İsmail KARTAL, Musa ŞAHPOLAT, M. KOKAÇYA, Nesrin ATÇI

FAHR HASTALIĞI: BEŞ OLGU SUNUMU

Ailesel idiopatik bazal ganglion kalsifikasyonu (Fahr hastalığı) bazal ganglionlar, dentat nukleus ve sentrum semiovalede bilateral idiopatik kalsifikasyon birikimleri olarak tanımlanmaktadır.Fahr hastalığında ailesel kalıtımın da rolü vardır, otozomal dominant geçiş gösteren bir hastalık olan Fahr hastalığında otozomal resesif geçişler de bildirilmiştir. Genetik çalışmalarda kromozom 14q’ da bir odak tespit edilmiştir. Semptomlar genelde 40-60’lı yaşlar arasında görülmekle birlikte nadir de olsa çocukluk çağında da görülebilir Hastalık radyolojik, nörolojik, psikiyatrik ve bilişsel bulgular göstermektedir. Hastalık genellikle asemptomatik seyretmekle beraber nörolojik, psikiyatrik ve bilişsel bozukluk eşzamanlı görülebilir. FH için günümüzde tanımlanmış özgün bir tedavi seçeneği bulunmamaktadır. Bu hastalarda tedavi şikayetlere ve eşlik eden patolojilere yönelik olmaktadır. Bu yazıda patolojik bazal ganglion kalsifikasyonu olan beş olgunun literatür eşliğinde görüntüleme bulguları ve nöropsikiyatrik belirtileri tartışılacaktır.

Anahtar Kelimeler:

Fahr hastalığı, bazal ganglion kalsifikasyonu, hipokalsemi

Fahr’s Disease: Five Cases Report

Familial idiopathic basal ganglia calcification (Fahr's disease) is defined as basal ganglia, dentate nucleus and centrum semiovale bilateral idiopathic calcification deposits. Fahr's disease has the role of family participation and Fahr's disease is an autosomal dominant disease, is that autosomal recessive inheritance have been reported. Genetic studies have been identified a focus in chromosome 14q’. Although symptoms are usually seen beetwen decade of 4 and 6, it is rarely seen in childhood. neurological, abnormalities. Although the disease which is often asymptomatic can be seen with neurological, psychiatric simultaneously. There is not specific therapy modalities option for Fahr’s disease defined currently. Treatment is that according for complaints and accompanying pathologies of patient. İn this article will be discussed that imaging findings of with the literature five cases with pathological basal ganglia calcification and neuropsychiatric symptoms

Keywords:

Fahr's disease, basal ganglia calcification, hypocalcemia,

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Mustafa Kemal Üniversitesi Tıp Dergisi-Cover

ISSN: 2149-3103
Yayın Aralığı: Yılda 3 Sayı
Başlangıç: 2010
Yayıncı: Hatay Mustafa Kemal Üniversitesi Tıp Fakültesi Dekanlığı

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