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Fahr"s disease: a case series

Year 2013, Volume: 38 Issue: 4, 823 - 831, 01.12.2013

Abstract

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.

References

  • Amin OSM. Fahr’s disease and frontal lobe-like cognitive dysfunction. JMOOD. 2012; 2: 119-22.
  • Fahr KT. Idiopathische Verkalkung der Hirngefässe. Zentralblatt für allgemeine Pathologie und pathologische Anatomie 1930 1931; 50:12933.
  • Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord. 2005; 11:73-80.
  • Martinelli P, Giuliani S, Ippolito N, Martinelli A, Sforza A, Ferrari S. Familial idiopathic striatopallidodentate calcifications with late onset extrapyramidal syndrome. Mov Disord. 1993; 8:220-2.
  • Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, 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; 313:139-45.
  • Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999; 65:764-72.
  • Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013; 14:11-22.
  • Verulashvili IV, Glonti LSh, Miminoshvili DK, Maniia MN, Mdivani KS. Basal ganglia calcification: clinical manifestations and diagnostic evaluation. Georgian Med News. 2006; 140:39-43.
  • Manyam BV, Bhatt MH, Moore WD, Develschoward AB, Anderson DR, Caline DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging and electrophysiological studies. Ann Neurol 1992; 31:379-84.
  • Abubakar SA, Saidu S. Idiopathic bilateral striopallido-dentate calcinosis (Fahr's disease): A case report and review of the literature. Ann Afr Med. 2012; 11:234-7.
  • Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord. 2001; 16:258-64.
  • Bonelli RM, Cummings JL. Frontal-subcortical dementias. Neurologist. 2008; 14(2):100-7.
  • Albert ML, Feldman RG, Willis AL. The “subcortical dementia” of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 1974; 37:121-30.
  • 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.
  • Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci. 2005; 26:367-9.
  • Konupcíková K, Masopust J, Valis M, Horácek J. Dementia in a patient with Fahr's syndrome. Neuro Endocrinol Lett. 2008; 29:431-4.
  • Hoque MA, Siddiqui MR, Arafat Y, Khan SU, Rahman KM, Mondol BA, et al. Fahr's disease: a very rare cause of epilepsy. Mymensingh Med J. 2010; 19:127-9.
  • Ashtari F, Fatehi F. Fahr's disease: variable presentations in a family. Neurol Sci. 2010; 31:665-7.
  • Skvortsov IA, Rudenskala GE, Karaseva AN, Vel'tishchev IuE. Effectiveness of therapeutic use of complexones in various diseases of the extrapyramidal system in children. Zh Nevropatol Psikhiatr Im S S Korsakova. 1987; 87:1457-62.
  • 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

Fahr hastalığı: Bir olgu serisi

Year 2013, Volume: 38 Issue: 4, 823 - 831, 01.12.2013

Abstract

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.

References

  • Amin OSM. Fahr’s disease and frontal lobe-like cognitive dysfunction. JMOOD. 2012; 2: 119-22.
  • Fahr KT. Idiopathische Verkalkung der Hirngefässe. Zentralblatt für allgemeine Pathologie und pathologische Anatomie 1930 1931; 50:12933.
  • Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord. 2005; 11:73-80.
  • Martinelli P, Giuliani S, Ippolito N, Martinelli A, Sforza A, Ferrari S. Familial idiopathic striatopallidodentate calcifications with late onset extrapyramidal syndrome. Mov Disord. 1993; 8:220-2.
  • Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, 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; 313:139-45.
  • Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999; 65:764-72.
  • Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013; 14:11-22.
  • Verulashvili IV, Glonti LSh, Miminoshvili DK, Maniia MN, Mdivani KS. Basal ganglia calcification: clinical manifestations and diagnostic evaluation. Georgian Med News. 2006; 140:39-43.
  • Manyam BV, Bhatt MH, Moore WD, Develschoward AB, Anderson DR, Caline DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging and electrophysiological studies. Ann Neurol 1992; 31:379-84.
  • Abubakar SA, Saidu S. Idiopathic bilateral striopallido-dentate calcinosis (Fahr's disease): A case report and review of the literature. Ann Afr Med. 2012; 11:234-7.
  • Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord. 2001; 16:258-64.
  • Bonelli RM, Cummings JL. Frontal-subcortical dementias. Neurologist. 2008; 14(2):100-7.
  • Albert ML, Feldman RG, Willis AL. The “subcortical dementia” of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 1974; 37:121-30.
  • 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.
  • Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci. 2005; 26:367-9.
  • Konupcíková K, Masopust J, Valis M, Horácek J. Dementia in a patient with Fahr's syndrome. Neuro Endocrinol Lett. 2008; 29:431-4.
  • Hoque MA, Siddiqui MR, Arafat Y, Khan SU, Rahman KM, Mondol BA, et al. Fahr's disease: a very rare cause of epilepsy. Mymensingh Med J. 2010; 19:127-9.
  • Ashtari F, Fatehi F. Fahr's disease: variable presentations in a family. Neurol Sci. 2010; 31:665-7.
  • Skvortsov IA, Rudenskala GE, Karaseva AN, Vel'tishchev IuE. Effectiveness of therapeutic use of complexones in various diseases of the extrapyramidal system in children. Zh Nevropatol Psikhiatr Im S S Korsakova. 1987; 87:1457-62.
  • 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
There are 20 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Osama Shukir Muhammed Amin This is me

Publication Date December 1, 2013
Published in Issue Year 2013 Volume: 38 Issue: 4

Cite

MLA Amin, Osama Shukir Muhammed. “Fahr hastalığı: Bir Olgu Serisi”. Cukurova Medical Journal, vol. 38, no. 4, 2013, pp. 823-31.