نتایج جستجو برای: familial idiopathic basal ganglia calcification
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A 57 year old female came with the complaint of recurrent headache, often fatigue, and sometimes feel numbs and rigid in her extremities, no other symptom was noted. Her body weight is stable and she was in menopausal state. She had a history of partial thyroidectomy 20 years ago and continues thiamazole 2.5 mg with seldom regular consult to physician. From the physical examination, the patient...
1 Wisniewski KE, French JH, Rosen JF, Koslowski PB, Tenner M, Wisniewski HM. Basal ganglia calcification (BGC) in Down's syndrome. Another manifestation of premature aging. Ann NYAcad Sci 1982;396:179-89. 2 Jakab I. Basal ganglia calcification and psychosis in mongolism. Eur Neurol 1978;17:300-14. 3 Lowenthal A, De Deyn P. Striopallidodentate calcifications. In: Joseph AB, Young RR, eds. Moveme...
Fahr's disease refers to a rare syndrome characterised by symmetrical and bilateral intracranial calcification. The basal ganglia are the most common site of involvement and most cases present with extra-pyramidal symptoms. We describe two men with Fahr's diseases who presented with prominent frontal lobe symptoms. The first man presented with frequent uncontrollable bursts of laughter and cryi...
Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, cognitive decline. Genes implicated in PDGFB , PDGFRB SLC20A2 XPR1 MYORG JAM2 . We present case 51-year-old woman who developed subac...
Dense symmetrical calcification of the corpus striatum is rare, but of some general interest for two reasons. First, in a significant number of the reported cases this apparently degenerative condition is closely linked with a metabolic disorder, hypoparathyroidism, which may be idiopathic, parathyroprivic, or of the variety in which the parathyroid glands are histologically normal but the body...
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