Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Mar;46(2):332-336.
doi: 10.1080/10790268.2022.2033936. Epub 2022 Mar 2.

Spinal cord lesion mimicking a dysimmune myelitis revealing CANVAS syndrome

Emilia El Houjeiry  1 , Sarah Coudray  2 , Eric Thouvenot  1   3 , Ioana Maria Ion  1
Affiliations
Case Reports

Spinal cord lesion mimicking a dysimmune myelitis revealing CANVAS syndrome

Emilia El Houjeiry et al. J Spinal Cord Med. 2023 Mar.

Abstract

Context: Posterior spinal cord lesions are found in patients with ganglionopathy. These are normally found in later stages of the neuronopathy as a consequence of dorsal root ganglia degeneration. Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) is an emerging neurological disorder. Myelitis lesions have been described in confirmed CANVAS cases.

Findings: We describe a case of a 68-year-old woman with slowly progressive ataxia with paresthesia. Laboratory tests were normal. Total spine MRI showed a C4 posterior spinal cord lesion. Lumbar puncture was positive for oligoclonal bands with normal IgG index and protein level. Paraneoplastic antibodies were not detected. Electromyography showed nonlength dependent sensory neuropathy. The patient was treated with intravenous immunoglobulin for suspected dysimmune myelitis. Over 6 years, she progressively developed other neurological manifestations evoking CANVAS. Nerve conduction study showed isolated sensory impairment over the years and peripheral nerve ultrasound revealed abnormally small nerves. Further genetic testing confirmed the diagnosis.

Conclusion: This is the first case of CANVAS syndrome presenting initially with an isolated spinal cord lesion mimicking dysimmune myelitis. The purpose of this case report is to add to the current literature about this evolving neurological syndrome and to aid clinicians in their diagnostic approach in clinical practice.

Keywords: CANVAS; Myelitis; Neuronopathy; Peripheral nerve ultrasound.

PubMed Disclaimer

Figures

Figure 1
Figure 1
(a) Axial T2 FLAIR brain MRI showing non-specific white matter lesions (white arrow heads); (b,c) dorsal myelitis in sagittal STIR and T2WI spinal cord MRI (black arrows).
Figure 2
Figure 2
Peripheral nerves ultrasound showing pathologically small cross-sectional area in CANVAS nerves and normal cross-sectional area in control nerves (highlighted rectangles). (a) Right median nerve (middle third of the forearm); (b) left median nerve (middle third of the forearm); (c) right ulnar nerve (middle third of the forearm); (d) left ulnar nerve (middle third of the forearm).
See this image and copyright information in PMC

References

    1. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, et al. . Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 2019 Apr;51(4):649–658. - PMC - PubMed
    1. Gwathmey KG. Sensory neuronopathies: sensory neuronopathies. Muscle Nerve 2016 Jan;53(1):8–19. - PubMed
    1. Casseb RF, Martinez ARM, de Paiva JLR, França MC.. Neuroimaging in Sensory Neuronopathy: Neuroimaging in sensory neuronopathy. J Neuroimaging 2015 Sep;25(5):704–709. - PubMed
    1. Paisán-Ruiz C, Jen JC.. CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion. Brain 2020 Feb 1;143(2):386–390. - PubMed
    1. Pelosi L, Mulroy E, Leadbetter R, Kilfoyle D, Chancellor AM, Mossman S, et al. . Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study. Eur J Neurol 2018 Apr;25(4):659–665. - PubMed

Publication types