Fahr hastalığı: Bir olgu serisi

Fahr hastalığı, bazal ganglion, talamus, subkortikal hemisferik beyaz cevher ve derin serebellar nukleusda bilateral ve simetrik olarak kalsiyum birikmesiyle karakterize nadir görülen, idiopatik bir hastalıktır. Genellikle yaşamın 4. ve 6. dekatlarında ortaya çıkar. İstemsiz hareketler, Parkinsonizm, presenil subkortikal demans, nöbet ve ataksi gibi bulgularla birlikte değişik kombinasyonlar şeklinde görülebilir. Bu longitidünal gözlemsel vaka serisi Irak Süleymaniye Eğitim Hastanesi Nöroloji bölümünde yapılmıştır. Üç hastada Fahr hastalığı teşhis edildi. Olguların esas şikayetleri ve bunlara eşlik eden diğer klinik özellikleri not edilerek en az bir yıl takip edildi. Hastaların yaşları sırasıyla 25, 34 ve 21"dir. İkisi kadın, biri ise erkektir. Bu üç hastanın esas şikayetleri heterojendir ve sırasıyla kognitif bozukluk, nöbet ve korea şeklindedir. Tanı koyarken tüm hastalarda kognitif gerileme ve parkinsonizim bulguları mevcuttu. Üç hastada da distoni, diskinezi veya atetozis asla gelişmedi, sadece bir hastada hafif şiddette serebellar ataksi görüldü. Nöbet sadece bir hastada görülürken diğer iki hastada gelişmedi. Tüm hastalarda değişen derecelerde intraserebral kalsifikasyon vardı. Fahr hastalığı radyolojik ve fenotipik bulguları heterojenite gösteren, klinik özellikleri tahmin edilemeyen bir hastalıktır. Bu hastalığın parkinsonizm özelliği olmasada tüm hastalarda teşhis sırasında parkinsonizm bulguları olmaktadır. İstemsiz hareketler ve serebellar disfonksiyon yaygın değildir, ve kognitif bozukluk ile frontal lob subkortikal disfonksiyonu vardır.

Anahtar Kelimeler:

Fahr hastalığı, sitriatopallidodentat kalsinozis, nöbet, istemsiz hareket, kognitif gerileme

Fahr"s disease: a case series

Fahr"s disease is a rare idiopathic bilateral and symmetrical calcification of the basal ganglia, thalami, subcortical hemispheric white matter, and deep cerebellar nuclei that usually presents between the 4nd and 6th decade of life with a variable combination of involuntary movements, Parkinsonism, presenile subcortical dementia, seizures, and ataxia. This longitudinal observational case series was conducted at the neurology outpatients" department of Sulaimaniya general teaching hospital, Iraq. Three patients were diagnosed with Fahr"s disease. Their chief presenting complaint and other coexistent clinical features were noted and followed-up for at least one year. The ages of those consecutive patients were 25, 34, and 21 years, respectively. Two were females and the other patient was a male. The chief presenting complaint among the 3 patients was heterogeneous; cognitive impairment, seizures, and chorea, respectively. At the time of diagnosis, Parkinsonism and cognitive decline were present in all patients. The 3 patients never developed dystonia, dyskinesia, or athetosis and one patient only had mild cerebellar ataxia. Seizures were the presenting feature in one patient and they never developed in the other 2 patients. All patients had a variable degree of intracerebral calcification. Fahr"s disease has heterogeneous phenotypes and the brain radiological findings do not predict the clinical presentation and course. Although Parkinsonism was not the presenting feature, it was found in all patients at the time of diagnosis. Involuntary movements and cerebellar dysfunction were uncommon and the cognitive impairment was of the frontal lobe subcortical dysfunction.

Keywords:

Fahr"s disease; striatopallidodentate calcinosis; seizures; involuntary movements; cognitive decline,

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Yazışma Adresi / Address for Correspondence: Osama Shukir Muhammed Amin Sulaimaniya City Post-Office, PO BOX 196, Sulaimaniya City, Iraq e-mail: dr.osama.amin@gmail.com geliş tarihi/received :01.05.2013 kabul tarihi/accepted:31.05.2013