RESUMO
We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for c.472insC in TACO1. All 5 patients had an uneventful early childhood and a subtle onset, slowly progressive cognitive dysfunction, dystonia or visual impairment between ages 4 and 16years. Affected girls had a milder phenotype and preserved ambulation into the late twenties. Brain MRI revealed bilateral, symmetric lesions of the basal ganglia in all affected family members, but less prominent in girls. TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome.
Assuntos
Gânglios da Base/patologia , Transtornos Cognitivos/genética , Deficiência de Citocromo-c Oxidase/genética , Proteínas dos Microfilamentos/genética , Músculo Esquelético/patologia , Adolescente , Adulto , Criança , Transtornos Cognitivos/enzimologia , Transtornos Cognitivos/patologia , Deficiência de Citocromo-c Oxidase/enzimologia , Deficiência de Citocromo-c Oxidase/patologia , Complexo IV da Cadeia de Transporte de Elétrons/genética , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Feminino , Humanos , Doença de Leigh/genética , Doença de Leigh/patologia , Imageamento por Ressonância Magnética , Masculino , Proteínas dos Microfilamentos/metabolismo , Músculo Esquelético/enzimologia , Fenótipo , Fatores SexuaisRESUMO
PURPOSE: Tuberculosis remains the most important infectious disease all over the world. We report on the CT findings of lung tuberculosis. MATERIAL AND METHODS: Standardised retrospective analysis of the computed tomographic examinations in a total of 100 patients suffering from cultural or histological proven pulmonary tuberculosis. RESULTS: The most common finding in our study group were micronodules and lobular opacities accompanied by enlarged lymph nodes. Cavitation and alteration of the bronchial system (esp. bronchial wall thickening) were found less common. The so-called tree-in bud-appearance which had been estimated by other authors to be rather characteristic for active pulmonary tuberculosis was seen in only 12/100 examinations. It is often found in cases showing severe bronchogenic spreading of the disease. CONCLUSION: The active pulmonary tuberculosis does not show any pathognomonic sign but the combination of findings as opacities and cavitation and segmental spreaded micronodules make the diagnosis probable. This holds also for the so-called tree-in-bud appearances which may be rather suggestive but is seen only in cases suffering from severe bronchiogenic propagation.
