The presence of acanthocytosis, in addition to myopathy, polyneuropathy, and chorea, suggests a neuroacanthocytosis syndrome (i.e., chorea–acanthocytosis and McLeod syndrome, which were excluded in this case); dilated, but not hypertrophic, cardiomyopathy is typical in McLeod syndrome.7 One case of MELAS has been reported to be associated with acanthocytosis.8 We propose that ELAC2 should be added to the list of potential causes of neuroacanthocytosis syndromes. Here, ELAC2 is linked to Constitutional hemolytic anemia due to acanthocytosis.