Author

A. Elmesallami

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Review Open access Sep 2026

Late onset biotinidase deficiency presenting with optic neuropathy and multifocal motor neuropathy phenotype: a case report and literature review

This case highlights late-onset BTD as a diagnostic mimic of Leber hereditary optic neuropathy, neuromyelitis optica spectrum disorder, and MMN, and the presence of conduction block neuropathy expands the phenotypic spectrum of BTD.

Ahmed Dahshan, Abdullah Al Salti, A. Elmesallami et al. · Journal of Rare Diseases · 0 citations