Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation

Masataka Yamashiro, M.D.1), Keiko Ohnari, M.D.1), Yujiro Higuchi, M.D.2), Hiroaki Hashiguchi, M.D.2), Hiroshi Takashima, M.D.2) and Kazumasa Okada, M.D.1)

1) Department of Neurology, School of Medicine, University of Occupational and Environmental Health
2) Department of Neurology and Clinical Neuroscience, Kagoshima University Graduate School of Medical Science

The patient is a 44-year-old man. His parents are consanguineous. He experienced muscle weakness in his toe and distal tingling sensation in his feet at 42 years of age, which gradually progressed. Additionally, a marked cyanotic discoloration of the feet appeared and worsened progressively. Neurological examination revealed loss of tendon reflexes and distal muscle weakness in the lower extremities. Findings from nerve conduction studies indicated axonal polyneuropathy. Upon detection of the MME gene mutation, the patient was diagnosed with autosomal-recessive Charcot-Marie-Tooth disease 2T (ARCMT2T). In this case, cyanosis of the lower extremities possibly was associated with ARCMT2T, and it was suggested to be due to neprilysin deletion linked with the MME mutation. This represents the first documented occurrence of cyanosis as a distinctive feature of CMT with MME mutation.
Full Text of this Article in Japanese PDF (1280K)

(CLINICA NEUROL, 63: 743－747, 2023)
key words: MME mutation, Charcot-Marrie-Tooth disease, cyanosis, neprilysin

(Received: 6-Apr-23)