.: OLGU SUNUMU
Fahr Sendromu
Fahr Syndrome
Turkiye Klinikleri J Intern Med. 2019;4(1):43-6
doi: 10.5336/intermed.2018-64255
Makale Dili: TR
Tam Metin
Ücretsiz Erişim
ÖZET
Fahr hastalığı; kalsiyum metabolizması bozukluğu ile gelişen, çift taraflı simetrik intrakraniyal kalsifikasyon ile seyreden, nörodejeneratif bozukluklar ile karakterize, nadir görülen bir hastalıktır. Klinik olarak konuşma bozukluğu, yürümede dengesizlik, istemsiz hareketler ya da kas krampları ile başlayıp; tabloya psikoz, kişilik değişiklikleri gibi nöropsikiyatrik semptomlar eşlik edebilmektedir. Tanıda kalsiyum birikimlerini göstermede en sık kullanılan inceleme yöntemi beyin tomografisidir. Fahr hastalığı, nedeni belli ise "Fahr sendromu" olarak tanımlanmaktadır. Bu çalışmada, ellerde tremor ve kas seyirmeleri şikâyetleri ile başvuran ve idiyopatik hipoparatiroidi saptanan Fahr sendromu olgusunun sunulması amaçlanmıştır.
Anahtar Kelimeler: Fahr sendromu; hipoparatiroidi; hipokalsemi
Fahr hastalığı; kalsiyum metabolizması bozukluğu ile gelişen, çift taraflı simetrik intrakraniyal kalsifikasyon ile seyreden, nörodejeneratif bozukluklar ile karakterize, nadir görülen bir hastalıktır. Klinik olarak konuşma bozukluğu, yürümede dengesizlik, istemsiz hareketler ya da kas krampları ile başlayıp; tabloya psikoz, kişilik değişiklikleri gibi nöropsikiyatrik semptomlar eşlik edebilmektedir. Tanıda kalsiyum birikimlerini göstermede en sık kullanılan inceleme yöntemi beyin tomografisidir. Fahr hastalığı, nedeni belli ise "Fahr sendromu" olarak tanımlanmaktadır. Bu çalışmada, ellerde tremor ve kas seyirmeleri şikâyetleri ile başvuran ve idiyopatik hipoparatiroidi saptanan Fahr sendromu olgusunun sunulması amaçlanmıştır.
Anahtar Kelimeler: Fahr sendromu; hipoparatiroidi; hipokalsemi
ABSTRACT
Fahr's disease; is a rare disorder characterized by neurodegenerative disorders with bilateral symmetrical intracranial calcification which is caused by calcium metabolism disorder. It may be clinically associated with speech disorder, walking imbalance, involuntary movements or muscle cramps, and may be accompanied by neuropsychiatric symptoms such as psychosis and personality changes. Brain tomography is the most commonly used method in the diagnosis of calcium accumulation in the diagnosis. If Fahr's disease is secondary to a known cause, the disease is defined as the Fahr syndrome. In this report, we present a case of Fahr syndrome with idiopathic hypoparathyroidism who presented with tremor and muscle twitch of the hands.
Keywords: Fahr syndrome; hypaparathyroidism; hypocalcemia
Fahr's disease; is a rare disorder characterized by neurodegenerative disorders with bilateral symmetrical intracranial calcification which is caused by calcium metabolism disorder. It may be clinically associated with speech disorder, walking imbalance, involuntary movements or muscle cramps, and may be accompanied by neuropsychiatric symptoms such as psychosis and personality changes. Brain tomography is the most commonly used method in the diagnosis of calcium accumulation in the diagnosis. If Fahr's disease is secondary to a known cause, the disease is defined as the Fahr syndrome. In this report, we present a case of Fahr syndrome with idiopathic hypoparathyroidism who presented with tremor and muscle twitch of the hands.
Keywords: Fahr syndrome; hypaparathyroidism; hypocalcemia
REFERANSLAR:
- Cartier L, Passig C, Gormaz A, López J. [Neuropsychological and neurophysiological features of Fahr?s disease]. Rev Med Chil. 2002;130(12):1383-90. [Crossref ] [PubMed]
- Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr?s syndrome: literature review of current evidence. Orphanet J Rare Dis. 2013;8:156. [Crossref ] [PubMed] [PMC]
- Manyam BV. What is and what is not Fahr?s disease. Parkinsonism Relat Disord. 2005;11(2):73-80. [Crossref ] [PubMed]
- Moskowitz MA, Winickoff RN, Heinz ER. Familial calcification of the basal ganglions: a metabolic and genetic study. N Engl J Med. 1971;285(2):72-7. [Crossref ] [ PubMed]
- Ellie E, Julien J, Ferrer X. Familial idiopathic striopallidodentate calcifications. Neurology. 1989;39(3):381-5. [Crossref ] [PubMed]
- Bouras C, Giannakopoulos P, Good PF, Hsu A, Hof PR, Perl DP. A laser microprobe mass analysis of trace elements in brain mineralizations and capillaries in Fahr?s disease. Acta Neuropathol. 1996;92(4):351-7. [Crossref ] [PubMed]
- Beall SS, Patten BM, Mallette L, Jankovic J. Abnormal systemic metabolism of iron, porphyrin and calcium in Fahr?s syndrom. Ann Neurol. 1989;26(4):569-75. [Crossref] [PubMed]
- Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. J Cell Mol Med. 2015;19(1):239-48. [Crossref] [PubMed] [PMC]
- Hayashi T, Legati A, Nishikawa T, Coppola G. First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study. Psychiatry Clin Neurosci. 2015;69(2):77-83. [Crossref] [PubMed]
- Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, et al. Update and mutational analysis of SLC20A2: a major cause of primary familial brain calcification. Hum Mutat. 2015;36(5):489-95. [Crossref] [PubMed]
- Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N?Guyen L, et al. XPR1 mutations are a rare cause of primary familial brain calcification. J Neurol. 2016;263(8):1559-64. [Crossref ] [PubMed]
- Stelmasiak Z, Tarach JS, Nowicka-Tarach BM, Mitosek-Szewczyk K, Drop A. Idiopatic hypoparathyroidism with intracranial calcification and dominant skin manifestions. Med Sci Monit. 2000;6(1):145-50. [PubMed ]
- Erarslan S, Kilit TP. [A rare neurological disorder characterized by atypical findings: Fahr?s disease case report]. DEU Tıp Fakültesi Dergisi. 2017;31(1):59-62.
- König P. Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biol Psychiatry. 1989;25(4):459-68. [Crossref]
- Skvortsov IA, Rudenskaia GE, Karaseva AN, Vel?tishchev IuE. [Effectiveness of the therapeutic use of complexones in various diseases of the extrapyramidal system in children]. Zh Nevropatol Psikhiatr Im SS Korsakova.1987;87(10):1457-62. [PubMed ]
.: İşlem Listesi