نتایج جستجو برای: familial idiopathic basal ganglia calcification
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Fahr's syndrome is a rare idiopathic neurodegenerative disorder which can present with wide spectrum of symptoms. It is characterized by bilateral symmetrical dystrophic intracranial calcification. It most commonly involves basal ganglia. A 30 years old male patient presented with progressive speech slurring and tremors of the right upper limb for last five years. His brain imaging studies reve...
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...
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BACKGROUND Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including th...
Fahr’s disease is a progressive and idiopathic basal ganglia calcification with normal metabolism of calcium and phosphore with motor and psychiatric sings and symptoms. Dementi, chorea attetosise, psychosis and depression due to Fahr’s disease are frequently reported, but Fahr’s disease with bipolar mood disorder manifestation is very rare and we found only 3 cases in review of literature fr...
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