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Acute necrotizing myelitis and acute motor axonal neuropathy in a COVID-19 patient.

ABSTRACT: A 61-year-old woman with COVID 19 infection developed acute necrotizing myelitis (ANM) and acute motor axonal neuropathy (AMAN), a rare variant of Guillain-Barré syndrome (GBS) without systemic signs of infection. MRI of the cervical spine demonstrated longitudinally extensive transverse myelitis, and EMG was consistent with the diagnosis of AMAN. CSF testing was negative for SARS-CoV-2. High dose steroids followed by plasma exchange were administered, and the patient made a clinical recovery. Immunotherapy has some role in fastening the improvement of immune-mediated neurological conditions associated with COVID-19.

SUBMITTER: Maideniuc C

PROVIDER: S-EPMC7415129 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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RETRACTED ARTICLE: Acute necrotizing myelitis and acute motor axonal neuropathy in a COVID-19 patient.

Maideniuc Catalina C Memon Anza B AB Memon Anza B AB

Journal of neurology 20200809 2

PMID: 32772172

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Project description:ImportancePatients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes for very rare disorders, enabling a molecular diagnosis. Genomics is also revealing a phenotypic expansion whereby the full spectrum of clinical expression conveyed by mutant alleles at a locus can be better appreciated.ObjectiveTo elucidate the molecular cause of a complex neuropathy phenotype in 3 patients by applying genomic sequencing strategies.Design, setting, and participantsThree affected individuals from 2 unrelated families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly. They were recruited into the Centers for Mendelian Genomics research program to identify the molecular cause of their phenotype. Whole-genome, targeted whole-exome sequencing, and high-resolution single-nucleotide polymorphism arrays were performed in genetics clinics of tertiary care pediatric hospitals and biomedical research institutions.Main outcomes and measuresWhole-genome and whole-exome sequencing identified the variants responsible for the patients' clinical phenotype.ResultsWe identified compound heterozygous alleles in 2 affected siblings from 1 family and a homozygous nonsense variant in the third unrelated patient in the vaccinia-related kinase 1 gene (VRK1). In the latter subject, we found a common haplotype on which the nonsense mutation occurred and that segregates in the Ashkenazi Jewish population.Conclusions and relevanceWe report the identification of disease-causing alleles in 3 children from 2 unrelated families with a previously uncharacterized complex axonal motor and sensory neuropathy accompanied by severe nonprogressive microcephaly and cerebral dysgenesis. Our data raise the question of whether VRK1 mutations disturb cell cycle progression and may result in apoptosis of cells in the nervous system. The application of unbiased genomic approaches allows the identification of potentially pathogenic mutations in unsuspected genes in highly genetically heterogeneous and uncharacterized neurological diseases.

Dataset Information

Acute necrotizing myelitis and acute motor axonal neuropathy in a COVID-19 patient.

Publications

RETRACTED ARTICLE: Acute necrotizing myelitis and acute motor axonal neuropathy in a COVID-19 patient.

Similar Datasets

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