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Case Reports
. 2024 Jul 11;16(7):e64335.
doi: 10.7759/cureus.64335. eCollection 2024 Jul.

Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation

Ali Almarzooqi  1
Affiliations
Case Reports

Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation

Ali Almarzooqi. Cureus. .

Abstract

This case report presents a 23-year-old male diagnosed with Charcot-Marie-Tooth (CMT) disease, who exhibited additional neurological symptoms suggestive of leukodystrophy. The patient experienced recurrent episodes of slurred speech, imbalance, and a recent tonic-clonic seizure, prompting admission. Neurological examination and imaging revealed bilateral white matter changes, raising suspicion of leukoencephalopathy. Further investigations confirmed a nonsense mutation c.64C>T (p.Arg22*) in the gap junction beta 1 (GJB1) gene. This case underscores the complexity of Charcot-Marie-Tooth disease type 1 (CMTX1) with atypical central nervous system (CNS) manifestations, highlighting the importance of comprehensive diagnostic evaluations and a multidisciplinary approach to management.

Keywords: cerebral leukodystrophy; charcot marie tooth disease; charcot-marie-tooth disease type x; new-onset seizure; peripheral neuropathy; white matter lesions; x-linked genetic diseases.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. FLAIR hyperintense lesions.
The FLAIR MRI sequence, axial cut, shows white matter hyperintense lesions, as indicated by the arrows. FLAIR: Fluid-attenuated inversion recovery.
Figure 2
Figure 2. DWI hyperintense lesions.
The diffusion-weighted imaging (DWI) showed hyperintense lesions, as indicated by the arrows.
Figure 3
Figure 3. ADC hypointense lesions.
The arrows indicate hypointense lesions on the apparent diffusion coefficient (ADC) map.
Figure 4
Figure 4. The EEG above shows intermittent slowing of generalized delta-theta activity.
See this image and copyright information in PMC

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