An atypical presentation of MELAS syndrome

MELAS syndrome is classically presented as a mitochondrial encephalopathy complicated by lactic acidosis and recurrent strokes. However, this rare disease can have a more atypical presentation, as in the following observation reported by a Chinese team:

  • a 17 year old girl with no previous history of herpes had a clinical picture that initially suggested herpetic encephalopathy;
  • the combination of a febrile syndrome, disturbance of consciousness and compatible images on brain imaging could have been suggestive;
  • the non-response to antiviral treatment, atypia on imaging and the persistence of lactic acidosis in the blood raised doubts about the initial diagnosis;
  • the diagnosis of MELAS was finally confirmed by molecular biology (3243 A>G mutation).

 

Zeng WG, Liao WM, Hu J, Chen SF, Wang Z. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report. Radiol Case Rep. 2022 May 8;17(7):2428-2431.