Coexistence of two chronic neuropathies in a young child: Charcot–marie–tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy

Abstract

We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

“…Marques et al 29 reported the case of an 18-month-old child with CMT1A who developed unexpectedly rapidly progressive weakness and disability. Electrophysiology showed non-uniform slowing.…”

An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)

“…Moreover, current diagnostic guidelines consider the presence of a hereditary demyelinating neuropathy as a diagnostic exclusion criterion for CIDP, 2 although several case reports for HNPP and other hereditary demyelinating neuropathies suggest otherwise. [6][7][8][9][10] Pain is atypical in hereditary neuropathies and its presence may therefore indicate coexisting inflammation. N-of-1 trials to assess the effects of immunomodulatory treatment may also help establish a diagnosis of coexisting inflammation and guide treatment for individual patients.…”

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

“…In addition, because several patients with inherited neuropathies were diagnosed initially with inflammatory demyelinating neuropathy, – cases like M19957 may be clinically useful for the diagnosis of superimposed CIDP on a background of CMT1A. Given these findings, it appears that coexistent inflammatory neuropathy is not genotype‐specific in CMT.…”