patients with abnormal MRI status (P=0.013) at the initial onset of the disease and neurological functional symptoms before HSCT (P=0.023). Early screening is necessary for children with a family history of suspected genetic diseases and atypical neurological symptoms to improve allo-HSCT outcomes.