Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.
Giulia Ferrera, Federica Invernizzi, Manuela Spagnolo et al.
✦ AI-curated · Sources linked
Case in brief
Two patients with genetically confirmed complex I deficiency due to NDUFS1 and NDUFV2 variants presented with acute psychomotor regression and extensive white matter lesions. Treatment with high-dose riboflavin (up to 10 mg/kg/day) led to rapid neurological recovery, normalization of lactate levels, improved evoked potentials, and MRI findings that remained stable over time, demonstrating the potential efficacy of riboflavin in this condition.
Diagnostic / clinical pearl
Clinicians should consider riboflavin therapy in patients with complex I deficiency, particularly those with N-module subunit variants, as it may lead to significant neurological improvement.
Why it matters
This case adds to the growing evidence supporting riboflavin's potential benefits in mitochondrial leukoencephalopathy, highlighting the need for further prospective studies to establish treatment guidelines.