نتایج جستجو برای: idiopathic basal ganglia calcification
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Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in of the brain. The affected individuals exhibit movement disorders, and progressive deterioration cognitive psychiatric ability. genetic cause disease mutation one several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably sporadically occurs. He...
BACKGROUND Fahr's disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term "Fahr's syndrome" is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical pi...
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder (1). We herein demonstrate the brain computed tomography (CT) findings of a 31-year-old woman with HDR syndrome caused by a GATA3 heterozygous mutation (2). Her 1-year-old son had renal cystic dysplasia. Brain CT revealed bilateral and symmetrical calcifications in the basal ganglia, ...
Idiopathic hypoparathyroidism presenting as convulsions along with choreoathetosis simultaneously is a distinctly rare scenario. We present a case of Idiopathic hypoparathyroidism who presented with status epilepticus along with extrapyramidal dysfunction in the form of choreoathetosis. Clinical diagnosis was confirmed by the demonstration of basal ganglia calcification in Non Contrast Computed...
1. Antonelli A, Fallahi P, Ferrari SM, Mancusi C, Giuggioli D, Colaci M, et al. Incidence of thyroid disorders in systemic sclerosis: Results from a longitudinal follow-up. J Clin Endocrinol Metab. 2013;98:E1198--202. 2. Gordon MB, Klein I, Dekker A, Rodnan GP, Medsger TA Jr. Thyroid disease in progressive systemic sclerosis: Increased frequency of glandular fibrosis and hypothyroidism. Ann Int...
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