X-linked adrenoleukodystrophy is caused by a defective peroxisomal membrane transporter, ABCD1, responsible for transporting very-long-chain fatty acid substrate into peroxisomes for degradation. The main biochemical defect, which is also one of the major diagnostic hallmarks, of X-linked adrenoleukodystrophy is the accumulation of saturated very-long-chain fatty acids in all tissues and body fluids.
Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospective study involving 14 children with optic neuritis was performed at Hospital Universiti Sains Malaysia between July 2005 and January 2010 (follow-up, 18-60 months). Clinical features, laboratory results, possible etiologies, and visual acuity after 1 year were studied. Females were predominant (mean age at presentation, 11.1 years). All patients manifested bilateral involvement. Swollen optic discs were observed in 92.9% of eyes; 60.7% of patients demonstrated a visual acuity of 6/60 (or 20/200) or worse on presentation, whereas 14.3% remained at 6/60 (or 20/200) or worse, 1 year after their attack. Cecocentral scotoma comprised the most common visual field defect. Infection contributed to 50.0% of cases; 14.3% progressed to multiple sclerosis during follow-up, with no evidence of recurrent optic neuritis. The clinical profiles and etiologies of optic neuritis in Malay children differ slightly compared with other optic neuritis studies of Asian children. The frequency of progression to multiple sclerosis is relatively lower.