Specific Radiological Features Research Articles

Pancreatic ganglioneuroma: a rare entity with a difficult approach: a case report and systematic review

Ganglioneuroma is a very rare benign tumor, arising from neural crest cells in the sympathetic ganglia and adrenal medulla, that is generally located in the retroperitoneum and in the mediastinum; pancreatic involvement is unusual with less than 10 cases reported in the English literature. In this review, we analyzed the English literature published until March 2018, reporting the main features of pancreatic ganglioneuroma. In addition, we report a case of pancreatic ganglioneuroma, with an unknown pre- operative histological diagnosis, affecting a young woman, and treated with surgery. Among 84 identified articles, 79 were excluded and five articles were selected. These reported a total of 5 patients with pancreatic ganglioneuroma, with a median age of 17 years. Selected studies were performed in homogeneous populations. No data were reported about patients’ comorbidity, BMI, perioperative management and long- term outcomes. Due to the lack of specific radiological and cytological features, a correct preoperative diagnosis of ganglioneuroma is very challenging, making surgical resection the main curative option and the most frequent way to make a correct diagnosis.

Cardiac conduction devices in the radiologic comparative identification of decedents.

Cardiac conduction devices (CCDs), including pacemakers and implantable cardioverter-defibrillators (ICDs), are implanted in a significant part of the population, especially as the population becomes older. CCDs play an important role in forensic medicine; they are a valuable identification tool as the manufacturer information and unique serial numbers of the device can be matched with the medical records of the person of suspected identity after the device has been removed from the body. Radiological examinations such as X-ray or computed tomography (CT) can illustrate specific CCD features. A series of 12 selected cases is presented to highlight the ability of postmortem CT to visualize CCD details, contributing to possible comparative radiological identification in the case of suspected identity without the requirement of invasive removal. To date, unique patient-specific serial numbers, which are usually not radiopaque, cannot be visualized by imaging. However, a positive match of specific CCD radiologic features combined with other peculiar body findings between ante- and postmortem images can lead to a pure radiologic comparative identification.

Reversible lesion in the splenium of the corpus callosum.

Aim of ReviewThe presence of isolated, reversible lesions in the splenium of the corpus callosum (SCC) is essential to confirm the diagnosis of mild encephalitis/encephalopathy. The lesions usually heal within a month after the onset of neurological symptoms. Magnetic resonance imaging (MRI) has increasingly been used as a diagnostic tool, which has led to the publication of an increasing number of case reports. These have highlighted some inconsistencies about encephalitis/encephalopathy. First, the condition is not always mild and may be severe. Second, reversible lesions in the SCC have been identified in various diseases and conditions other than viral encephalitis/encephalopathy. Third, lesions in SCC are not always completely reversible. On this note, this review describes the specific clinical and radiological features of encephalitis/encephalopathy.FindingsThe reversible lesion in SCC is an MRI finding observable in a wide variety of diseases and conditions. Thus, it should be considered as a secondary change rather than a peculiar feature associated with mild encephalitis/encephalopathy. If reversible lesions are present in the SCC, the symptoms and prognosis are not necessarily favorable, with manifestations of encephalitis/encephalopathy varying from absent to severe. Neuroradiological features that appear as isolated high‐intensity signals on diffusion‐weighted images and a decreased apparent diffusion coefficient of the lesion might indicate a diagnosis of cytotoxic edema. Findings of previous studies suggest that cytokine‐mediated cytotoxic edema of the SCC may be an important pathophysiological manifestation of this condition.ConclusionThe reversible lesions in the SCC found on MRI are not exclusive to encephalitis/encephalopathy but may be secondary to other disorders.

Clinicopathological analysis of infantile/congenital fibrosarcomas with rare histological features

Objective: To analyze the clinicopathological features, immunohistochemical (IHC) phentotype,diagnosis and differential diagnosis of infantile/congenital fibrosarcoma (IFS/CFS) with unusual histological features. Methods: Five IFS/CFS at Children's Hospital of Fudan University from March 2014 to July 2018 were analyzed for their diagnosis and differential diagnosis. Results: Two cases were males, three cases were females. The clinical manifestation of IFS/CFS was a rapidly-growing and painless mass. There were no specific radiologic features. Histologically, the tumor cells are arranged in intersecting or sheet-like patterns. There were focal hemangioma-like areas in four cases. There were also focal areas of primitive asteroid, short-spindled, and oval tumor cells in three cases. IHC study showed the tumor cells diffusely expressed TLE1(2/5), Vimentin(5/5), and WT1(3/5), in a cytoplastic pattern; they focally expressed CD34(3/5), CD31(3/5), and α-SMA(2/5). Fluorescence in situ hybridization (FISH) detected break-apart positivity of ETV6 gene. Conclusions: Hemangioma-like pattern, myxoid area, and TLE1 expression is very rare in IFS/CFS. Detection of ETV6 gene break-apart by FISH is very helpful in the diagnosis and differential diagnosis of IFS/CFS.

OS9.3 Clinical, molecular and radiomic profile of gliomas with FGFR3-TACC3 fusion

Abstract PURPOSE Actionable oncogenic fusion FGFR3-TACC3 (F3T3) is found in 3% of gliomas. Our goal was to characterize the clinical, radiological and molecular features of patients with F3T3-positive glioma. PATIENTS AND METHODS Overall, we screened 1112 gliomas by RT-PCR (861 WHO grade IV, 140 grade III and 111 grade II) and identified 50 F3T3-positive cases. We performed a radiological and radiomic case control study. RESULTS F3T3 fusion was exclusively found in IDH wild-type gliomas. F3T3 was mutually exclusive with the EGFR amplification (0/38 versus 143/336 of F3T3-negative cases, P=0.01), whereas it was associated with CDK4 amplification (7/33 versus 22/321 of F3T3-negative cases, P=0.04) and MDM2 amplification (6/33 versus 15/354 of F3T3-negative cases, P=0.03). F3T3-positive gliomas showed a longer overall survival than F3T3-negative gliomas (median OS 40.1 and 20.0 months, P=0.02), particularly in the grade IV subgroup (40.1 versus 19.0 months, P=0.006). Multivariate analysis showed that F3T3 fusion is an independent predictor of favorable outcome for glioblastoma patients. F3T-positive gliomas were associated with involvement in non-eloquent areas (r=0.31 P=0.007), cortico-subcortical regions and insula involvement (adjusted p<0.001), poorly defined enhancing margins (r=0.48 P<0.001), poorly defined non-enhancing margins (r=0.61 P<0.001), and higher proportion of edema (r=0.43 P<0.001). Radiomics analysis correctly classified F3T3-positive glioma with an AUC of 0.82. We compared different Cox proportional hazards models using Harrel’s C-Index. Although radiomics alone obtained a high C-Index (0.75, SD 0.04), the model combining clinical, genetic and radiomic data showed the highest C-index (0.81, SD 0.04). CONCLUSION Gliomas harboring F3T3 gene fusions show specific molecular features, distinct radiological and radiomic features and a less aggressive clinical evolution.

Tumor maligno de la vaina del nervio periférico primario de mama

Malignant peripheral nerve sheath tumours represent 5-10% of all malignant soft tissue tumours and are frequently associated with neurofibromatosis typeI. Their presentation in the mammary gland is rare. Because of this rarity, as well as the absence of specific clinical and/or radiological features, their diagnosis very difficult. It is therefore essential to correctly interpret immunohistochemical analysis and its correlation with morphological findings. We present a clinical case and literature review.

British OsteoNEcrosis Study (BONES) protocol: a prospective cohort study to examine the natural history of osteonecrosis in older children, teenagers and young adults with acute lymphoblastic leukaemia and lymphoblastic lymphoma

IntroductionOsteonecrosis is a well-recognised treatment-related morbidity risk in patients diagnosed with acute lymphoblastic leukaemia (ALL) and lymphoblastic lymphoma (LBL), with a high rate of affected patients requiring surgical intervention. Patients...

Decision criteria influencing the therapeutic approach to invasive cervical resorption: a case series.

Invasive cervical resorption (ICR) is a dental lesion starting in the cervical region and involving the loss of dental hard tissue as a result of odontoclastic action. Due to its localization and invasive pattern, this process represents a challenging clinical situation. When feasible, the major aim of an ICR treatment is to completely remove the pathologic tissue (specifically at the entry point of the lesion) and to seal the resulting defect, without compromising tooth rehabilitation. In this context, choosing how to access the resorptive lacuna is essential. Two main options have been described in the literature: an external approach, requiring the surgical exposure of the resorptive lacuna, and an internal approach, taking advantage of the endodontic access cavity. However, there are no guidelines that indicate which approach to choose for the treatment of an ICR. This article is based on four clinical cases. It aims to provide specific clinical and radiologic features that should be considered in order to take the most appropriate decision, when choosing between the internal and the external approaches. It is proposed to base the therapeutic strategy on the accessibility and the size of the portal of entry of the lesion. When the entry point is wide, its extension along the root must also be taken into account. Other important parameters are the circumferential and vertical extents of the lesion in the radicular dentin. Although it is not a determining factor, the pulpal involvement of the lesion can also be considered.

Implications of the diagnostic criteria of idiopathic pulmonary fibrosis in clinical practice: Analysis from the Australian Idiopathic Pulmonary Fibrosis Registry.

Current guidelines for the diagnosis of idiopathic pulmonary fibrosis (IPF) provide specific criteria for diagnosis in the setting of multidisciplinary discussion (MDD). We evaluate the utility and reproducibility of these diagnostic guidelines, using clinical data from the Australian IPF Registry. All patients enrolled in the registry undergo a diagnostic review whereby international IPF guidelines are applied via a registry MDD. We investigated the clinical applicability of these guidelines with regard to: (i) adherence to guidelines, (ii) Natural history of IPF diagnostic categories and (iii) Concordance for diagnostic features. A total of 417 participants (69% male, 70.6 ± 8.0 years) with a clinical diagnosis of IPF underwent MDD. The 23% of participants who did not meet IPF diagnostic criteria displayed identical disease behaviour to those with confirmed IPF. Honeycombing on radiology was associated with a worse prognosis and this translated into poorer prognosis in the 'definite' IPF group. While there was moderate agreement for IPF diagnostic categories, agreement for specific radiological features, other than honeycombing, was poor. In clinical practice, physicians do not always follow IPF diagnostic guidelines. We demonstrate a cohort of IPF patients who do not meet IPF diagnostic guideline criteria, based largely on their radiology and lack of lung biopsy, but who have outcomes identical to those with IPF.

\u201cVelcro-type\u201d crackles predict specific radiologic features of fibrotic interstitial lung disease

Background“Velcro-type” crackles on chest auscultation are considered a typical acoustic finding of Fibrotic Interstitial Lung Disease (FILD), however whether they may have a role in the early detection of these disorders has been unknown. This study investigated how “Velcro-type” crackles correlate with the presence of distinct patterns of FILD and individual radiologic features of pulmonary fibrosis on High Resolution Computed Tomography (HRCT).MethodsLung sounds were digitally recorded from subjects immediately prior to undergoing clinically indicated chest HRCT. Audio files were independently assessed by two chest physicians and both full volume and single HRCT sections corresponding to the recording sites were extracted. The relationships between audible “Velcro-type” crackles and radiologic HRCT patterns and individual features of pulmonary fibrosis were investigated using multivariate regression models.Results148 subjects were enrolled: bilateral “Velcro-type” crackles predicted the presence of FILD at HRCT (OR 13.46, 95% CI 5.85–30.96, p < 0.001) and most strongly the Usual Interstitial Pneumonia (UIP) pattern (OR 19.8, 95% CI 5.28–74.25, p < 0.001). Extent of isolated reticulation (OR 2.04, 95% CI 1.62–2.57, p < 0.001), honeycombing (OR 1.88, 95% CI 1.24–2.83, < 0.01), ground glass opacities (OR 1.74, 95% CI 1.29–2.32, p < 0.001) and traction bronchiectasis (OR 1.55, 95% CI 1.03–2.32, p < 0.05) were all independently associated with the presence of “Velcro-type” crackles.Conclusions“Velcro-type” crackles predict the presence of FILD and directly correlate with the extent of distinct radiologic features of pulmonary fibrosis. Such evidence provides grounds for further investigation of lung sounds as an early identification tool in FILD.

Osteosarcoma of the jaw: Challenges in the diagnosis and treatment

PurposeOsteosarcomas rarely affect jaw bones. Patients are usually older than those who suffer long bone sarcomas, with a rare incidence of metastasis. This is suggestive of a different pattern of behavior compared with long bone sarcomas. This study aimed to present NCI, Cairo University experience in treating patients diagnosed with osteosarcomas of the jaw, including the diagnostic challenges and treatment outcome. Patients and methodsThis is a retrospective case series study of all cases of osteosarcomas of mandible and maxilla that were treated at the NCI, in the period between 2006 and 2013. Patients' data, including demographic data, various clinical presentations, results of investigations, treatment modalities performed and outcomes, were collected from hospital records kept in the Biostatistics Department at NCI. ResultsRecords showed 21 cases of osteosarcoma of the jaw. The mandible was affected in 15 cases, the maxilla in six. Two cases had sun-ray periosteal reactions. Erroneous biopsy results were found in 4 cases compared with final pathology reports of surgical resections. All cases underwent surgical resections, with 8 cases having positive margins. The median follow-up period was 19.3 months (range 0.3–98.0 months). The cumulative disease-free survival (DFS) was 27.5% and the median DFS was 72 months. The cumulative overall survival at end of the study was 77.4%. ConclusionsOsteosarcoma of the jaw is challenging both to diagnose and manage. This is due to the high incidence of mistakes in biopsy results, rare specific radiological features and difficulties in proper resection due to proximity to vital structures.

Clinical and Radiologic Characteristics of Deep Lumbosacral Dural Arteriovenous Fistulas.

Spinal dural arteriovenous fistulas located in the deep lumbosacral region are rare and the most difficult to diagnose among spinal dural arteriovenous fistulas located elsewhere in the spinal dura. Specific clinical and radiologic features of these fistulas are still inadequately reported and are the subject of this study. We retrospectively evaluated all data of patients with spinal dural arteriovenous fistulas treated and/or diagnosed in our institution between 1990 and 2017. Twenty patients with deep lumbosacral spinal dural arteriovenous fistulas were included in this study. The most common neurologic findings at the time of admission were paraparesis (85%), sphincter dysfunction (70%), and sensory disturbances (20%). Medullary T2 hyperintensity and contrast enhancement were present in most cases. The filum vein and/or lumbar veins were dilated in 19/20 (95%) patients. Time-resolved contrast-enhanced dynamic MRA indicated a spinal dural arteriovenous fistula at or below the L5 vertebral level in 7/8 (88%) patients who received time-resolved contrast-enhanced dynamic MRA before DSA. A bilateral arterial supply of the fistula was detected via DSA in 5 (25%) patients. Clinical symptoms caused by deep lumbosacral spinal dural arteriovenous fistulas are comparable with those of spinal dural arteriovenous fistulas at other locations. Medullary congestion in association with an enlargement of the filum vein or other lumbar radicular veins is a characteristic finding in these patients. Spinal time-resolved contrast-enhanced dynamic MRA facilitates the detection of the drainage vein and helps to localize deep lumbosacral-located fistulas with a high sensitivity before DSA. Definite detection of these fistulas remains challenging and requires sufficient visualization of the fistula-supplying arteries and draining veins by conventional spinal angiography.

Genetic mutation and clinical features of osteogenesis imperfecta type V

To explore genetic mutations and clinical features of osteogenesis imperfecta type V. Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation. A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.

Unusual primary breast cancer \u2013 malignant peripheral nerve sheath tumor: a case report and review of the literature

BackgroundSarcomas are a rare type of breast malignancies and malignant peripheral nerve sheath tumors of the breast are even rarer. There are no specific clinical and radiological features for the diagnosis of this tumor and histological features are also reported to be nonspecific. Therefore, immunohistochemistry is required for its diagnosis. A definitive treatment protocol is unavailable because of its rarity.Case presentationWe report a case of a sporadic form of breast malignant peripheral nerve sheath tumor found in a 16-year-old Asian Bangladeshi girl. She experienced local recurrence and she had multiple left breast lumps four times in a very short period after repeated surgeries. However, she was later managed successfully with chemotherapy and locoregional radiotherapy. A chemotherapy protocol with ifosfamide, vincristine, and actinomycin was used and radiotherapy was given with a total dose of 50 Gy given in 25 fractions of 2 Gy by a 6 MV photon linear accelerator followed by 10 Gy boost given in 5 fractions of 2 Gy by 9 MeV electron energy. With more than 3 years of periodic follow-up, she is still well without any locoregional and metastatic recurrence.ConclusionsThis report suggests proper immunohistochemical analysis whenever a breast sarcoma is found in order to find a rare histological variety. We believe that malignant peripheral nerve sheath tumor of the breast can be managed by total mastectomy followed by adjuvant chemotherapy and radiotherapy. Long-term meticulous follow-up is required to develop an optimum therapeutic strategy.

Late-onset Rasmussen Encephalitis: A literature appraisal.

Rasmussen Encephalitis (RE) is classically described as a childhood encephalopathy due to a unilateral inflammation of the cerebral cortex with a presumed immune-mediated pathophysiological basis. Unusual variant forms, including adolescent and adult-onset RE have been described but there is still a doubt whether these atypical cases correspond to classical RE patients. To review evidence, a systematic PubMed search was conducted to retrieve papers addressing late onset RE to assess (i) the positivity rate of classical childhood-onset diagnostic criteria for RE in late-onset RE, (ii) the specific clinical and radiological features that could help earlier diagnosis and therapeutic interventions, (iii) the arguments for an autoimmune pathophysiology including (iiia) the association with autoimmune markers or diseases and (iiib) the effects of immunomodulatory or immunosuppressive treatments. A total of 50 papers were considered. We identified 102 late-onset RE patients with a sex ratio of 8 women for 2 men. 67% fulfilled the consensus diagnostic criteria for RE. As compared to classical RE, the late-onset RE patients exhibited: i) more frequent focal complex partial seizures, ii) less frequent epilepsia partialis continua throughout evolution, iii) a slower evolution with a delayed occurrence of cortical deficit, iv) less cognitive deterioration and v) a better outcome. A specific association with autoimmune markers or diseases was not found. Immunomodulatory therapies, even performed in a late stage, improved late-onset RE patients in 61% of cases. This review proves that late-onset RE is a reality with specific clinical and radiological features. The good response to immunomodulatory treatments brings further arguments for an immune-regulated process.

031. COMPELLING CASE OF COPPER CONUNDRUM: OCCIPITAL HORN SYNDROME

Background: Occipital horn syndrome (OHS) is a very rare, X-linked genetic disorder. There are 20 cases reported. It is a disorder of copper metabolism caused by missense mutations in the ATP7A gene, leading to toxic cellular accumulation of copper. This is the less severe phenotype of the condition known as the childhood variant of Menkes disease. We present a case report of a male with this syndrome who evaded clinical diagnosis for many years, with interesting radiological findings of rib notching which has not been associated with this condition. Methods: A 25 year old male presented with a diaphyseal skeletal dysplasia with abnormal carpal bones, radial shortening, humeral abnormalities, abnormal femoral head development and exostoses. Of note were inferior and superior rib notching. As a child, he was noted to have hypotonia, skin laxity, hyper-extensible joints and delayed developmental milestones. During his teenage years, he suffered from short stature and delayed puberty. He had experienced considerable myalgia and polyarthralgia with associated weakness compounded by pain and fatigue. He required multiple surgical interventions for para-umbilical, femoral and inguinal hernias since infancy. He was treated for multiple bladder infections secondary to diverticula; leading to numerous surgeries, including a left sided nephrectomy for non-functioning kidney. He was diagnosed with mitral valve prolapse as a child. Recently, he has suffered from short lived irregular palpitations with dyspnoea, triggered by posture changes. He had prolonged QTc interval on electrocardiogram but cardiac MRI was unremarkable. On examination, he demonstrated a long neck and forehead with narrow face, elevated arched palate and micrognathia. There was evidence of lax skin, reduced subcutaneous fat and markedly hypermobile joints. There was marked exostosis at the elbows with fused radial heads. He had narrow shoulders with expanded clavicular-sternal joints, as well as pectus excavatum. Results: On specialist review of the patient’s skeletal imaging, large exostoses (calcifications) were found in his trapezius and sternocleidomastoid muscles. These are the characteristic occipital horns, which married together with the spectrum of the connective tissue phenotype led to confirmatory blood and genetic testing showing low plasma copper and caeruloplasmin as well as the pathogenic mutation. Subcutaneous copper histidine replacement injections have been tried in Menkes disease and it is thought to slow disease progression. The use of copper in OHS is less certain. Conclusion: Occipital horn syndrome is worth considering as a diagnosis in cases with specific connective tissue phenotypes and odd radiological features. Inferior and superior rib notching has a short differential list and OHS should be added to this. This case illustrates the need for multiprofessional specialist services including the clinical genetics department. Diagnosis is important to establish in terms of monitoring organ complications and to plan antenatal screening and treatments that may improve long-term outcome.

Myxoma of the kidney \u2013 an unusual benign renal tumor: a case report

BackgroundMyxomas are rare benign soft tissue tumors. The kidney is an unusual location for this tumor. For this reason, less than 15 cases of renal myxoma have been reported in the English literature. There are no specific clinical and radiological features reported for this tumor that allow a preoperative diagnosis enabling a conservative treatment.Case presentationWe report another case of renal myxoma found in a 50-year-old Moroccan woman who presented with a right dull flank pain. An abdominal computed tomography scan objectified a suspected malignant renal mass. Thus, radical nephrectomy was performed. Histopathology of the specimen revealed the typical appearance of a myxoma.ConclusionsThe objective of this report is to add another case report of this rare benign renal tumor to the literature. This benign tumor with excellent prognosis has no specific preoperative features that could justify a conservative management; a radical approach remains the therapeutic option for now.

Bilateral congenital lobar emphysema: staged management

BackgroundOnly a few isolated cases in the literature exist to guide management of bilateral congenital lobar emphysema (CLE). Here, we review our experience in infants with bilateral CLE. MethodsA case series of all infants presenting with bilateral CLE from 2014 to 2015 in a single institution. ResultsFour patients underwent intervention, with all having right middle lobe (RML) and left upper lobe (LUL) affected. Preoperative planning with computed tomography angiography (CTA) chest allowed a tailored approach based on specific radiologic features. All patients also underwent bronchoscopy to evaluate the anatomy and to assess for alternative causes of airway compression. Three patients underwent unilateral lobectomies, two RML and one LUL. All are growing normally and on room air more than one year later. The last patient underwent a staged procedure beginning with left upper lobectomy followed by right middle lobectomy two weeks later after exhibiting rebound hyperexpansion of the remaining diseased lobe. Thoracoscopy was precluded by mass effect in all patients. No patients underwent emergent lobectomies. One patient had pulmonary interstitial glycogenosis (PIG) in the setting of CLE, first reported case of bilateral CLE with PIG. ConclusionsThis study supports a staged, image-guided, physiology-based operative approach to bilateral CLE. Excision of both diseased lobes does not appear to be mandatory, at least in the short-term follow up, and comports with a “the least intervention that is the most effective” philosophy. CTA is critical for planning, but the role of V/Q scan is not defined. Thoracoscopy appears to have no role. Level of evidenceTreatment Study, Level IV.

Solid (Type 3) pleuropulmonary blastoma

Introduction: Pleuropulmonary blastoma is a rare solid and/or cystic progressive and aggressive malignant intra-thoracic tumor of childhood which belongs to a group of dysontogenetic neoplasms such as Wilms tumor, neuroblastoma and hepatoblastoma. The incidence of pleuropulmonary blastoma ranges between 0.25 and 0.5% of primary lung tumors making this entity a rare primary malignant lung tumor. Case Report: A two-month-old male neonate was referred from a regional hospital with a three-day history of cough, fever and shortness of breath. No previous medical history reported. The patient was delivered at term through a normal vaginal delivery which was uneventful. Birth weight 3 kg, length 48 cm, Apgar score 10/10 and the head circumference was 35 cm. The patient's retro-viral disease status was negative. On percussion there was dullness and bilateral crepitations. There was bilateral decreased air-entry. No signs of cardiac failure. The rest of the systems were within normal limits. The arterial blood gases showed respiratory acidosis with hypoxia. Chest X-ray showed a white out of the right hemithorax and CT scan of the chest showed a large soft tissue mass in the right hemithorax associated with free fluid in the right hemithorax and the biopsy was performed which confirmed the diagnosis of a pleuropulmonary blastoma. The pleuropulmonary blastoma was a solid type (Type 3). Conclusion: Pleuropulmonary blastoma poses a diagnostic challenge because it does not have specific clinical or radiological features. The late diagnosis and delayed treatment of pleuropulmonary blastoma are associated with a deadly prognosis.

Evaluation of urinary desmosines as a noninvasive diagnostic biomarker in patients with idiopathic pleuroparenchymal fibroelastosis (PPFE)

BackgroundPleuroparenchymal fibroelastosis (PPFE) is a rare interstitial pneumonia with upper lobe predominance and fibroelastosis. Although definite diagnosis requires surgical lung biopsy (SLB), SLB is often difficult because of its complications such as refractory pneumothorax. ObjectiveTo evaluate urinary desmosines (degradation product of mature elastin) as a novel biomarker in patients with PPFE. MethodsBiopsy-proven patients with PPFE (n = 14) were prospectively enrolled. Levels of urinary desmosines in patients with PPFE were measured with liquid chromatography-tandem mass spectrometry (LC-MS/MS) and compared with those in patients with idiopathic pulmonary fibrosis (IPF), patients with chronic obstructive pulmonary disease (COPD), and controls. ResultsLevels of urinary desmosines were significantly higher in patients with PPFE than those in patients with IPF (48.4 vs. 28.6 ng/mg creatinine, p = 0.034), patients with COPD (8.0 ng/mg creatinine, p < 0.001), or controls (17.4 ng/mg creatinine, p < 0.001). Desmosines discriminated between PPFE and IPF (area under the curve [AUC] = 0.708), and between PPFE and controls (AUC = 0.956). However, levels of desmosines were not correlated with physiological parameters in patients with PPFE. ConclusionsUrinary desmosines may be a useful diagnostic biomarker in patients with PPFE. Measurement of desmosines combined with specific clinical and radiological features of PPFE may lead to an accurate diagnosis without SLB in patients with PPFE.