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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., (Copyright © 2010 Elsevier B.V. All rights reserved.)

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.

Unlabelled: Computed tomography (CT) provides the most reliable method to detect emphysema in vivo. Commonly used methods only calculate the area of low attenuation [pixel index (PI)], while a radiologist considers the bullous morphology of emphysema. The PI is a good, well-known measure of emphysema. But it is not able to detect emphysema in cases in which emphysema and fibrosis occur at the same time. This is because fibrosis leads to a low number of low-attenuation pixels, while emphysema leads to a high number of pixels. The PI takes the average of both and, consequently, may present a result within the normal range., Method: The main focus of this paper is to present a new algorithm of thoracic CT image evaluation based on pulmonary morphology of emphysema. The PI is extended, in that it is enabled to differentiate between small, medium, and large bullae (continuous low-attenuation areas). It is not a texture-based algorithm. The bullae are sorted by size into four size classes: class 1 being within the typical size of lung parenchyma; classes 2-4 presenting small, medium, and large bullae. It is calculated how much area the different classes take up of all low-attenuation pixels. The bullae index (BI) is derived from the percentage of areas covered, respectively, by small, medium, and large bullae. From the relation of the area of bullae belonging to class 4, to that of those belonging to class 2, a measure of the emphysema type (ET)is calculated. It classifies the lung by the type of emphysema in bullous emphysema or small-sized, diffuse emphysema, respectively., Results: The BI is as reliable as the PI. In cases in which the PI indicates normal values while in fact emphysema is coexisting with fibrosis, the BI, nevertheless, detects the destruction caused by the emphysema. The BI combined with the ET reflects the visual assessment of the radiological expert., Conclusion: The BI is an objective and reliable index in order to quantify emphysematous destruction, hence, avoiding interobserver variance. This is particularly interesting for follow-up. The classification of the ET is a helpful and unique approach to achieving an exact diagnosis of emphysema.

Pulmonary lymphangioleiomyomatosis (LAM) is characterised by the proliferation of smooth muscle cells in the peribronchial, perivascular and perilymphatic tissue resulting in severe destructive changes of the lung parenchyma. We reviewed the literature and compared the findings in chest radiograph and CT with our own results obtained in a group of 12 patients suffering from histological proven LAM. The main findings of LAM in chest radiograph are a diffuse reticular opacity and an increased lung volume, often large cysts are visible. The CT scans reveal that cystic lesions are present in all patients, but the reported size of the cystic lesions is contradictory. We postulate two main types of LAM: the one resulting in a diffuse distribution of multiple small cysts, partially demonstrating a honey-combing pattern, the other showing severe destruction of the lung parenchyma due to large cysts. The presence of fibrotic changes and architectural distraction does not exclude LAM. So chest radiograph as well as computed tomography reveal neither uniform nor pathognomonic findings. Differential diagnosis of LAM seems to be more difficult than most authors believe.

The ultrasonographic findings on Peutz-Jeghers syndrome are demonstrated on two cases. As a non-invasive method the digitalized computered sonography may give the opportunity to detect even small polyps. The sensitivity of this method is comparable with the MRI and gives new perspectives in the follow up of Peutz-Jeghers syndrome.

Rationale and Objectives: The authors investigated the influence of cigarette smoking on healthy, asymptomatic smokers and nonsmokers with the help of spirometric triggered quantitative computed tomography. In our prospective study, the authors compared conventional lung function parameters with the computed tomography values (lung attenuation, lung area)., Methods: The study group comprised 40 healthy volunteers consisting of 20 smokers and nonsmokers (20 females and 20 males). The corresponding groups have been matched concerning their age, height, body mass, (cigarette) pack years. Computer tomography scans were triggered at 35%, 50%, 70% and 95% of vital capacity at a defined apical and a basal level., Results: Functional residual capacity (FRC), total lung capacity and airway resistance showed close correlations to lung parenchymal attenuation values especially at full inspiration and expiration. For example, the authors found a correlation coefficient of r = -0.845 (P < or = 0.001) concerning the FRC and lung attenuation values in the apical lung at 35% of vital capacity in male smokers. Male smokers proved to have a significantly higher pulmonary lung density at all inspiratory states than the other groups (P < or = 0.05; Student's t test). Although male smokers had a higher vital capacity they showed a smaller cross-sectional area increase of the lung during inspiration than nonsmokers. This phenomenon is a result of the decreasing compliance of the smoker's lung, due to small airways disease and hypoxic vasoconstriction., Conclusions: Spirometric-triggered quantitative computed tomography has proved to be a sensitive diagnostic device for the investigation of early pathomorphologic changes in healthy, asymptomatic cigarette smokers.

Unlabelled: 45 patients with pleural and/or peripheral lung lesions detected by chest radiography were examined by chest ultrasound. A chest CT-scan was obtained as a reference method afterwards. In 43 pleural or peripheral lung lesions we found corresponding results comparing size, invasivity and nature comparing the two diagnostic methods. In 35 of 41 cases an ultrasound (US)-guided needle biopsy confirmed the preliminary diagnosis suspected after sonography of the chest. Six needle biopsies allowed no definite diagnosis. Two patients developed a pneumothorax that required drainage after US-guided needle biopsy., Conclusion: Real-time sonography of the chest and chest CT-scans are complementary methods examining pleural and peripheral lung lesions, corresponding results are demonstrated in respect of location, size, invasivity and nature of the lesions.

In an attempt to optimize renal artery angiography we performed a CT-study. In 500 patients we determined the angle at which the arteries arise from the aorta and their course. Both renal arteries are in one plane, which is tilted 13 degrees ventrally on the right and 13 degrees dorsally on the left. More distally we found an angle of 35 degrees on the right and an angle of 29 degrees on the left in the dorsal direction. These findings were independent of age and sex of the patient.

The authors performed 68 liver embolizations in 51 patients. As selectively as possible, Lipiodol, to block the capillary bed, and a chemotherapeutic agent were injected into the liver tumors. A CT performed 24 hours after treatment showed the distribution of the contrast medium which is also an indicator of the distribution of the chemotherapeutic agents. It was found that the contrast medium had accumulated not only in the liver but also in the lungs. Here, four different degrees of accumulation were found, according to the amount of Lipiodol used. Embolization of the liver thus involves potential hazards for the lungs, such as microembolisms, pneumonia, and toxic effects of the chemotherapeutic agents.

102 polytraumatised patients with pelvic fractures were studied by conventional x-rays of the pelvis as well as by computed tomography to obtain detailed information on type and degree of the fractures. We paid particular attention to acetabular and sacral fractures and combinations thereof. We found that only computed tomography enabled us to precisely define type and degree of pelvic injury. We thus draw the conclusion that each patient with proven or suspected pelvic injury should be subjected to a CT study to enable the surgeon to plan his therapy-conservative or surgical-to the best benefit of the patient.

The rounded (helical) atelectasis is a benign alteration of the lung that can be diagnosed by radiography. Besides the criteria of the chest x-ray film and of the conventional tomogram (shadow close to the pleura, located mainly in the inferior lobe, with "comet-sign" and pleural thickening) the most important finding in computed tomography is the "octopus-sign".

A new CT-sign as a pointer to the imminent rupture of an abdominal aortic aneurysm is described: the enhanced shell of the thrombus of the aneurysm. This sign is caused by bleeding into the thrombotic layer.

A case of scimitar syndrome is reported in which the diagnosis was first suggested on chest radiograph. The diagnosis was confirmed by computed tomography (CT) and intravenous digital subtraction angiography (DSA). CT and DSA seem to be able to evaluate the structure and distortion of the lung and the vessels.

29 patients with unclear symptoms in the right lower abdomen received a CT-examination in an attempt to prove or exclude appendicitis. In almost all cases it was possible to demonstrate the inflammatory process in the appendix itself (size of the organ). More diagnostic information was obtained by careful examination of the accompanying reactions of the cecum, the mesenteriolum, the fascia and other neighboring organs. Thus CT is a valuable tool in the diagnosis of appendicitis and facilitates the decision for or against an appendectomy, which otherwise may be very difficult.

The benign segmental bronchial obstruction--mostly discovered on routine chest films--can well be diagnosed by CT. The specific findings in CT are the site of the bronchial obstruction, the mucocele and the localized emphysema of the involved segment. Furthermore CT allows a better approach to the underlying process.