FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.

ABSTRACT:

Background and aims

Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients.

Methods

Clinical, neurophysiological, and gene

SUBMITTER: Masnada S 

PROVIDER: S-EPMC10096094 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature