نتایج جستجو برای: familial idiopathic basal ganglia calcification

تعداد نتایج: 249298  

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2014
Nazia Dildar Hamid Akram Imran Masood Qasmi Muhammad Nazir Qureshi Sara Khan

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...

2014
Subrata Chakrabarti

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...

Journal: :Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion 2015
Julia Sastre-Marcos Florentino Val-Zaballos Miguel Ángel Ruiz-Ginés José Saura-Montalbán Mariano Veganzones-Pérez

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...

2013
Fereshteh Ashtari Kioomars Saliminejad Ali Ahani Koorosh Kamali Zhamak Pahlevanzadeh Hamid Reza Khorram Khorshid

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...

آذری , پریا,

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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