A Case Series of Unilateral Peripheral Neuropathy

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Peripheral neuropathies exhibit diverse phenotypes, including symmetrical, non-length-dependent, and asymmetric forms.
• Unilateral neurological deficits are typically associated with central nervous system pathology, making peripheral causes rare.
• Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders affecting peripheral nerves.

Observation:

• Three unrelated individuals presented with a slowly progressive, unilateral peripheral neuropathy.
• Onset occurred in early childhood, with no family history or central nervous system lesions.
• Neurophysiology indicated axonal neuropathy in two cases and demyelinating neuropathy in one.

Findings:

• Genetic testing for common Charcot-Marie-Tooth disease (CMT) genes in blood DNA was negative.
• The unilateral and progressive nature of the neuropathy is an unusual phenotype.
• The study highlights a potential link between this rare presentation and mosaicism or chimerism in CMT.

Implications:

• This study suggests mosaic or chimeric forms of Charcot-Marie-Tooth disease (CMT) as a potential cause for unilateral peripheral neuropathy.
• Further research into genetic mosaicism is warranted for diagnosing rare neurological disorders.
• Understanding these rare phenotypes can improve diagnostic approaches and patient management for peripheral neuropathies.