Reversible inflammatory neuropathy superimposed on Charcot-Marie-Tooth type 1A disease
A 35-year-old woman with a duplication involving the PMP22 gene, diagnosed with Charcot-Marie-Tooth disease type 1A (CMT1A), noted leg weakness at the age of 8 years. Very gradual progression of weakness occurred till the age of 20 years, when the disease stabilized. During pregnancy at the age of 31 years, she experienced progressive leg weakness again, from which she did not recover. Later on, four stepwise episodes of lower-limb weakness without posterior improvement took place, and shortly afterwards, acute paralysis of extension of the right first toe occurred.
A neurological examination showed bilateral pes cavus, hammertoes, generalized areflexia, moderate amyotrophy of hands, legs and feet, and glove and stocking hypoesthesia. Muscle strength in tibialis anterior (TA), gastrocnemius and peroneal muscles bilaterally, and left extensor hallucis longus (EHL) was Medical Research Council grade 4/5; gluteus maximus, quadriceps, and psoas were 4-5/5, and right EHL was 0/5. The...
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The authors declare that they have no conflict of interest.
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