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Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis

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Abstract

The term “acute transverse myelitis (ATM)” comprises various non-traumatic disorders that eventually can be associated with a focal myelopathy. Patients characteristically present with an acutely occurring paraparesis/plegia and require a comprehensive and timely diagnostic work up for the initiation of an appropriate treatment. We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia. Following an acute pulmonal infection, she rapidly (< 24 h) developed a severe quadriplegia (total motor score 38) with some facial sensory symptoms (perioral hypoesthesia). Magnetic resonance imaging (MRI) revealed a combination of longitudinal extensive transverse myelitis and symmetrical thalamic lesions. A work-up for infectious and systemic diseases was negative; specifically, no findings related to multiple sclerosis, neuromyelitis optica or vascular disorders. After empirical high dose steroid treatment and rehabilitation therapy, the patient gained almost normal gait and upper limb function. She was found to carry an autosomal-dominant missense mutation in the RANBP2 gene predisposing for ANE. Gene segregation was confirmed in other family members that had been affected by other episodes of acute steroid-responsive encephalopathies. We propose that a redefined diagnostic workup of ATM might include ANE1, as the frequency of this rare disorder might be underestimated.

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Acknowledgments

We thank the patient for her agreement into publishing her data and for her great support, especially in the establishment of her pedigree. The study was funded by the Swiss National Science Foundation and by the Clinical Research Priority Program Neuro-Rehab of the University of Zurich, Switzerland.

Conflicts of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Spinal Cord Injury Center, Balgrist University Hospital, Forchstr. 340, 8008, Zurich, Switzerland

    Katharina Wolf & Armin Curt

  2. Neuropediatric Department, Children’s Hospital, Lucerne, Switzerland

    Thomas Schmitt-Mechelke

  3. Department of Neuroradiology, University Hospital, Zurich, Switzerland

    Spyridon Kollias

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  1. Katharina Wolf
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  2. Thomas Schmitt-Mechelke
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  3. Spyridon Kollias
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  4. Armin Curt
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Correspondence to Katharina Wolf.

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Wolf, K., Schmitt-Mechelke, T., Kollias, S. et al. Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis. J Neurol 260, 1545–1553 (2013). https://doi.org/10.1007/s00415-012-6825-7

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