ABSTRACT

Neuroacanthocytosis is a rare inherited disorder. Neuroacanthocytosis consists of a group of rare neurodegenerative disorders associated with acanthocytosis on the pheripheral blood smear. Neuroacanthocytosis is characterized by a subcortical type of dementia. Patients with neuroacanthocytosis may experience personality alterations of a frontal type (with apathy, irritability, or impulsiveness). Psychosis, obsessivecompulsive disorder, anxiety, and depression are less common. In this report, we aim to discuss a delayed diagnosed neuroacanthocytosis case with familial neurological features.

Keywords: Neuroacanthocytosis, chorea-acanthocytosis, orofacial dyskinesia