Ocena radiologiczna płuc u dzieci z mukowiscydozą rozpoznaną w wyniku badania przesiewowego noworodków

Background: Cystic fibrosis is an inherited, autosomal, recessive disease. This disorder is caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR), which encodes for a protein that functions as a chloride channel. Mutations in the gene for CFTR result in ion disorders, and consequently in disturbances of exocrine glands in the respiratory, gastrointestinal, and genitourinary tracts. Pulmonary involvement occurs in 90% of patients, and is the main cause of death. The diagnosis of CF in Poland is based on clinical symptoms and positive results of the sweat test. Diacrisis is usually reached late in the 3rd year of life. In 1999-2003, newborn screening examinations were performed at the Mother and Child Institute. The idea of these studies was to establish a diagnosis and begin treatment as early as possible, even in the asymptomatic period of the disease. The level of immunoreactive trypsynogen was determined in the blood of 4-6-day-old newborns, as well as the mutation of gene CFTR. The mean age of CF diagnosis was about 38 days. The aim of our study was to assess the influence of early commencement of treatment on the rapidity of progression of pulmonary involvement. Material/Methods: 59 children with CF diagnosed by screening were examined by chest radiography in various periods of the disease, the earliest in the neonatal period. Pulmonary involvement (hyperinflation, periobronchial thickening, pulmonary nodules, cysts, parenchymal density, atelectasis and fibrosus changes) were assessed according to Brasfield score. The control group consisted of 19 children with symptomatic CF, born in 1997-2003.They were also examined by chest radiography. Results: Various pulmonary changes were recognized in 42 children diagnosed by screening. In the control group pulmonary involvement was found in 16 children. In both groups progression was found in 28% of the children, but significant progression was seen in 7% of those children with a screening diagnosis, and in 25% of the children with symptomatic CF. Conclusions: An analysis of these results suggests that early diagnosis and early commencement of treatment do not prevent pulmonary involvement, but moderate the progression of the disease

The symptomatology of aneurysmal bone cyst : the value of diagnostic imaging

Background: An aneurysmal bone cyst (ABC) is a benign lesion occurring mainly in children. Generally it is found in the metaphyses of long bones and in flat bones. Osteolysis, bone expansion, thinning of the cortex, osseous septa and fluid levels belong to the typical imaging findings in ABC cases. The purpose of the study was to determine the value of imaging methods: plain x-ray films, US, CT and MRI for the diagnosis of aneurysmal bone cyst and to work out the diagnostic algorithm for an ABC suspected on plain radiograms. Material/Methods: The material consists of 72 patients (44 boys, 28 girls) aged 2-23 years (mean age 12 yrs) with bone lesions diagnosed as aneurysmal bone cysts on pathologic examination. In all patients, plain radiographs were performed, in 26 - sonography (US), in 41 - computed tomography (CT), in 8 - magnetic resonance imaging (MRI). All the examinations were analyzed according to own system of evaluation of typical presentation in the particular methods. The histopathological diagnosis was established after biopsy or surgery. Results: The aneurysmal bone cysts were most frequently located in the long bones of the lower limbs (43%), in the long bones of the upper limbs (26.4%) and in flat bones (25%). The localization was mainly in the bone methaphyses (56.6%). On pathological examination, primary ABC was diagnosed in 65.3% of cases, secondary ABC in 23.6%, ABC and concomitant osteitis in 7%, ABC and giant cell tumor in 2.7%, ABC and chondrosarcoma in 1.4%. The application of four methods resulted in 72.2% consistency between diagnostic imaging and pathological examination. In case of only one method used the consistency was 75% for MRI, 63% for CT, 55.4% for plain films and 50% for US. In 100% of misdiagnosed cases there were no septa within osteolytic lesions on plain films, whereas in 43.8% features of malignancy were found. In 53% of misdiagnosed cases no fluid levels were observed on CT and in 69% on US. Conclusions: 1. The diagnosis of aneurismal bone cyst based on plain radiography is possible in cases with typical radiological signs. 2. Application of other methods significantly increases the percentage of correct diagnoses. 3. Lack of fluid levels does not exclude the diagnosis of ABC. 4. Imaging features of malignancy do not exclude the diagnosis of ABC

Seventeen years of prenatal magnetic resonance imaging at the Institute of Mother and Child in Warsaw

Purpose: The purpose of this paper is to summarise and to present the experience of the main Polish centre for prenatal magnetic resonance imaging (MRI) and to discuss the place and role of MRI in antenatal diagnosis, management, and counselling. Material and methods: Retrospective analysis of the examinations performed in the years 2001-2017. Results: In total, 1221 medical records and/or image files were collected. The full documentation of ultrasonography and MRI referrals, reports, and images was not available in every case. During the first three years 98 pregnant women were examined (approximately 33 per year, one study per fortnight). After purchase of own MR scanner, the number of examinations grew constantly, reaching 208 in 2017, which means almost one per day, and the highest number was eight in one day. We examined 45 pairs of twins, including three pairs of conjoined twins. Conclusions: MRI at our Institute is a practically used second-line foetal imaging tool, necessary to confirm, complete, or correct sonographic diagnoses, with important impact on clinical decisions concerning management of pregnancy and of the neonate, termination of pregnancy, choice of the time, place, and mode of delivery, and neonatal care, as well as on counselling. In experienced hands, MRI is to date the last and the best non-invasive method of diagnosis in utero. It is frequently requested by the interdisciplinary team for foetal diagnosis and therapy and routinely performed in everyday practice

Bilateral pneumothorax in a case of a 20-year-old woman with metastatic malignant mesenchymoma of the pelvis minor and perineum

We present a rare case of bilateral, recurrent and persistent pneumothorax, requiring suction drainage, as a complication of metastatic spread of a malignant neoplasm to the lungs

Obrazowanie MR u dzieci z nerwiakowłókniakowatością typu 1 (NF1) : zmiany wewnątrz- i pozaczaszkowe

Background: Type 1 neurofibromatosis (NF1) may be manifested by a variety of changes in the central nervous system (CNS) and in other organs. The risk of malignancy is increased in these patients. The purpose of the study was to present the utility of magnetic resonance imaging (MRI) in the visualization of lesions and in monitoring of the disease and its therapy in children with NF1. Material/Methods: We analyzed retrospectively 128 MRI scans in 44 children diagnosed with NF1, treated in the Institute of Mother and Child in Warsaw. The analyzed group consisted of 19 boys and 25 girls, aged 1-24 years, mean age 10.8 yrs. MRI examinations were performed in the years 2004-2008 with a 1.5 T scanner. There were 76 brain scans and 52 examinations of other regions of the body. Results: Brain lesions were found on MRI in 27 children (64.2%); there were UBOs in 26/42 (62.2%) patients and optic nerves gliomas in 11/42 (26.2%) children. In 3 cases, evolution of UBOs was observed over the time. Extracranial lesions were visualized in 52 MR examinations in 20 children. Very extensive plexiform neurofibromas compressing abdominal and pelvic organs were observed, and 3 cases of spinal canal invasion, with spinal cord compression in one patient. Malignant lesions were found in 3 patients: 2 malignant peripheral nerve sheath tumors (MPNST) and 1 rhabdomyosarcoma (RMS). The MRI characteristics of intra- and extracranial lesions is presented. Conclusions: Children with NF1 require constant care in the specialized center with a multidisciplinary team and MRI equipment available. MR examination in the best imaging method in children with NF1, allowing both diagnosis and monitoring of the patients, especially evaluation of lesions suspicious of malignancy, as well as treatment planning

Miliary brain metastases from papillary adenocarcinoma of the lung : unusual MRI pattern with histopathologic correlation

Miliary brain metastases are very rarely described in the literature but if they are, they are quite obvious on magnetic resonance imaging (MRI) and enhance after intravenous administration of the contrast medium. The authors presented a case of miliary metastatic spread to the brain which was invisible on computed tomography and hardly visible on MRI, i.e. as countless, tiny, slightly T1-hyperintense foci that did not enhance. The authors discussed a few T1-hyperintense brain lesions which did not include metastases (except for metastatic melanoma which was a radiological suggestion after brain MRI). Autopsy revealed papillary adenocarcinoma of the lung with numerous metastatic lesions in both cerebral and cerebellar hemispheres and the meninges

The value of magnetic resonance imaging in the early diagnosis of Creutzfeldt-Jakob disease : own experience

Background: Creutzfeldt-Jakob disease (CJD) is a rare progressive neurodegenerative disorder, caused by the deposition of the pathological isoform of prion protein PrPsc in the central nervous system. The classic triad of symptoms consists of: rapidly progressive dementia, myoclonus and typical electroencephalographic findings (intermittent rhythmic delta activity and periodic sharp wave complexes). Detection of 14-3-3 protein in the cerebrospinal fluid plays an important diagnostic role as well. Magnetic resonance (MR) images of the brain have been recently incorporated into the diagnostic criteria of sporadic Creutzfeldt-Jakob disease. Case Report: MR examinations were performed in a 65-year-old man and a 54-year-old woman with delusional disorder and cognitive dysfunction, respectively. Diffusion restriction (hyperintense signal in DWI) was shown in the cortex of the left parietal and occipital lobe in the first patient and symmetrically in the cortex of both cerebral hemispheres except for precentral gyri in the second one. In both cases, the first examinations were misread, with the suspicion of ischemic infarcts as the first differential diagnosis. Consultations and subsequent MR examinations in which lesions in subcortical nuclei appeared allowed for a diagnosis of probable CJD. In the first case it was confirmed by clinical picture, EEG and finally - autopsy. In the second case, EEG was not typical for CJD but the clinical course of the disease confirmed that diagnosis. Conclusions: The authors present the cases of two patients with characteristic MR images that allowed early diagnosis of probable Creutzfeldt-Jakob disease before the characteristic clinical picture appeared. Early diagnosis is nowadays important for the prevention of disease transmission and in the future - hopefully - for early treatment

Arterial spin labeling in neonatal magnetic resonance imaging : first experience and new observations

Purpose: Arterial spin labeling (ASL) is a noninvasive non-contrast technique of perfusion imaging that uses endogenous water from the blood as the perfusion tracer, with very scant data on its use in neonates. The authors present the added value of ASL in the examined babies in their own material and discuss it in the light of the existing literature. Material and methods: During the first 10 months after the purchase of a new magnetic resonance imaging (MRI) scanner, 123 neonates were examined using it in an MR-compatible incubator, 117 of them had brain MRI, and in 104 ASL was incorporated in the routine protocol, which resulted in prolongation of the study time by approximately 4 minutes. 3D ASL sequence uses Pulsed Continuous Arterial Spin Labeling (PCASL; aka pseudo continuous) technique. Results: The quality of the cerebral blood flow (CBF) maps was good in all cases but 2 because all the babies were sedated. Apart from the knowledge about normal perfusion patterns in the preterm and term neonatal brains, the use of ASL sequence provided important additional information in 11 cases (10.8%): increased CBF correlating with electroencephalographic seizure localization in otherwise normal MRI (n = 1), increased CBF in the cortex without clinical information about seizures and with posthaemorrhagic changes (n = 1), increased CBF in the brain stem and decreased in the upper parts of the brain (n = 2), probably reflecting the homeostatic mechanism which allows preferential perfusion of the vital structures of the brain stem, hypoperfusion (n = 1) or hypoperfusion with peripheral hyperperfusion (n = 1) in the area of stroke, hypoperfusion of the posterior areas of the brain in the presence of subarachnoid or epidural haemorrhage (n = 3), significantly increased CBF in the presumed nidus of arteriovenous malformation causing haemorrhage (n = 1), and lack of perfusion in the supratentorial compartment in a case of suspected brain death (n = 1). Conclusions: Our short experience but relatively large volume of material encourages the use of ASL in routine neonatal MRI as a useful and non-time-consuming tool providing additional important clinical information in a significant percentage of cases

Postradiotherapeutic changes and their evolution in MRI in children with aggressive soft tissue tumors

Background: Magnetic resonance imaging is a commonly used method of monitoring of soft tissue tumours. The aim of the work was to describe precisely the typical changes within soft tissues and bones occurring after radiotherapy in children treated for sarcomas and other soft tissue tumours. With time, the changes undergo evolution and their characteristics and comparison with previous examinations help in a difficult differentiation between tumour lesions and posttherapeutic changes. Material/Methods: Fifteen children and young adolescents (9 boys and 6 girls) aged between 2 and 22 years (mean age of 13.4 years) with diagnosed aggressive soft tissue tumours, were treated with radiotherapy. There were 102 MRI examinations analysed in the period from February 2004 to February 2008. The examinations were performed with a 1.5T MRI scanner in the following sequences: SE T1, SE T1+fatsat, before and after gadolinium administration (Gd), FSE T2 and STIR in three planes, and, in some selected cases, a dynamic gadolinium-enhanced (DCE MRI) examination with FAME sequence. Histopathological examinations showed: rhabdomyosarcoma (RMS) in 8 cases, synovial sarcoma - 3, agressive desmoid fibroma - 3, mesenchymoma mal. - 1. MRI examinations were performed at different postradiotherapeutic stages, several times in one patient (12 times at the most). Results: Every postirradiation stage revealed a typical picture of posttherapeutic changes. We distinguished four stages and described changes in different sequences within soft tissues and bones, as well as features of contrast enhancement and enhancement curves in a dynamic study. The stages included: I stage - early, up to 3 months after rth, II stage - chronic, from 3 months to 12 months after rth, with some differences between the following periods: • 3-9 months; 9-12 months; III stage - late, from 1 to 3 years after rth, IV stage - distant, more than 3 years after rth. In the early stage, there were 2 cases with a suspicious, equivocal image of postradiotherapeutic changes. In the chronic stage, there was one recurrence and one case of increasing changes after the therapy. However, the changes resolved in subsequent examinations. In the distant stage, we found two cases of a local recurrence. Conclusions: 1. MRI is a method of choice in the monitoring of treatment of aggressive soft tissue tumours and in diagnosis of recurrence. 2. To interpret the examination results, it is very important to know the MRI characteristics of changes after radiotherapy and their evolution with time. 3. Interpretation of MRI images and differentiation between postradiotherapeutic and neoplastic changes is difficult, especially at an early postradiotherapeutic stage. 4. A dynamic MRI examination may be useful in the differentiation between postradiotherapeutic and neoplastic changes but it may be unreliable at an early postradiotherapeutic stage. 5. When interpreting the results, it is very important to compare the image with the previous ones. It is therefore indicated to carry out a baseline MRI in the early postradiotherapeutic stage, and then further follow-up images, at several-month intervals