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 neuroacan- thocytosis 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 disor- der. 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 in- creased number of acanthocytes. The differential diagnosis was made between chorea-acanthocytosis, McLeod's syndrome and Huntington's disease. The gene analysis for Huntingtons disease was negative, his lipid profile was normal. Symptomatic treatment was commenced. (Anatolian Journal of Psychiatry 2015; 16(4):304-306)
Nöroakantositoz sendromlar periferik kan akantositlerin, merkezi sinir sisteminin yanı sıra nöromüsküler belirtiler ile karakterize, genetik olarak tanımlanan bir hastalık grubudur. Nöroakantositozun klinik görünümü tipik kore ve distoni içerir. Psikiyatrik ve bilişsel belirtiler obsesif kompulsif bozukluk, depresyon ve şizofreni benzeri psikoz da dahil olmak üzere önemli olabilir. Burada, psikiyatrik belirtiler ve nöroakantositoz tanısı ile orofasiyal diskinezi ile başvuran bir olgu tartışılmıştır. Yirmi beş yaşındaki bir erkek, depresyon, dilini ısırma ve hafifletilebilir bir konuşma bozukluğu yakınması ile polikliniğimize başvurdu. Belirtileri bir yıl önce annesinin ölümünden sonra başlamış. Psikiyatrik mua- yene, depresyonu ve çocuksu konuşmasının yanı sıra davranışsal anormallikler olduğunu gösterdi. Onun geçmişi bağımlı kişilik bozukluğu saptandı. Nörolojik muayenede tüm ekstremitelerde yüzünde ve kollarında ve hipotoni de kore, tikler gösterdi. Onun kranial manyetik rezonans görüntüleme normal, kas enzimleri yükselmiş idi, periferik kan yayması akantositlerin artan sayıda gösterdi. Ayırıcı tanı kore-akantositoz, McLeod'ın sendromu ve Huntington hastalığı arasında yapıldı. Huntington hastalığı için gen analiz onun lipid profili normal olduğunu, negatif oldu. Semp- tomatik tedavi başlandı. (Anadolu Psikiyatri Derg 2015; 16(4):304-306)
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