Ann Clin Neurophysiol.  2021 Oct;23(2):130-133. 10.14253/acn.2021.23.2.130.

A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

• Kang M
• Hwang SJ
• Shin JH
• Kim DS

• KMID: 2521892
• DOI: http://doi.org/10.14253/acn.2021.23.2.130

Abstract

X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

Figure

• 

  Fig. 1. Serial brain magnetic resonance imaging findings. (A) Subcortical high-signal lesion on T2-weighted images (first attack in 2004; left image, red arrow). The signal disappeared after a few days (right image). (B-D) Similar reversible lesions (red arrows) were evident in T2-weighted images in (B) 2005, (C) 2006, and (D) 2011.

• 

  Fig. 2. Somatosensory evoked potentials of the median nerve showed prolonged absolute latencies to N9, N13, and N19 with normal interpeak latencies, suggesting a peripheral conduction defect.

Reference

1. Wang Y, Yin F. A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol. 2016; 31:761–772.

2. Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Neuromuscul Disord. 2006; 16:878–881.

3. Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, et al. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci. 2009; 29:4736–4749.

4. Al-Mateen M, Craig AK, Chance PF. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults. J Child Neurol. 2014; 29:342–348.

5. Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, et al. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2002; 73:304–306.

6. Kim JK, Han SA, Kim SJ. X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: a case report. Medicine (Baltimore). 2017; 96:e9176.