Case report| Volume 61, P264-266, March 2019

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Acute necrotizing encephalopathy and a carnitine palmitoyltransferase 2 variant in an adult

Published:November 20, 2018DOI:


      • 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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        • Woeltje K.F.
        • Esser V.
        • Weis B.C.
        • et al.
        Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system.
        J Biol Chem. 1990; 265: 10714-10719
        • Shinohara M.
        • Saitoh M.
        • Takanashi J.
        • et al.
        Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.
        Brain Dev. 2011; 33: 512-517
        • Weng W.C.
        • Peng S.S.
        • Lee W.T.
        Acute necrotizing encephalopathy of childhood with spinal cord involvement: a case report.
        J Child Neurol. 2010; 25: 1530-1541
        • Mizuguchi M.
        Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan.
        Brain Dev. 1997; 19: 81-92
        • Yao D.
        • Mizuguchi H.
        • Yamaguchi M.
        • et al.
        Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
        Hum Mutat. 2008; 29: 718-727
        • Yao M.
        • Cai M.
        • Yao D.
        • et al.
        Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
        PLoS ONE. 2015; 10e0119936
      1. rs2229291 on NCBI. Available at: Accessed April 17, 2018.