Cyancobalamine-deficiency polyneuropathy associated with nitrous oxide inhalation and thiamine-deficiency polyneuropathy in Charcot–Marie–Tooth disease type 1: two clinical cases

Objective. To demonstrate rare and combined forms of polyneuropathies resulting from vitamin deficiencies against the background of exogenous intoxication (nitrous oxide) and pre-existing hereditary pathology (Charcot–Marie–Tooth disease), emphasizing the reversible nature of symptoms with timely etiopathogenetic therapy.

Materials and methods. Two clinical observations of 27- and 29-year-old female patients with newly diagnosed polyneuropathies are presented. A comprehensive analysis of anamnestic data (occupational, toxicological, nutritional, family history), neurological status, laboratory parameters (vitamin B12, thiamine), electroneuromyography, and molecular genetic testing was performed.

Results. In the first case, a patient with occupational exposure to nitrous oxide was diagnosed with B12-deficiency polyneuropathy, confirmed by decreased cobalamin levels and macrocytic anemia. In the second case, against the background of chronic alcohol consumption, thiamine deficiency was detected; phenotypic features (foot deformity) and genetic testing results verified Charcot–Marie–Tooth disease type 1 (17p11 duplication, PMP22 gene). Prescribed replacement therapy (cyanocobalamin, thiamine) led to regression of paresthesia, improved sensitivity, and partial restoration of motor functions.

Conclusion. The presented cases illustrate the necessity of a systematic diagnostic approach for polyneuropathies, including assessment of acquired deficiency states even with confirmed genetic pathology. Timely correction of vitamin deficiency provides a significant clinical response and improves patients‘ quality of life.

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