Rinsho Shinkeigaku (Clinical Neurology)

Case Report

An autopsy case of coexisting Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyradiculoneuropathy, later associated with amyotrophic lateral sclerosis

Yujiro Higuchi, M.D.1)2), Yusuke Sakiyama, M.D.1)2), Yasushi Nishihira, M.D.1)3), Kazuhiro Endo, M.D.1)3), Shugo Suwazono, M.D.1) and Masahito Suehara, M.D.1)

1)Department of Neurology, National Hospital Organization Okinawa Hospital
2)Department of Neurology, Kagoshima University Graduate School of Medical and Dental Sciences
3)Department of Neurology, Yuuaikai Tomishiro Central Hospital

We report an autopsy case of a 74-year-old man with late onset Charcot-Marie-Tooth disease type 1 A (CMT1A) diagnosed by genetic screening, later associated with amyotrophic lateral sclerosis (ALS). At the age of 70 years, the patient was admitted to our hospital because of progressive weakness and dysesthesia in the right upper limb. In the early stages of the illness, he was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and transient improvement was achieved with intravenous immunoglobulin. However, the symptoms progressively worsened and became refractory. Gene analysis revealed PMP22 gene duplication, which confirmed CMT1A. On sural nerve biopsy, severe demyelinating neuropathy and abundant onionbulb formations with endoneurial infiltration of inflammatory cells were observed. Thereafter, pseudo-bulbar palsy and respiratory muscle weakness developed insidiously and progressed rapidly along with muscle weakness in the limbs and trunk. The patient died about four years after the onset of this disease. Postmortem examination showed moderate neuronal cell loss, Bunina bodies, and TDP-43-positive inclusions in the anterior horn cells. The spinal cord revealed axonal loss and extensive macrophage permeation in the corticospinal tracts. On the basis of these findings, the final neuropathological diagnosis was ALS. This is the first report of an autopsy case of CMT1A complicated with ALS. We here discuss the significant clinical and neuropathological findings of this case.
Full Text of this Article in Japanese PDF (1235K)

(CLINICA NEUROL, 52: 750|756, 2012)
key words: Charcot-Marie-Tooth disease type 1A, PMP22 duplication, chronic inflammatory demyelinating polyradiculoneuropathy, amyotrophic lateral sclerosis, autopsy

(Received: 1-Feb-12)