scholarly journals Williams-Beuren syndrome presenting as pulmonary edema with pleural effusion: a new pulmonary manifestation of elastin vasculopathy

2020 ◽  
Vol 15 (9) ◽  
pp. 48-53
Author(s):  
Fadi Khazzam ◽  
Ashraf Gad ◽  
Muhammad Dilawar
Keyword(s):  
Pleural Effusion ◽  
Pulmonary Edema ◽  
Gene Deletion ◽  
Genetic Disorders ◽  
Pulmonary Stenosis ◽  
Facial Features ◽  
Limited Data ◽  
Case Presentation ◽  
2D Echocardiogram ◽  
Cardiovascular Anomalies

Introduction: Williams-Beuren syndrome (WBS) is a gene deletion disorder characterized by distinct facial features, cardiovascular anomalies, and intellectual disability. Many genes are involved in WBS, of which the elastin (ELN) gene deletion is almost present in all cases. Limited data exist about pulmonary diseases in children with WBS. Furthermore, pleural effusion (PE) has not been reported in these patients. Case Presentation: A term, small-for-gestational-age (SGA) male Caucasian newborn presented with respiratory distress shortly after vaginal birth. A chest radiograph showed significant pulmonary edema with bilateral pleural effusion. A 2D Echocardiogram demonstrated supravalvular aortic stenosis and branch pulmonary stenosis suspecting WBS. A genetic evaluation revealed an interstitial 1.5Mb deletion in the long arm of chromosome 7 involving band q11.23 confirming the diagnosis of WBS. The child underwent surgical repair at 4 months for age due to cardiac disease progression. Conclusions: An unexplained finding of pulmonary edema and PE in a newborn can be associated with genetic disorders and warrants investigation for WBS, especially in SGA newborns.

scholarly journals Re-expansion Pulmonary Edema after Drainage of Pleural Effusion in a Pediatric Patient with a Large Anterior Mediastinal Mass

2016 ◽  
Vol 1 (1) ◽  
Keyword(s):  
Pleural Effusion ◽  
Natural History ◽  
Respiratory Distress ◽  
Pulmonary Edema ◽  
Clinical Case ◽  
Mediastinal Mass ◽  
Operative Management ◽  
Anterior Mediastinal Mass ◽  
Newly Diagnosed ◽  
Case Presentation

Clinical case presentation of a 13 year old male with a newly diagnosed anterior mediastinal mass who developed rapid respiratory distress after drainage of a pleural effusion. We include a discussion of the incidence, natural history, and peri-operative management of children with re-expansion pulmonary edema.

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

scholarly journals Pulmonary sequestration with Aspergillus infection presenting as massive hemoptysis and hemothorax with highly elevated carcinoembryonic antigen in pleural effusion that mimics advanced lung malignancy

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Wei Luo ◽  
Tong-chen Hu ◽  
Lincheng Luo ◽  
Ya-lun Li
Keyword(s):  
Pleural Effusion ◽  
Carcinoembryonic Antigen ◽  
Diagnostic Procedure ◽  
Pulmonary Sequestration ◽  
Massive Hemoptysis ◽  
Chest Imaging ◽  
Case Presentation ◽  
Aspergillus Infection ◽  
Lung Malignancy ◽  
Lung Malignancies

Abstract Background Pulmonary sequestration (PS) associated with massive hemoptysis, hemothorax, and elevated tumor markers or even lung malignancy has been reported in several studies. These clinical features combined with lung lesions on chest imaging are sometimes hard to differentiate from lung malignancies and often complicate the diagnostic procedure. Case presentation A 45-year-old man with PS presented with massive hemoptysis, hemothorax, and extremely elevated carcinoembryonic antigen (CEA) in pleural effusion was initially misdiagnosed with advanced lung carcinoma, but was ultimately diagnosed with PS with Aspergillus infection. Conclusions PS is rarely concurrent with lung cancer; most of the time, it is misdiagnosed as a malignancy, especially when presenting with a fungal infection, which could remarkably elevate CEA in pleural effusion.

Treating rare tumors with the assistance of the expert virtual consultation system: two cases of juvenile granulosa cell tumors

2021 ◽  
pp. 030089162110523
Author(s):  
Shushan Hovsepyan ◽  
Lusine Hakobyan ◽  
Armen Mkhitaryan ◽  
Monica Terenziani ◽  
Andrea Ferrari ◽  
...  
Keyword(s):  
Granulosa Cell ◽  
Limited Data ◽  
Blood Disorders ◽  
Cooperative Study Group ◽  
Case Presentation ◽  
Granulosa Cell Tumors ◽  
Rare Tumors ◽  
Consultation System ◽  
Limited Experience ◽  
Advanced Stages

Background: The lack of internationally recognized guidelines for very rare tumors, such as juvenile granulosa cell tumors (JGCTs), which are nonepithelial, unusual ovarian tumors, is a challenge for pediatric oncologists, especially in developing countries with limited resources and experience in treating rare tumors. Methods: We report clinical data of 2 girls with JGCTs treated at the Pediatric Cancer and Blood Disorders Center of Armenia with the assistance of the EXPeRT (European Cooperative Study Group for Pediatric Rare Tumors) international cooperation panel. Case presentation: Two girls (16 and 15 years old) with JGCTs of the ovaries, stage Ic, underwent surgery and, with consultation through an online advisory board ( http://vrt.cineca.it/ ), received 4 cycles of chemotherapy according to the PEI regimen (cisplatin, etoposide, ifosfamide). Conclusion: Very rare tumors, especially in advanced stages, have limited data and a low survival rate. International collaboration with the EXPeRT group is beneficial for physicians with limited experience and facilitates research in pediatric oncology.

scholarly journals Correlation between chest x-ray findings and outcomes of patients with mechanical ventilation

2013 ◽  
Vol 53 (1) ◽  
pp. 6
Author(s):  
Indah Nurhayati ◽  
Muhammad Supriatna ◽  
Kamilah Budhi Raharjani ◽  
Eddy Sudijanto
Keyword(s):  
Mechanical Ventilation ◽  
Retrospective Study ◽  
Pleural Effusion ◽  
Respiratory Distress ◽  
Pulmonary Edema ◽  
Patient Outcomes ◽  
Morbidity And Mortality ◽  
Chi Square ◽  
X Ray ◽  
Chest X Ray

Background Most infants and children admitted to the pediatricintensive care unit (PICU) have respiratory distress and pulmonarydisease as underlying conditions. Mechanical ventilation may beused to limit morbidity and mortality in children with respiratoryfailure.Objective To assess a correlation between chest x-ray findingsand outcomes of patients with mechanical ventilation.Methods This retrospective study was held in Dr. KariadiHospital, Semarang, Indonesia. Data was collected from themedical records of children admitted to the PICU from Januaryto December 2010, who suffered from respiratory distress andused mechanical ventilation. We compared chest x-ray findings tothe outcomes of patients. Radiological expertise was provided byradiologists on duty at the time. Chi-square and logistic regressiontests were used for statistical analysis.Results There were 63 subjects in our study, consisting of 28 malesand 35 females. Patient outcomes were defined as survived or died,43 subjects ( 68%) and 20 subjects (3 2%), respectively. Chest x-rayfindings revealed the following conditions: bronchopneumonia48% (P=0.298; 95%CI 0.22 to 1.88), pleural effusion 43%(P=0.280; 95%CI 0.539 to 4.837) , pulmonary edema 6%(P=0.622; 95%CI 0.14 to 14.62) and atelectasis 3% (P=0.538;95%CI 0.03 to 7 .62). None of the chest x-ray findings significantlycorrelated to patient outcomes.Conclusion Chest x-ray findings do not correlate to patientoutcomes in pediatric subjects with mechanical ventilation inthe PICU of Dr. Kariadi Hospital, Semarang, Indonesia.

scholarly journals Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Arianna De Matteis ◽  
Emanuela Sacco ◽  
Camilla Celani ◽  
Andrea Uva ◽  
Virginia Messia ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Lupus Erythematosus ◽  
High Dose ◽  
Common Symptom ◽  
Systemic Lupus ◽  
Malar Rash ◽  
Case Presentation ◽  
Double Stranded Dna ◽  
First Case ◽  
History Of

Abstract Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. Conclusion To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.

scholarly journals The Role of Cytokine profile detection in Myelomatous pleural effusions

2021 ◽  
Author(s):  
Junhui Xu ◽  
Liang Gao ◽  
Miao Yan ◽  
Bingjie Wang ◽  
Zhengyang Song ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Pleural Effusion ◽  
Cytokine Profile ◽  
Pleural Effusions ◽  
Case Presentation ◽  
Cytokine Detection ◽  
Tnf Α ◽  
Tumor Load ◽  
Poor Outcomes

Abstract Background: Myelomatous pleural effusion (MPE), as a presentation of extramedullary infiltration of multiple myeloma (MM), is rare and associated with poor outcomes without comparatively effective treatment now. The value of the cytokine detection in pleural effusions to MPE has not been reported at present. Case presentation: We herein report a case of refractory and relapsed multiple myeloma which developed bilateral MPE due to disease progression caused by intolerance to various chemotherapy regimens. The cytomorphology and flow cytometry is adopted in the diagnosis confirmation. The chemotherapy containing immunomodulators combined with thoracic catheterization drainage is applied to the patient, showing a certain therapeutic effect. During the course of disease, the changes of cytokine profile in pleural effusion were monitored by Biolegend CBA technology, revealing that the cytokines such as IL-6 and IL-10 related to the tumor load in pleural effusion decreased with the improvement of the disease, while IL-2, IL-4, IL-17A, TNF - α, INF - γ, granzyme A, Granzyme B, perforin and granulysin increased with the improvement of the disease. Conclusions: There is a prospect that the cytokines level in pleural effusion becomes an indication to evaluate treatment response of MPE, and in the light of our finding, immunomodulators, IL-2 and INF - γ may be utilized in treating patients suffering MPE.

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