Neuroacanthocytosis in a psychiatry clinic: a case report

Abstract

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by peripheral blood acanthocytes, central nervous system as well as neuromuscular symptoms. The clinical presentation of neuroacanthocytosis typically includes chorea and dystonia. Psychiatric and cognitive symptoms may be significant including obsessive-compulsive disorder, depression and schizophrenia-like psychosis. Here, we aim to discuss a case presented with psychiatric symptoms and orofacial dyskinesia with the diagnosis of neuroacanthocytosis. A 25 year-old man was admitted to our outpatient clinic with depression, tongue biting and a speech disorder alleviated. His symptoms began after the death of his mother one year ago. Psychiatric examination showed that he had depression childish speaking as well as behavioral abnormalities. His history revealed dependent personality disorder. Neurological examination showed chorea, tics in his face and arms and hypotonia in all extremities. His cranial magnetic resonance imaging was normal, muscle enzymes were elevated, peripheral blood smear showed increased number of acanthocytes. The differential diagnosis was made between chorea-acanthocytosis, McLeod's syndrome and Huntington's disease. The gene analysis for Huntington's disease was negative, his lipid profile was normal. Symptomatic treatment was commenced.