Fahr’s disease and frontal lobe-like cognitive dysfunctionrt

Abstract

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.

Keywords

• -

Fahr hastalığı ve frontol lob benzeri bilişsel işlev bozukluğu

Öz

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

Kaynakça

1. Fahr KT. Idiopathische Verkalkung der Hirngefässe. Zentralblatt für allgemeine Pathologie und pathologische Anatomie 1930 1931;50:129 33. 2. Bamberger PH. Beobactungen und bemerkungen uber hirnkrankhaiten. Verh Phys Med Ges Wurzburg 1855;6:325-8.
2. Matinelli P, Guiliani S, Ippolito N, et al. Familial idiopathic striatopallidodentate calcifications with late onset extrapyramidal syndrome. Mov Disord 1993;8:220.
3. Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985;313:13945.
4. Verulashvili IV, Glonti LSh, Miminoshvili DK, Maniia MN, Mdivani KS. Basal ganglia calcification: clinical manifestations and diagnostic evaluation. Georgian Med News 2006;140:3943.
5. Ropper AH, Samuels MA. Adams and Victor Principals of Neurology, 9th edition. New York: McGraw Hill Professional, 2009.
6. Manyan BV. What is and what is not Fahr’s disease. Parkinsonism Relat Disord 2005;11:7380.
7. Yamada N, Hayashi T. Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report. No To Hattatsu 2000;32:5159.
8. Kotan D, Aygul R. Familial Fahr’s disease in a Turkish family. South Med J 2009;102:85-6.

9. Hecser L, Croitorescu L, Biris D, Siklodi KP, Jung H. Fahr’s disease: bilateral symmetrical striopallidodentate calcification. Rom J Leg Med 2010;1: 25-6.
10. Dunne FJ. Subcortical dementia. BMJ 1993;307:1-2.
11. Albert ML, Feldman RG, Willis AL. The “subcortical dementia” of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 1974;37:121-30.
12. Tweedy JR, Langer KG, McDowqell FH. The effect of semantic relations on the memory deficit associated with Parkinson’s disease. J Clin Neuropsychol 1982;4:235-47.
13. Lam JSP, Fong SYY, Yiu GC, Wing YK. Fahr’s disease: a differential diagnosis of frontal lobe syndrome. Hong Kong Med J 2007;13:75-7.
14. Koller WC, Cochran JW, Klawans HL.Calcification of the basal ganglia: computerized tomography and clinical correlation. Neurology 1979;29:328-33.
15. Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord 2001;16:258-64.
16. Oliveira JR, Spiteri E, Sobrido MJ, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr’s disease). Neurology 2004;63:2165-7.