Fahr hastalığı ve frontol lob benzeri bilişsel işlev bozukluğu

Giriş: İdiyopatik, bilateral ve simetrik striatopallidodentate kalsinozis (veya Fahr hastalığı) genellikle anormal hareketler, parkinsonizm, nöbetler ve bilişsel işlev bozukluğun gibi belirtilerin değişken birliktelikleri ile yaşamın dördüncü, altıncı ve onuncu yılları arasında nadir görülen bir hastalıktır. Beyin BT görüntülemesinin yaygın kullanımı sebebi ile belirtisiz olguların teşhisi giderek artmaktadır. Olgu sunumu: Biz yaygın beyin içi kalsifikasyon ve normal kalsiyum metabolizmasına sahip; bellek bozukluğu, zihinsel yavaşlık, irritabilite, apati, kötü gece uykusu ve sosyal izolasyon gibi belirtilerin eşlik ettiği 6 yıl içinde giderek artan frontal-lob benzeri bilişsel yıkımla seyreden 25 yaşında bir kadın hastayı sunuyoruz. Hastanın genel bir rijiditesi vardı fakat titremesi yoktu. Bir buçuk yıldan fazla bir süredir devam eden takipleri sırasında hastada nöbet gelişmedi. Sonuç: Fahr hastalığı karşımıza sadece frontal lob benzeri bilişsel işlev bozukluğu olarak ve beynin radyolojik bulgularının klinik belirtileri ve hastalığın gidişatını öngöremediği bir klinik tablo ile ortaya çıkabilir.

Anahtar Kelimeler:

Fahr hastalığı, frontal lob, bilişsel işlev bozukluğu, kafa içi kalsifikasyon

Fahr’s disease and frontal lobe-like cognitive dysfunctionrt

Introduction: Idiopathic, bilateral, and symmetric striatopallidodentate calcinosis (or Fahr’s disease) is a rare disease that usually presents between the fourth, sixth, and tenth decades of life with a variable combination of abnormal movements, Parkinsonism, seizures, and cognitive dysfunction. Asymptomatic cases are being increasingly recognized because of the widespread use of brain CT scanning. Case presentation: We report a 25-year-old female who had diffuse intra-cerebral calcification and normal calcium metabolism; her presentation was progressive frontal lobe-like cognitive decline over a period of 6 years; impairment in memory, mental slowness, irritability, apathy, poor night time sleep, and social isolation. She has generalized rigidity but no tremor. Over a period of one and a half year of follow-up, she had not developed seizures. Conclusion: Fahr’s disease may present as an isolated frontal lobe-like cognitive dysfunction and that the radiological findings of brain do not predict the clinical presentation and course.

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