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Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves
Author(s) -
Ripellino Paolo,
Ventura Elisa,
Querol Luis,
Gobbi Claudio
Publication year - 2021
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12445
Subject(s) - chronic inflammatory demyelinating polyneuropathy , medicine , pathology , polyneuropathy , muscle hypertrophy , nerve conduction velocity , cerebrospinal fluid , ataxia , nerve conduction study , nerve root , anatomy , nerve conduction , antibody , psychiatry , immunology
We describe the distinctive features (with images and video) of a case of chronic inflammatory demyelinating polyneuropathy (CIDP) with giant nerves. The main clinical findings were insidious onset, gait ataxia and sensory symptoms. Electrodiagnostic studies showed very slow nerve conduction velocities, multiple conduction blocks, distal CMAP duration increase and absence of F‐waves. The protein level in the cerebrospinal fluid was very high. Nerve ultrasound showed swelling of all peripheral nerves outside entrapment sites, with significant variability within different segments of the same nerve; nerves were massively enlarged (up to 10‐fold normal values). Brain MRI showed hypertrophic cranial nerves, with gadolinium‐enhancement. Spinal MRI showed hypertrophy of spinal roots and cauda equine, with gadolinium enhancement. Genetic test (PMP22 duplication/deletion, Whole Exome Sequencing panel for neuropathies) resulted negative. The patient had a relapsing‐remitting course and responded to immunoglobulin treatment. In CIDP with hypertrophic nerves, there is discrepancy between severe nerve hypertrophy and mild clinical symptoms. Nerve enlargement seems inversely related to nerve conduction velocity and directly correlated with disease duration, but not associated with disease severity.