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A difficult case
Encephalopathy with Guillain-Barré syndrome: seek a different cause
  1. Fu Chuen Kon1,2,
  2. Nigel Hoggard3,
  3. Godfrey Gillett4,
  4. M Hadjivassiliou5
  1. 1 Queen Elizabeth Hospital King's Lynn NHS Foundation Trust, King's Lynn, UK
  2. 2 University of Cambridge, Cambridge, UK
  3. 3 Department of Infection, Immunity and Cardiovascular Disease, The University of Sheffield Faculty of Medicine Dentistry and Health, Sheffield, UK
  4. 4 Department of Clinical Chemistry and Inherited Metabolic Diseases, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  5. 5 Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr M Hadjivassiliou, Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, S10 2JF, UK; m.hadjivassiliou{at}sheffield.ac.uk

Abstract

A 30-year-old woman developed symptoms, signs and neurophysiology consistent with Guillain-Barré syndrome and was admitted to the neurosciences intensive care unit owing to respiratory compromise. Here, she received a clonidine infusion for agitation, complicated by a minor hypotensive episode, following which she became unconscious. MR scan of the brain showed changes compatible with hypoxic brain injury. Urinary amino acids showed increased urinary α-ketoglutarate. Genetic testing using whole-exome sequencing identified pathogenic variants in the SLC13A3 gene known to be associated with an acute reversible leukoencephalopathy with increased urinary α-ketoglutarate. The case highlights the importance of considering inborn errors of metabolism in cases of unexplained encephalopathy.

  • METABOLIC DISEASE
  • GUILLAIN-BARRE SYNDROME
  • CLINICAL NEUROLOGY

Data availability statement

Data are available on reasonable request.

http://dx.doi.org/10.1136/pn-2023-003725

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    Data availability statement

    Data are available on reasonable request.

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    Footnotes

    • Contributors FCK: contributed to manuscript writing, literature searching and data collection; NH: contributed to technical advice, and figure creation; GG: contributed to technical advice; MH: contributed to idea conception, proof-reading, guarantor for this manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally reviewed by Edward Needham, Cambridge UK.

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