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  Neuroacanthocytosis: A Case Report [Turk J Neurol]
Turk J Neurol. 2006; 12(1): 59-64

Neuroacanthocytosis: A Case Report

Mustafa Yılmaz, Füsun Mayda Domaç, Handan Mısırlı, Pınar Topaloğlu, Nuri Yaşar Erenoğlu
Neurology Clinic 1, Haydarpasa Numune Education And Research Hospital, İstanbul, Turkey

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

Mustafa Yılmaz, Füsun Mayda Domaç, Handan Mısırlı, Pınar Topaloğlu, Nuri Yaşar Erenoğlu. Neuroacanthocytosis: A Case Report. Turk J Neurol. 2006; 12(1): 59-64

Corresponding Author: Füsun Mayda Domaç, Türkiye

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