Demyelinating Sensorimotor Polyneuropathy in a Pediatric Patient with a KIF1B Variant: A Case Report

CASE REPORT
Armand Shehu, Anita Pilika, Aida Bushati, Kristi Aleksi, Xhentila Doka, Era Kurti, Era Shehu

 

For citation: Shehu A, Pilika A, Bushati A, Aleksi K, Doka X, Kurti E, Shehu E. Demyelinating Sensorimotor Polyneuropathy in a Pediatric Patient with a KIF1B: A Case Report. International Journal of Biomedicine. 2026;16(3):398-400. doi:10.21103/Article16(3)_CR3

Originally published September 5, 2026

Abstract: 

Sensorimotor polyneuropathies in childhood comprise a clinically and etiologically heterogeneous group of peripheral nerve disorders. They are commonly associated with progressive motor and sensory impairment, balance and gait disturbances, musculoskeletal deformities, reduced functional independence, and overall long-term disability. Herein, we present a diagnostically challenging case of a 13-year-old boy with a demyelinating electrophysiological profile, despite identification of a genetic variant previously associated with an axonal, non-demyelinating form of peripheral sensorimotor neuropathy.

Keywords: 
Charcot-Marie-Tooth • KIF1B • demyelinating sensorimotor polyneuropathy
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Received June 22, 2026.
Accepted August 8, 2026.
© 2026 The Author(s). International Journal of Biomedicine is published by IMRDC. This is an open access article under the CC BY-NC-ND 4.0 license.