Basal Ganglia Calcifications
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. Estudo da prevalÃncia de calcificaÃÃo em nÃcleos da base do cÃrebro atravÃs de estudo imaginolÃgico
As calcificaÃÃes de nÃcleos da base estÃo relacionadas com vÃrias doenÃas sistÃmicas, infecciosas, neurolÃgicas e psiquiÃtricas. Devido a um aumento no uso de tÃcnicas de neuroimagem, especialmente a tomografia computadorizada (TC), as calcificaÃÃes em nÃcleos da base sÃo cada vez mais precocemente visualizadas. A calcinose âdo tipo Fahrâ (es
Publicado em: 2008
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2. Bilateral basal ganglia calcifications visualised on CT scan.
Thirty-eight cases of basal ganglia calcification imaged on computed axial tomography were reviewed. Most cases were felt to represent senescent calcification. The possibility of a vascular aetiology in this group is discussed. A less common group of patients was identified with calcification secondary to abnormalities in calcium metabolism or radiation ther
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3. Musical hallucinations associated with post-thyroidectomy hypoparathyroidism and symmetric basal ganglia calcifications.
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4. Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.
A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The ca
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5. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X‐linked mental retardation with hydrocephalus and calcifications in basal ganglia
Fried syndrome, first described in 1972, is a rare X‐linked mental retardation that has been mapped by linkage to Xp22. Clinical characteristics include mental retardation, mild facial dysmorphism, calcifications of basal ganglia and hydrocephalus. A large four‐generation family in which the affected males have striking clinical features of Fried syndrom
BMJ Group.
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6. Familial idiopathic cerebral calcifications.
Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcif
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7. A prospective study of patients with CT detected pallidal calcifications.
In a prospective study pallidal calcification was detected in 30 of 1478 (2%) adult patients, on CT brain scans. In 8 cases (26%), the calcifications were detected either years after, or during the course of, conditions known to cause basal ganglia calcification, including AIDS in four cases. Eight patients (three with AIDS) had disturbances of calcium and p
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8. Hemiballism: report of 25 cases.
Twenty three patients with hemiballism and two with biballism were studied. Ischaemic and haemorrhagic strokes were the cause in most patients. Other causes were encephalitis, Sydenham's chorea, systemic lupus erythematosus, basal ganglia calcifications, non-ketotic hyperglycaemia, and tuberous sclerosis. Neuroimaging studies showed a lesion of the subthalam
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9. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
OBJECTIVE--To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS--Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleoti
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10. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid interferon-alpha (IFN-alpha). Diagnosis requires