Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy

X‐linked cerebral adrenoleukodystrophy is an aggressive, rapidly progressive disorder resulting in considerable morbidity and, left untreated, mortality. Patients typically present before the age of 10 years with progressive symptomatology including ataxia, spasticity, and focal neurological deficits. Current therapeutic options are limited, the treatment of choice being haemopoietic stem cell transplantation (HSCT). Intervention is beneficial to those children with early disease and characteristic magnetic resonance (MR) imaging changes. Developments in MR imaging have led to the incorporation of MR spectroscopy in the assessment tools; however, it is yet to be included in stratified assessment tools to guide treatment choice. Furthermore, there remains a paucity of outcome data on MR spectroscopy changes following HSCT. We describe our experience in two males with confirmed cerebral adrenoleukodystrophy treated, at the mean age of 5 years 6 months, with HSCT and report the pronounced spectroscopic changes observed following treatment. Both children, observed for a minimum period of 14 months following treatment, demonstrate complete reversal in previously deteriorating spectroscopy with marked increase in N‐acetyl‐aspartate (NAA)/choline (Cho) ratios and reduction in Cho/creatine (Cr) ratios following HSCT treatment with concomitant stabilization of clinical status.