Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient

Makoto Takemaru, M.D.1), Yutaka Shimoe, M.D., Ph.D.1), Kota Sato, M.D., Ph.D.1)3), Akihiro Hashiguchi, M.D., Ph.D.2), Hiroshi Takashima, M.D., Ph.D.2) and Masaru Kuriyama, M.D., Ph.D.1)

1)Department of Neurology, Brain Attack Center, Ota Memorial Hospital
2)Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences
3)Present address: Department of Neurology, Okayama University Hospital

A 32-year-old woman showed transient central type facial nerve palsy and bulbar symptoms. Brain MRI revealed high intensity signals in the cerebral white matter, splenium of corpus callosum, and posterior limb of internal capsule. Two elder brothers of the patient had distal dominant peripheral neuropathies in four limbs. In this family, the point mutation of GJB1 gene, encoding connexin 32, was revealed and X-linked Charcot-Marie-Tooth disease (CMTX1) was diagnosed. The presented case was a heterozygote of this mutation. She showed severe transient central nervous system (CNS) symptoms and subclinical demyelinating peripheral neuropathy. The CNS symptoms and alterations of brain images were very similar among three siblings. There are many reports on male patients with CMTX1 who show associated CN symptoms, but female patients are very rare. There has been no previous report of a CMTX1 patient similar to the patient presented here. The trigger factors have been recognized at the onset of transient CN symptoms in these cases. The prevention of these factors is important for the management of such patients.
Full Text of this Article in Japanese PDF (635K)

(CLINICA NEUROL, 58: 302－307, 2018)
key words: X-linked Charcot-Marie-Tooth disease, GJB1 gene, transient central nervous manifestation, cerebral white matter lesions, trigger factors

(Received: 12-Jan-18)