- •CPT2 variants have been reported to be associated with acute necrotizing encephalopathy.
- •The patient was p.F352C (heterozygous) and p.V368I (homozygous) variants of CPT2.
- •Persistent high fever and long-term fasting can develop acute necrotizing encephalopathy in adult.
- •The lesions on MRI may extend to spinal cord.
A 54-year-old Japanese man had a fever of over 40 °C for 7 days and developed unconsciousness, seizure and respiratory arrest. T2-weighted imaging magnetic resonance imaging revealed high-intensity signals on bilateral thalamus and it gradually extended to the brain white matter. Moreover, the lesion progressed to the spinal gray matter. The patient was diagnosed with acute necrotizing encephalopathy. CPT2 variants have been reported to be associated with acute necrotizing encephalopathy particularly in children and spinal cord lesions are extremely rare. We report a case of ANE in an adult with a CPT2 variant who developed spinal cord lesions.
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rs2229291 on NCBI. Available at: http://www.sanger.ac.uk. Accessed April 17, 2018.
Published online: November 20, 2018
Accepted: November 12, 2018
Received: October 9, 2018
© 2018 Elsevier Ltd. All rights reserved.