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Background <p>X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), caused by pathogenic variants in GJB1 encoding connexin 32, is primarily an inherited peripheral neuropathy. A minority of patients develop transient central nervous system (CNS) dysfunction with reversible white matter lesions, which may mimic acute paediatric stroke. Triggers such as fever, infection and exercise have been reported, but allergy-related exposure has rarely been discussed and causal mechanisms remain uncertain.</p> Case presentation <p>A 9-year-old boy developed acute left-sided weakness, dysarthria and central facial-tongue paresis shortly after pollen exposure. Cranial magnetic resonance imaging (MRI) showed symmetrical diffusion-restricted lesions involving the corpus callosum and bilateral centrum semiovale, with high signal on diffusion-weighted imaging (DWI), corresponding low apparent diffusion coefficient (ADC) values and hyperintensity on T2 fluid-attenuated inversion recovery (FLAIR). Magnetic resonance angiography (MRA), magnetic resonance venography (MRV), cerebrospinal fluid (CSF) studies, autoimmune encephalitis antibodies and oligoclonal bands were unremarkable. Neurological deficits resolved within 12 h. Nerve conduction studies showed mild mixed sensorimotor polyneuropathy with demyelinating features and partial axonal involvement. Serial MRI showed progressive resolution, and diffusion tensor imaging (DTI) demonstrated no obvious displacement, interruption or reduction of major white matter tracts. Whole-exome sequencing and Sanger validation identified a hemizygous GJB1 c.623 A &gt; G (p.Glu208Gly, p.E208G) variant in the proband; his mother was heterozygous and his brother was hemizygous. No recurrent stroke-like episode occurred during 2 years of follow-up, although reduced tendon reflexes persisted.</p> Conclusions <p>In children with acute stroke-like episodes and reversible white matter lesions, the coexistence of pes cavus, reduced tendon reflexes or abnormal nerve conduction should prompt evaluation for GJB1-related CMTX1. Pollen exposure was temporally associated with the episode in this patient, but an allergic mechanism remains unproven because allergy-specific biomarkers and cytokines were not obtained during the acute phase.</p>

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Pediatric stroke-like episodes temporally associated with pollen exposure in GJB1-related CMTX1: an expanded family case report with serial MRI and DTI follow-up

  • 期刊论文

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  • 发表日期：

    2026年7月21日

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  • Teng Yao,
  • Yuanrui Li,
  • Yajing Cheng,
  • Xiangyu Chen,
  • Ganqin Du

摘要

Background

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), caused by pathogenic variants in GJB1 encoding connexin 32, is primarily an inherited peripheral neuropathy. A minority of patients develop transient central nervous system (CNS) dysfunction with reversible white matter lesions, which may mimic acute paediatric stroke. Triggers such as fever, infection and exercise have been reported, but allergy-related exposure has rarely been discussed and causal mechanisms remain uncertain.

Case presentation

A 9-year-old boy developed acute left-sided weakness, dysarthria and central facial-tongue paresis shortly after pollen exposure. Cranial magnetic resonance imaging (MRI) showed symmetrical diffusion-restricted lesions involving the corpus callosum and bilateral centrum semiovale, with high signal on diffusion-weighted imaging (DWI), corresponding low apparent diffusion coefficient (ADC) values and hyperintensity on T2 fluid-attenuated inversion recovery (FLAIR). Magnetic resonance angiography (MRA), magnetic resonance venography (MRV), cerebrospinal fluid (CSF) studies, autoimmune encephalitis antibodies and oligoclonal bands were unremarkable. Neurological deficits resolved within 12 h. Nerve conduction studies showed mild mixed sensorimotor polyneuropathy with demyelinating features and partial axonal involvement. Serial MRI showed progressive resolution, and diffusion tensor imaging (DTI) demonstrated no obvious displacement, interruption or reduction of major white matter tracts. Whole-exome sequencing and Sanger validation identified a hemizygous GJB1 c.623 A > G (p.Glu208Gly, p.E208G) variant in the proband; his mother was heterozygous and his brother was hemizygous. No recurrent stroke-like episode occurred during 2 years of follow-up, although reduced tendon reflexes persisted.

Conclusions

In children with acute stroke-like episodes and reversible white matter lesions, the coexistence of pes cavus, reduced tendon reflexes or abnormal nerve conduction should prompt evaluation for GJB1-related CMTX1. Pollen exposure was temporally associated with the episode in this patient, but an allergic mechanism remains unproven because allergy-specific biomarkers and cytokines were not obtained during the acute phase.