Comparative evaluation of chest radiography, low-field MRI, the Shwachman-Kulczycki score and pulmonary function tests in patients with cystic fibrosis.

The aim of this study was to investigate whether the parenchymal lung damage in patients suffering from cystic fibrosis (CF) can be equivalently quantified by the Chrispin-Norman (CN) scores determined with low-field magnetic resonance imaging (MRI) and conventional chest radiography (CXR). Both scores were correlated with pulmonary function tests (PFT) and the Shwachman-Kulczycki method (SKM). To evaluate the comparability of MRI and CXR for different states of the disease, all scores were applied to patients divided into three age groups. Seventy-three CF patients (mean SKM score: 62 +/- 8) with a median age (range) of 14 years (7-32) were included. The mean CN scores determined with both imaging methods were comparable (CXR: 12.1 +/- 4.7; MRI: 12.0 +/- 4.5) and showed high correlation (P < 0.05, R = 0.97). Only weak correlations were found between imaging, PFT, and SKM. Both imaging modalities revealed significantly more severe disease expression with age, while PFT and SKM failed to detect early signs of disease. We conclude that imaging of the lung in CF patients is capable of detecting subtle and early parenchymal destruction before lung function or clinical scoring is affected. Furthermore, low-field MRI revealed high consistency with chest radiography and may be used for a thorough follow-up while avoiding radiation exposure.

Primary intestinal aspergillosis after high-dose chemotherapy and autologous stem cell rescue.

Primary invasive aspergillosis of the gut is a rare event and is associated with high mortality. We report for the first time on a patient who had isolated aspergillosis of the small bowel after autologous stem cell transplantation. Diagnosis of invasive aspergillosis of the gut was based on abdominal pain, galactomannan antigenemia and isolation of Aspergillus fumigatus from the stool and was later confirmed by pathohistologic examination. No other site of invasive aspergillosis was evident. The patient was successfully treated with early surgery and combination antifungal therapy.

Severe isolated pulmonary Langerhans cell histiocytosis in a 6-year-old girl.

UNLABELLED: Langerhans cell histiocytosis (LCH) usually affects different organs or bones. Isolated pulmonary disease is rare in childhood. We report about a 6-year-old girl with progressive pulmonary insufficiency, onset of clubbing at 4 years of age and honeycombing lung infiltrations on X-ray films. The radiological suspicion of primary pulmonary LCH was confirmed by the presence of CD1a positive cells in the bronchoalveolar lavage fluid. Other organs were not involved. The girl was treated according to the LCH-III International Study Protocol with a good response. Follow-up showed no reactivation of LCH but a reduced vital capacity and signs of interstitial pulmonary involvement on a CT scan. CONCLUSION: Langerhans cell histiocytosis should be considered in the aetiology of cystic lung diseases. Early responders to treatment have a high likelihood of becoming free of disease. However, pulmonary fibrosis is an important mechanism of lung remodelling in pulmonary Langerhans cell histiocytosis and the long-term prognosis is unclear.

Combination therapy with caspofungin and liposomal amphotericin B for invasive aspergillosis.

Ina 24-month-old girl with acute lymphoblastic leukemia and invasive aspergillosis, only combination therapy with liposomal amphotericin B and caspofungin achieved a good response. Combination therapy could be a useful treatment option in children with invasive fungal disease, but before it can be routinely recommended, carefully controlled in vivo studies and well-designed randomized clinical trials are needed.

Alport syndrome with diffuse leiomyomatosis.

Alport syndrome (AS) is a hereditary nephropathy with hematuria progressing to end-stage renal failure (ESRF), sensorineural deafness, and specific eye signs (lenticonus, macular flecks, and congenital cataracts). Inheritance is X-linked in about 85% of the cases, caused by different mutations in the COL4A5 gene. Rarely AS is seen in combination with diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract. Characteristically, the patients have deletions of the 5'-end of both the COL4A5 and the COL4A6 genes, respectively. We here present a 9-year-old boy who was admitted because of a newly diagnosed sensorineural deafness. He was born with cataracts and presented symptoms of dysphagia and bronchial irritation in the first year of life. Macroscopic hematuria was first noticed at 2 years during a febrile infection. Since early childhood the boy suffered from severe constipation. Taking together these symptoms, the diagnosis of Alport syndrome with diffuse leiomyomatosis (AS-DL) has to be considered. Genetic analysis demonstrated the predicted deletion of the COL4A5/COL4A6 genes.