Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Riboflavin transporter deficiencies (RTDs), involving We retrospectively collected clinical, biological and electrophysiological data from all French RTD patients with MN onset after 10 years of age (n=6) and extracted data from 19 other similar RTD patients from the literature. Adult RTD patients with MN had heterogeneous clinical presentations, potentially mimicking amyotrophic lateral sclerosis or distal hereditary motor neuropathy (56%), multinevritis with cranial nerve involvement (16%), Guillain-Barré syndrome (8%) and mixed motor and sensory neuronopathy syndromes (20%, only in Whereas late-onset RTD may mimic different acquired or genetic causes of motor neuropathies, it is a diagnosis not to be missed since high-dose riboflavin per oral supplementation is often highly efficient.

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Competing interests: YN received speech honoraria from Actelion and Orphan Europe, and received travel funding from Actelion, Shire and Genzyme.