Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

BACKGROUND: Germline mutations in the tumour suppressor gene CYLD are recognized to be associated with the development of multiple cutaneous cylindromas. We encountered such a patient who presented with breathlessness because of multiple pulmonary cylindromas. OBJECTIVES: To search for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations. METHODS: A retrospective case-note review was carried out in a tertiary dermatogenetics clinic where CYLD mutation carriers are reviewed on an annual basis. In-depth investigation was carried out for patients with pulmonary tumours. RESULTS: Four patients had radiological imaging of their lungs, of which two had multiple pulmonary cylindromas that were confirmed histologically. Serial computed tomography monitoring allowed for pre-emptive endobronchial laser ablation, preventing major airway obstruction and pulmonary collapse. CONCLUSIONS: Pulmonary cylindromas are an unrecognized, but infrequently symptomatic, aspect of the phenotype in these patients that can have implications for patient care. They should be considered in patients with a high tumour burden that present with respiratory symptoms, and where appropriate, monitored with serial imaging.

Lack of association between KIR and HLA-C type and susceptibility to idiopathic bronchiectasis.

INTRODUCTION: Idiopathic bronchiectasis is a poorly defined disease characterised by persistent inflammation, infection and progressive lung damage. Natural killer (NK) cells provide a major defense against infection, through the interaction of their surface receptors, including the activating and inhibitory killer immunoglobulin-like receptors (KIR), and human leukocyte antigens (HLA) class I molecules. Homozygosity for HLA-C has been shown in a single study to confer increased genetic susceptibility to idiopathic bronchiectasis. We aimed to assess whether the KIR and HLA repertoire, alone or in combination, may influence the risk of developing idiopathic bronchiectasis, in an independent replication study. METHODS: In this prospective, observational, case-control association study, 79 idiopathic bronchiectasis patients diagnosed following extensive aetiological investigation were compared with 98 anonymous, healthy, age, sex and ethnically-matched controls attending blood donor sessions in the same geographical location. DNA extraction was performed according to standardised techniques. Determination of presence or absence of KIR genes was performed by a sequence specific oligonucleotide probe method. Allele frequencies for the proposed KIR, HLA-B and HLA-C risk alleles both individually and in combinations were compared. RESULTS: We found no significant differences in allele frequency between the idiopathic bronchiectasis and control samples, whether considering HLA-C group homozygosity alone or in combination with the KIR type. DISCUSSION: Our results do not show an association between HLA-C and KIR and therefore do not confirm previous positive findings. This may be explained by the lower frequency of HLA-C1 group homozygosity in the control population of the previous study (27.2%), compared to 42.3% in our study, which is consistent with the genetic profiling of control groups across the UK. The previous positive association study may therefore have been driven by an anomalous control group. Further larger prospective multicentre replication studies are needed to determine if an association exists.

Phenotyping adults with non-cystic fibrosis bronchiectasis: a prospective observational cohort study.

BACKGROUND: Bronchiectasis is the outcome of a number of different airway insults. Very few studies have characterised the aetiology and utility of a dedicated screening proforma in adult patients attending a general bronchiectasis clinic. METHODS: A prospective observational study of 189 bronchiectasis patients attending two centres in the North East of England over a two-year period was performed. RESULTS: The aetiology of bronchiectasis was identified in 107/189(57%) patients. Idiopathic bronchiectasis (IB) represented the largest subgroup (43%). Post-infection bronchiectasis (PIB) constituted the largest proportion (24%) of known causes. Mean age (SD) at diagnosis was 54(20) years with a mean age at symptom onset of 37(24) years, accounting for a diagnostic delay of 17 years. Age of symptom onset was significantly younger in patients with PIB compared to IB (p < 0.0001) and in Pseudomonas sputum positive patients (p = 0.007). Screening for APBA and total immunoglobulin deficiency identified 9 (5%) patients who then had tailored treatment. Routine screening for other aetiologies was deemed unnecessary. CONCLUSION: IB and PIB accounted for two thirds of cases of bronchiectasis in a general population. We recommend routine screening for ABPA and total immunoglobulin deficiency but not for other rarer aetiologies.

High-resolution computed tomographic characteristics in acute farmer's lung and in its follow-up.

High resolution computed tomography (HRCT) scans are increasingly used in hypersensitivity pneumonitis (HP). This study looked at HRCT findings at different phases of farmer's lung (FL), a common form of HP. A cross sectional analysis of 95 HRCT scans of FL cases (20 acute, 75 with a history of FL, 48 still in contact (Ex +) (dairy farm), and 27 who had ceased contact (Ex-)) was made. All scans were read independently by two, and if needed by three, radiologists blinded to the category. The lungs were divided into six regions (fives lobes + lingula), and read for attenuation/mosaic, ground-glass, micronodules, fibrosis, and emphysema. A score of 0-3 was given for each region and each variable: 0 = absence, 1 =<25% of the surface, 2 = 25-50%, 3 =>50%. Mediastinal lymphadenopathy was also noted. Ground glass, predominating in the lower lobes, was the most frequent feature in the acute and Ex+ cases. Other abnormalities had no preferential distribution. Ex+ had more ground-glass than the Ex- (p=0.0025). Emphysema was more frequently seen than interstitial fibrosis (p=0.004). Mediastinal lymphadenopathy was present in 26 cases (9 acute, 10 Ex+ and 7 Ex-). In conclusion, in farmer's lung: 1) ground-glass predominates in the lower lobes while the other abnormalities have no anatomic predilection; 2) contact avoidance allows a better resolution of computed tomography abnormalities than continued exposure; 3) emphysema is a more frequent finding than interstitial fibrosis; and 4) the presence of mediastinal lymphadenopathy has no negative diagnostic value.

The appearance on MRI of vertebrae in acute compression of the spinal cord due to metastases.

We studied MR images of the spine in a consecutive series of 100 patients with acute compression of the spinal cord due to metastases. All patients had documented neurological deficit and histologically proven carcinoma. MRI was used to localise bony metastatic involvement and soft-tissue impingement of the cord. A systematic method of documenting metastatic involvement is described. A total of 43 patients had compression at multiple levels; 160 vertebral levels were studied. In 120 vertebrae (75%), anterior, lateral and posterior bony elements were involved. Soft-tissue impingement of the spinal cord often involved more than one quadrant of its circumference. In 69 vertebrae (43%) there was concomitant anterior and posterior compression. Isolated involvement of a vertebral body was observed in only six vertebrae (3.8%). We have shown that in most cases of acute compression of the spinal cord due to metastases there is coexisting involvement of both anterior and posterior structures.

Technical report: Cystic air spaces in the lung: change in size on expiratory high-resolution CT in 23 patients.

PURPOSE: To determine the presence of change in size of air-filled cysts in the lung on expiration by comparison between inspiratory and expiratory high-resolution computed tomography (CT) scans. MATERIALS AND METHODS: Inspiratory and expiratory high-resolution (1-mm collimation) CT scans were obtained in 23 patients with lung cysts due to a variety of lung diseases. The 23 patients had a total of 27 types of cystic lesions including bullae (n=7), honeycomb cysts due to fibrosing alveolitis (n=11), lymphangioleiomyomatosis (LAM, n=2), cystic adenomatoid malformation (n=1), and bronchiectasis (n=6). An adequate expiratory effort, with at least 5% decrease in the anteroposterior or transverse thoracic diameter, was required for inclusion in the study. Inspiratory and expiratory scans at corresponding anatomic levels were compared to determine any change in size of the cysts on expiration. RESULTS: Cystic lesions due to bronchiectasis, LAM and fibrosing alveolitis decreased in size on expiratory CT. In six of seven cases bullae decreased in size, and in one patient with a single bulla it remained unchanged. In one case a single cyst due to cystic adenomatoid malformation increased in size on expiration. CONCLUSION: The majority of lung cysts decrease in size on expiration suggesting that they communicate with the airways.

Small airway diseases.

High-resolution CT scan is currently the best imaging technique for assessment of diseases of the bronchioles. This article describes the anatomic basis for the findings. This is followed by a presentation of the findings in bronchiolitis, as it is currently classified, into five main groups: (1) cellular bronchiolitis, (2) panbronchiolitis, (3) respiratory bronchiolitis, (4) constrictive bronchiolitis, and (5) bronchiolitis obliterans with intraluminal polyps.

Churg-Strauss syndrome: the spectrum of pulmonary CT findings in 17 patients.

OBJECTIVE: The aim of this study was to evaluate the pulmonary CT findings in patients with Churg-Strauss syndrome to determine the frequency and nature of parenchymal abnormalities. MATERIALS AND METHODS: CT examinations performed at the time of diagnosis in 17 patients with Churg-Strauss syndrome were retrospectively evaluated by two observers who reached a decision by consensus about the presence and nature of parenchymal abnormalities. High-resolution CT (1- to 3-mm collimation) was performed in 14 patients and conventional CT (6- to 10-mm collimation) was performed in three cases. RESULTS: Predominant CT findings consisted of parenchymal opacification (consolidation or ground-glass attenuation) (n = 10), pulmonary nodules (n = 2), bronchial wall thickening or dilatation (n = 2), interlobular septal thickening (n = 1), and normal anatomy (n = 2). Parenchymal opacification was predominantly peripheral (n = 6) or random in distribution (n = 4). CONCLUSION: The most common CT finding in patients with Churg-Strauss syndrome consists of areas of parenchymal opacification that may be random or peripheral in distribution. These findings are nonspecific.

Pulmonary complications after bone marrow transplantation: high-resolution CT and pathologic findings.

A wide variety of pulmonary complications occur in bone marrow transplant (BMT) recipients and are a major cause of morbidity and death. High-resolution computed tomography (CT) is excellent in the detection of pulmonary abnormalities, but these findings are generally nonspecific. However, the different complications, which reflect the immunologic status of the patients, occur in three phases. This pattern can be used to interpret CT scans. The neutropenic phase (up to 3 weeks after BMT) is characterized by fungal infections, notably angioinvasive aspergillosis, alveolar hemorrhage, pulmonary edema, and drug reactions. At CT, angioinvasive aspergillosis appears as a nodule surrounded by a halo of ground-glass attenuation; alveolar hemorrhage and drug reactions, as bilateral areas of ground-glass attenuation or consolidation; and pulmonary edema, as prominent pulmonary vessels, interlobar septal thickening, ground-glass attenuation, and pleural effusions. The second phase (3 weeks to 100 days after BMT) is dominated by cytomegalovirus pneumonia, which appears as multiple small nodules with associated areas of consolidation or ground-glass attenuation, and Pneumocystis carinii pneumonia, which appears predominantly as ground-glass attenuation. The late phase (more than 100 days after BMT) is characterized by bronchiolitis obliterans, bronchiolitis obliterans with organizing pneumonia (BOOP), and chronic graft-versus-host disease. In bronchiolitis obliterans, CT reveals bronchial dilatation and a mosaic pattern of attenuation; in BOOP, CT findings usually consist of patchy consolidation or ground-glass attenuation. If CT findings are considered in relation to the time elapsed after BMT, diagnostic options can be narrowed sufficiently to enable accurate diagnosis.

Bronchiolitis obliterans after lung transplantation: high-resolution CT findings in 15 patients.

OBJECTIVE: The purpose of this study was to compare the high-resolution CT findings in patients with pathologically proven bronchiolitis obliterans after lung transplantation with high-resolution CT findings in control subjects. MATERIALS AND METHODS: High-resolution CT examinations of 15 patients with pathologically proven bronchiolitis obliterans after lung transplantation and 18 control subjects were retrospectively evaluated by two independent observers who were unaware of the diagnosis in each case. All 33 subjects underwent inspiratory high-resolution CT. Five patients with bronchiolitis obliterans and 16 control subjects underwent expiratory CT. RESULTS: Findings in patients with bronchiolitis obliterans included bronchial dilatation in 80%, mosaic perfusion in 40%, bronchial wall thickening in 27%, and air trapping in 80%, compared with the control subjects with bronchial dilatation in 22%, mosaic perfusion in 22%, and air trapping in 6%. The combination of bronchial dilatation on the inspiratory CT scan and air trapping on the expiratory CT scan was seen only in patients with bronchiolitis obliterans. We calculated good agreement between the two observers (kappa > or = .63). CONCLUSION: Air trapping and bronchial dilatation were the two most sensitive and specific findings on high-resolution CT scans of patients with bronchiolitis obliterans. The combination of these two findings was seen exclusively in patients with bronchiolitis obliterans.

The role of duplex sonography and angiography in the investigation of carotid artery disease.

Some patients with symptomatic carotid stenoses of greater than 70 % benefit from carotid endarterectomy. This study was designed to compare the accuracy of duplex ultrasound with angiography in assessing the degree of carotid stenosis in 73 patients with symptoms of recent carotid territory ischaemia. Ultrasound was found to be most accurate in the group of patients with normal vessels or mild stenoses (0-29 %) when there was 90 % concordance between ultrasound and angiography. Ultrasound was found to be least accurate in the group of patients with severe stenoses (70-99 %) in whom it was more likely to underestimate than to overestimate the degree of stenosis. Only one patient said to have < 30 % stenosis on ultrasonography had a > 70 % stenosis on IADSA. Our results indicate that patients with normal arteries or mild disease shown by ultrasound have a very small chance of having surgically amenable lesions in the neck. Ultrasound is reliable as an exclusory screening test. However, all other stenoses should also be investigated by catheter angiography if surgery is considered. Taking angiography as the reference, only 52 % of patients with severe stenoses, which might be taken as an indication for surgery, were correctly identified on ultrasonography. Ultrasound alone is a poor technique for identifying patients for surgery and a combination of ultrasound screening with angiography for > 30 % stenoses detected by ultrasound is recommended.

Incidental intracranial vascular pathology in patients investigated for carotid stenosis.

The assessment of cervical and cranial carotid arteries for atherosclerotic disease is the second commonest referral for angiography in our neuroradiological department; in 1993 this accounted for approximately 17% of the total cases. This is due to the resurgence of interest in endarterectomy for severe carotid stenosis. Although the degree of stenosis can usually be assessed adequately by duplex Doppler ultrasonography, angiography is still recommended as a preoperative examination. The intracranial vessels are visualised, which we consider important when planning vascular surgery. We present a prospective study of 100 patients referred for angiographic assessment of carotid stenosis. As well as giving information about the carotid bifurcation, angiography showed 9 patients to have aneurysms, 2 arteriovenous malformations and 15 severe intracranial atherosclerosis. We consider these "incidental" findings important for future management and highlight the need for thorough assessment of the intracranial vessels in these patients by angiography.

Acute lung disease in the immunocompromised host: differential diagnosis at high-resolution CT.

The aim of this manuscript is to review the CT findings of pulmonary complications seen in acquired immunodeficiency syndrome (AIDS) and in non-AIDS immunocompromised patients. The most common pulmonary complications in patients with AIDS include infection, Kaposi's sarcoma, and AIDS-related lymphoma. The most common complications seen in non-AIDS immunocompromised patients include infection, drug-induced lung disease, diffuse pulmonary hemorrhage, and pulmonary edema.

Case report: multiple thoracic haemangiomas--a rare cause of spinal cord compression.

Benign haemangiomas are a rare cause of mediastinal masses. We present a patient with multiple thoracic wall and mediastinal haemangiomas who developed spinal cord compression as a result of extradural extension of the haemangiomas. This is a rare cause of spinal cord compression.

Unusual CT appearances with a supratentorial meningioma.

The majority of intracranial meningiomas are isodense, well-marginated masses, adjacent to a dural surface. They show intense uniform enhancement following intravenous contrast. Atypical appearances can occur. Hypodense meningiomas have been described due to necrosis, cystic change or lipidisation of the tumour. A meningioma is described which showed two unusual features on computed tomography-a uniformly hypodense mass on an unenhanced scan and only minimal contrast enhancement. Extensive lipidisation of the tumour was demonstrated histologically.

Low-reflectivity periportal collar on hepatic ultrasound.

A low attenuation periportal collar is frequently found on computed tomography (CT) in association with a variety of liver diseases and other conditions (Lawson, T L, Thorsen, M K, Erikson, S J et al, Periportal halo: a CT sign of liver disease, Abdom. Imaging, 18, 42-46 (1993)). Abnormal periportal intensity has been reported on magnetic resonance imaging (MRI) in various hepatobiliary diseases. Transient low reflectivity periportal cuffing has recently been described and was presumed to be due to periportal lymphoedema associated with malignant lymphadenopathy. We report the finding of such bands in four patients with chronic hepatobiliary disease and present the associated histological findings.