Dynamic expiratory CT: An effective non-invasive diagnostic exam for fragile children with suspected tracheo-bronchomalacia.

BACKGROUND: Tracheobronchomalacia, defined as variable collapse of the airways, has been recognized as an important cause of respiratory morbidity but still widely underdiagnosed. Bronchoscopy is still considered as the gold standard, but numerous limitations are known, especially for fragile sick children. Moreover, information on parenchymal lung disease cannot be described. There is a real need for a reliable, non-invasive test to help detection of airway and parenchymal malformations in children, specifically when bronchoscopy cannot be performed. METHODS AND RESULTS: 34 paediatric patients underwent cine multidector CT for ongoing respiratory symptoms and were included. All CT images were of good quality and sedation was never needed. Airway disease such as trachea-broncomalacia with/without stenosis was described in 53% with the first being more frequent. Bronchomalacia alone was described in 10 patients and in 4 patients was associated with tracheomalacia. Moreover, CT allowed identification of parenchymal disease in 10 patients. Airways stenosis alone was detected in seven patients. The majority of patients (85%) underwent also bronchoscopy for clinical decision. The agreement between CT and bronchoscopy was explored. The two examinations did not agree only in two cases. CT dynamic showed an excellent sensitivity of 100% (81.47-100 %), a great specificity of 82% (48.22-97.72 %), NPV 100%, and PPV 90% (72-96.9 %). CONCLUSION: Dynamic CT results an effective and highly sensitive diagnostic exam for children with tracheo-bronchomalacia. CT is especially indicated for those small and fragile patients that cannot undergo an invasive investigation. Moreover, CT allows a detailed evaluation both of the airways and the lungs which is useful for the clinical management.

Radiological patterns of childhood thoracic tuberculosis in a developed country: a single institution's experience on 217/255 cases.

The incidence of tuberculosis is increasing in the developed world and children in particular represent a high-risk group for developing the disease. The aim of this review is to analyse the spectrum of radiological signs as reported in the recent literature, in light of our series over a 15-year period, to pinpoint the most common radiological patterns in a developed country and to determine the role played by the different chest imaging techniques in diagnosis improvement. Lung TB was present in 217 out of 255 patients (85 %): 146 patients were under 5 years of age (76 under 2 years) and 71 over 5 years (41 over 10 years). We describe different patterns differentiating adolescents and young adults from infants and children. Adolescents and young adult tuberculosis are apical and cavitary. Thoracic TB in infants and children is characterized by lymph node and parenchymal disease. In 21 cases with lymphadenopathies without lymph-bronchial diffusion (age range 2 months-7 years), CT identified the Ghon focus in 16/21 cases; chest X-ray never identified the Ghon focus. In our series, pleural TB was present in 8 cases out of 146 under 5 years of age, 5 cases out of 76 under 2 years, and 18 cases out of 71 over 5 years. Radiologists should be aware of typical patterns of tuberculosis, to provide an early diagnosis.

NRAS(Q61K) mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications.

BACKGROUND: Primary melanocytic neoplasms are rare in the pediatric age. Among them, the pattern of neoplastic meningitis represents a peculiar diagnostic challenge since neuroradiological features may be subtle and cerebrospinal fluid analysis may not be informative. Clinical misdiagnosis of neoplastic meningitis with tuberculous meningitis has been described in few pediatric cases, leading to a significant delay in appropriate management of patients. We describe the case of a child with primary leptomeningeal melanoma (LMM) that was initially misdiagnosed with tuberculous meningitis. We review the clinical and molecular aspects of LMM and discuss on clinical and diagnostic implications. CASE PRESENTATION: A 27-month-old girl with a 1-week history of vomiting with mild intermittent strabismus underwent Magnetic Resonance Imaging, showing diffuse brainstem and spinal leptomeningeal enhancement. Cerebrospinal fluid analysis was unremarkable. Antitubercular treatment was started without any improvement. A spinal intradural biopsy was suggestive for primary leptomeningeal melanomatosis. Chemotherapy was started, but general clinical conditions progressively worsened and patient died 11 months after diagnosis. Molecular investigations were performed post-mortem on tumor tissue and revealed absence of BRAF(V600E), GNAQ(Q209) and GNA11(Q209) mutations but the presence of a NRAS(Q61K) mutation. CONCLUSIONS: Our case adds some information to the limited experience of the literature, confirming the presence of the NRAS(Q61K) mutation in children with melanomatosis. To our knowledge, this is the first case of leptomeningeal melanocytic neoplasms (LMN) without associated skin lesions to harbor this mutation. Isolated LMN presentation might be insidious, mimicking tuberculous meningitis, and should be suspected if no definite diagnosis is possible or if antitubercular treatment does not result in dramatic clinical improvement. Leptomeningeal biopsy should be considered, not only to confirm diagnosis of LMN but also to study molecular profile. Further molecular profiling and preclinical models will be pivotal in testing combination of target therapy to treat this challenging disease.

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.

BACKGROUND: Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. CASE PRESENTATION: We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome. CONCLUSIONS: The disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.

Wandering spleen in children: a report of 3 cases and a brief literature review underlining the importance of diagnostic imaging.

BACKGROUND: Wandering spleen is a rare condition in children that is often caused by loss or weakening of the splenic ligaments. Its clinical presentation is variable; 64% of children with wandering spleen have splenic torsion as a complication. OBJECTIVE: To provide up-to-date information on the diagnosis, clinical management and diagnostic imaging approaches for wandering spleen in infants and children and to underline the importance of color Doppler US and CT in providing important information for patient management. MATERIALS AND METHODS: We report a series of three children with wandering spleen treated at our children's hospital over the last 6 years. All three underwent clinical evaluation, color Doppler US and CT and were surgically treated. We also reviewed 40 articles that included 55 patients younger than 18 years reported in the Medline database from 2002 to 2012. RESULTS: We correlated pathological data with imaging findings. Color Doppler US, the first imaging modality in investigating abdominal symptoms in children with suspected wandering spleen, yielded a diagnostic sensitivity of 54.9%, whereas CT achieved about 71.7%. CONCLUSION: Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery.

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.

NK2 homeobox-1 (NKX2.1) gene encoding the thyroid transcription factor-1 (TTF-1) plays a critical role in lung, thyroid, and central nervous system morphogenesis and function; mutations cause a rare form of progressive respiratory failure associated with alterations of surfactant synthesis, composition, and homeostasis. Molecular mechanisms are heterogeneous and poorly explored. A 28 days old male, soon after birth, presented respiratory failure requiring oxygen treatment at FiO2 27%, prolonged for 2 weeks. Routine neonatal screenings detected a high thyroid stimulating hormone concentration. On day 27 congenital hypothyroidism was confirmed and substitutive treatment was begun. Since the persistence of respiratory symptoms sweat test, CFTR mutation, lymphocyte subpopulations, and sputum cultures were tested, resulting negative. Brain and cardiac defects were also ruled out. Bronchoscopy and BAL analysis were normal. Computed tomography showed bilateral multiple ground glass attenuation, consolidative areas and diffuse bronchial wall thickening. Based on the severity of symptoms, the exclusion of other causes of respiratory disease and the CT findings of interstitial lung disease, we investigated genes affecting the surfactant homeostasis. Sequencing analysis of the three exons of the TTF1 revealed a heterozygous mutation c.334G > T that results in the replacement of glycine in position 112 with a stop codon, generating a nonsense protein that lacks the correct transactivation domain in the C-terminal region. Genetic analysis of the family showed that the father, who was asymptomatic, carried the mutation. Screening for TTF-1 deletions or mutations should always be considered in children with congenital hypothyroidism and an unexplained neonatal respiratory distress or neurodevelopmental deficits.

Late diagnosis of double aortic arch: consequences on long-term follow-up.

Double aortic arch is the most common congenital anomaly of the aortic arch system, in which the trachea and esophagus are completely encircled by vascular segments of the aortic arch and its branches, often resulting in variable airway compression. One case of late diagnosis of this congenital malformation and long-term consequences of late surgical treatment with persistent tracheo-broncomalacia and dynamic airway obstruction is reported. This report emphasizes the importance of an early diagnosis to minimise the progressive airways damage and subsequent respiratory symptoms, that need an accurate medical follow-up.

Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL.

Ectopic origin of bronchial arteries: assessment with multidetector helical CT angiography.

The purpose of this study was to determine non-invasively the frequency of ectopic bronchial arteries (BA) (i.e., bronchial arteries originating at a level of the descending aorta other than T5-T6 or from any aortic collateral vessel) on multidetector-row CT angiograms (CTA) obtained in patients with hemoptysis. Over a 5-year period (2000-2005), 251 consecutive patients with hemoptysis underwent multidetector-row CT angiography of the thorax. From this population, 37 patients were excluded because of a suboptimal CTA examination (n = 19), the presence of extensive mediastinal disease (n = 15) or severe chest deformation (n = 3) precluding any precise analysis of the bronchial arteries at CTA. Our final study group included 214 patients who underwent a thin-collimated CT angiogram (contrast agent: 300 to 350 mg/ml) on a 4- (n = 56), 16- (n = 119) and 64- (n = 39) detector-row scanner. The site of origin and distribution of bronchial arteries were analyzed on transverse CT scans, maximum intensity projections and volume-rendered images. The site of the ostium of a bronchial artery was coded as orthotopic when the artery originated from the descending aorta between the levels of the fifth and sixth thoracic vertebrae; all other bronchial arteries were considered ectopic. From the studied population, 137 (64%) patients had only orthotopic bronchial arteries, whereas 77 patients (36%) had at least one bronchial artery of ectopic origin. A total of 147 ectopic arteries were depicted, originating as common bronchial trunks (n = 23; 19%) or isolated right or left bronchial arteries (n = 101; 81%). The most frequent sites of origin of the 124 ostiums were the concavity of the aortic arch (92/124; 74%), the subclavian artery (13/124; 10.5%) and the descending aorta (10/124; 8.5%). The isolated ectopic bronchial arteries supplied the ipsilateral lung in all but three cases. Bronchial artery embolization was indicated in 26 patients. On the basis of CTA information, (1) bronchial embolization was attempted in 24 patients; it was technically successful in 21 patients (orthotopic BAs: 6 patients; orthotopic and ectopic BAs: 3 patients; ectopic BAs: 12 patients) and failed in 3 patients due to an instable catheterization of the ectopic BAs; the absence of additional bronchial arterial supply and no abnormalities of nonbronchial systemic arteries at CTA avoided additional arteriograms in these 3 patients; (2) owing to the iatrogenic risk of the embolization procedure of ectopic BAs, the surgical ligation of the abnormal vessels was the favored therapeutic option in 2 patients. This study enabled the depiction of ectopic bronchial arteries in 36% of the studied population, important anatomical information prior to therapeutic decision making.

Magnetic Resonance Enteroclysis imaging of Crohn's.

AIM: The aim of our prospective study was to evaluate the diagnostic accuracy of MR Enteroclysis (MRE) to assess the extension and complications of Crohn's Disease (CD) in comparison with conventional enteroclysis (CE). MATERIALS AND METHODS: The study comprised 30 consecutive patients affected by Crohn's disease (18 women and 12 men; age range 16-76, mean age 40.6 years), who underwent conventional and MR enteroclysis. The MR enteroclysis protocol includes three sequences: coronal and axial FIESTA and ssFSE sequences and T1-3D-FSPGR sequences before and after intravenous injection of gadolinium, acquired after administration of 1.6-2 l of iso-osmolar polyethylene glycol solution via a nasojejunal catheter. Two radiologists blindly scored each sequence for opacification of the lumen, small bowel distension and image quality and evaluated the following parameters: presence of wall ulcers, pseudopolyps, stenoses and fistulae. RESULTS: The accuracy of the FIESTA sequence was significantly higher (p<0.01) than the ssFSE and 3D FSPGR sequences in the evaluation of lumen opacification and bowel distension, and for the overall quality of the images (p<0.01). The sensitivity and specificity of MRE were 82% and 100% for the visualisation of parietal ulcers, 87% and 100% for pseudopolyps, 100% and 88% for stenoses, 75% and 100% for parietal fistulae. High-grade stenoses with prestenotic dilation (n=6) and low-grade stenoses (n=9) were visualised both by MRE and CE. MRE also showed abscesses in two patients, not seen at CE. The FIESTA and ssFSE sequences had higher accuracy in the detection of wall ulcers and fistulae, whereas the 3D FSPGR sequences showed higher accuracy in the evaluation of wall thickening. CONCLUSIONS: MRE is able to demonstrate the spectrum of superficial, intramural and exoenteric alterations in Crohn's disease and closely correlates with CE in demonstrating alterations of the bowel lumen and wall.

Diagnostic imaging in a case of a cystic lesion of the pancreas.

The case of a patient admitted to hospital for symptoms characterized by upper abdominal pain of pancreatic type associated with vomiting, is discussed. MRI was performed. It documented a focal fluid lesion apparently in communication with the dilated main pancreatic duct showing filling defects. Based on previous radiologic examinations performed elsewhere and MRI findings the diagnostic suspicion was of a cystic lesion. MRI was performed again for re-evaluation and lithotripsy was done; the patient was discharged with the diagnosis of chronic pancreatitis from alcohol abuse.

Computer-aided diagnosis.

The evolution of logic thought in relation to the predominant recent advances in technology is analyzed. In fact, the computer was the prime mover of this major change. At present the use of sophisticated software has allowed to attain increasingly accurate levels of simulation of human reasoning. The computer has determined profound transformations in many sectors of work, study and research. Among these, it is extremely relevant how the computer has completely transformed medicine and the medical role, especially in the field of radiology. Expert systems are the most interesting and futuristic applications of artificial intelligence. These systems are able to reproduce on a computer the behavior of an expert human being. Some of the recent innovations introduced in the field of breast, thoracic and mainly neural pathology are illustrated.