Mustafa Yılmaz, Füsun Mayda Domaç, Handan Mısırlı, Pınar Topaloğlu, Nuri Yaşar Erenoğlu

Neurology Clinic 1, Haydarpasa Numune Education And Research Hospital, İstanbul, Turkey

Keywords: neuroacanthocytosis, dystonia, Huntington disease


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.