An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder

Abstract

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) (previously called Hallervorden-Spatz disease) is an autosomal recessive neurodegenerative disorder that is characterized by pyramidal and extrapyramidal findings. We describe a 15-year-old Turkish male with an atypical form of PKAN whose only early symptoms were stammering and hyperactivity, leading to a misdiagnosis of speech disorder and attention hyperactivity; he had been treated with speech therapy and methylphenidate until admission to our clinic. Cranial magnetic resonance imaging (MRI) revealed a typical eye-of-the-tiger sign, and PANK2 mutation was determined. We should note that the atypical type of PKAN could appear as stammering and ADHD in the initial stage. Thus, the juvenile patient with stammering and slowly progressive speech disorder, parental consanguinity and a similar family history should be evaluated by brain MRI to search for the eye-of-the-tiger sign to elucidate PKAN before initiating the other psychiatric treatments.

Keywords: pantothenate kinase-associated neurodegeneration, atipik; stammering; speech disorder

Özet

Pantotenat kinaz ile ilişkili nörodejenerasyon (PKAN) (önceden Hallervorden-Spatz hastalığı olarak bilinen) otozomal nörodejeneratif bir hastalıktır ve pramidal ve ekstrapramidal bulgular ile karakterizedir. Burada atipik bir PKAN formu ile başvuran 15 yaşında bir Türk erkek olguyu sunuyoruz. İlk bulgularının sadece kekeleme ve hiperaktivite olması nedeniyle kliniğimize başvurmadan önce konuşma bozukluğu ve hiperaktivite tanıları ile konuşma tedavisi ve metilfenidat tedavileri almıştır. Kraniyal manyetik rezonans görüntüleme (MRI) ile atipik kaplan gözü bulgusu ve. PANK2 mutasyonu bulunmuştur. Bu bilgiler ışığında PKAN olgularının kekeleme ve konuşma bozukluğu ile de başvurabileceğine dikkat çekmek istiyoruz. Jüvenil hastalarda kekeleme ve yavaş ilerleyen konuşma bozukluğu gözlendiğinde parenteral akrabalık ve benzer aile öyküsü gibi ek etkenlerde var ise beyin MRI incelemesi ile kaplan gözü bulgusunun aranması PKAN ayırıcı tanısının psikiyatrik tedavilerden önce konulmasına yardımcı olabilir.

Anahtar sözcükler: pantotenat kinaz ile ilişkili nörodejenerasyon, atipik; kekeleme; konuşma bouzkluğu

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