Fahr’s Disease: Five Cases Report

Öz

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

Anahtar Kelimeler

• Fahr's disease
• basal ganglia calcification
• hypocalcemia

FAHR HASTALIĞI: BEŞ OLGU SUNUMU

Öz

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

Kaynakça

1. Cartier L, Passig C, Gormaz A, López J. Neuropsychological and neurophysiological features of
2. Fahr's disease. Rev Med Chil 2002; 130:1383-1390.
3. Fahr T. Idiopathische verkalkung der hirngefa¨be. Centralblatt fu¨r allgemeine Pathologie und
4. pathologische. Anatomie 1930; 50:129–133.
5. Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y. Familial idiopathic brain calcification with
6. autosomal dominant inheritance. Neurology 1997; 48:645-649.
7. Longman C, Whiteford M, Koppel D, Donaldson M, Paterson W, Tolmie J. Craniosynostosis
8. associated with intracranial calcification: a novel recessive syndrome. Clin Dysmorphol 2003; 12:215-

9. -
10. Pilleri G. A case of Morbus Fahr(nonarteriosclerotic, idiopathic intracerebral calcification of the
11. blood vessels) in three generations. An clinico-anatomical contribution. Psychiatr Neurol (Basel)
12. ; 152:43-58.
13. Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ.
14. Encephalopathy with calcifications of the basal ganglia in children: a reappraisal of Fahr's syndrome
15. with respect to 14 new cases. Neuropediatrics 1989; 20:12-19.
16. Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic
17. basal ganglia calcification (Fahr disease). Am J Hum Genet 1999; 65:764-772.
18. Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, McKenzie R, Schofield PR. Familial
19. idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric
20. symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet 2002; 110:8-14.
21. Menkes JH, Sarnat HB. Child Neurology. 6th ed, Philadelphia, Lippincott Williams&Wilkins 2000;
22. -184.
23. Förstl H, Krumm B, Eden S, Kohlmeyer K. Neurological disorders in 166 patients with basal
24. ganglia calcification: a statistical evaluation. J Neurol 1992; 239:36-38.
25. Windeck R, Menken U. Basal ganglia calcification in pseudohypoparathyroidism typeII. Clin
26. Endocrinol 1981; 15:57-63.
27. Babbitt DP, Tang T, Dobbs J, Berk R. Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's
28. disease) and review of differential diagnosis of intracranial calcification in children. Am J Roentgenol
29. Radium Ther Nucl Med 1969; 105:352-358.
30. Lam JSP, Fong SYY, Yiu GC, Wing YK. Fahr’s disease: a differential diagnosis of frontal lobe
31. syndrome. Hong Kong Med J 2007; 13:75-77.
32. Lester J, Zuniga C, Diaz S, Rugilo C, Micheli F. Diffuse intracranial calcinosis: Fahr disease. Arch
33. Neurol 2006; 63:1806-1807.
34. Konig P. Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biol
35. Psychiatry 1989; 25:459-468.