Neuroacanthocytosis: A Case Report

Abstract

The patient who had been treated symptomatically with the diagnosis of Huntington Disease was hospitalized in our clinic, got the diagnosis of neuroacanthocytosis with clinical findings and laboratory investigations was discussed in comparison with the literature. A 37-years-old male patient had speech disorder, gait disturbance and involuntary movements in face, neck, thrunk and extremities since 6 years duration. The patient has described an increment with all of his complaints over the last 2 years and neurological examination revealed facial tics, orofacial dyskinesia, choreiform movements in the distal parts of the extremities and dystonia in neck, thrunk and right leg. The patient had five generalized tonic clonic seizure at the last 2 years but he didn’t use any antiepileptic drugs. There was not any finding at cranial MRI. Presence of acanthocytosis at the peripheral blood, decrease of deep tendon reflexes, axonal peripheral neuropathy in electromyography, and increase in the levels of creatine phosphokinase in blood made us to leave the diagnosis of Huntington Disease. Neuroacanthocytosis must be remembered especially in the young adults with involuntary movements like chorea and dystonia in the differential diagnosis of Huntington Disease and must be investigated clinically and with laboratory in details

Keywords

• neuroacanthocytosis
• dystonia
• Huntington disease