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

Abstract 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.