Rarer Components of a Rare Disease: Accessory Hemidiaphragm and Horseshoe Lung with Scimitar Syndrome; Two Case Reports.

INTRODUCTION: Scimitar syndrome is a rare developmental anomaly with an incidence of 2/100.000 births. Major components of this disease are partial anomalous pulmonary venous drainage, pulmonary hypoplasia, systemic arterialization of the right basal lung, and dextroposition of the heart. Horseshoe lung and accessory hemidiaphragm are two rarer components of this disease. CASE PRESENTATION: In this paper, horseshoe lung and accessory diaphragm associated with Scimitar syndrome have been reported in two cases. CONCLUSION: In conclusion, being aware of rare manifestations of rare diseases is important to fully describe the pathologic spectrum of the disease. This will assist in better management and decision-making process.

Comparison Between Nomograms Used to Define Pediatric Aortic Arch Hypoplasia: Retrospective Evaluation Among Patients Less Than 1 Year Old with Coarctation of the Aorta.

Although various modalities are currently in use to define pediatric aortic arch hypoplasia (AAH), there is little uniformity among them. We aimed to determine the inter-rater strength of agreement of the nomograms in a survey of patients less than 1 year old, who had undergone coarctation of the aorta (CoA) repair with or without AAH. This retrospectively designed study comprised of 105 patients with CoA, who had been evaluated between 2008 and 2018 by means of a computed tomography angiogram. Through re-estimation of the aortic arch segmental diameters, the z scores were calculated using three nomograms (Cantinotti, Pettersen, Lopez). Along with a t test and Pearson's correlation coefficient, a linear regression analysis, Bland-Altman plots, and Cohen's kappa k value were used to evaluate inter-rater strength of agreement. The mean age and weight of the cohort was 73.3 ± 81.2 days and 4.2 ± 1.6 kg, respectively. Sixty-four (61%) patients were neonates. The z scores of the nomograms for each aortic arch segment were significantly different. Although there was a significantly positive correlation between the nomograms with their related aortic arch diameter, the differences in z scores revealed considerable deviations in the scatter plot diagrams. The mean difference of z scores was significantly different from the testing value of zero, which was also presented in Bland-Altman plots. None of the comparisons reached a kappa k value of > 0.9. The current nomograms do not reveal an acceptable level of agreement for the definition of the AAH. The question is which modality to rely on when deciding on the surgical approach and technique of CoA repair to address the hypoplastic aortic arch segment. Decisions about the surgical approach and the technique of repair warrant a reliable definition of AAH. It is high time that a consensus is reached in this regard.

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.

INTRODUCTION: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems. CASE PRESENTATION: Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results. CONCLUSION: LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.

Radiological nodule behavior: A critical parameter in the surgical management of pediatric pulmonary metastases.

Divarci E, Arslan S, Dökümcü Z, Kantar M, Demirag B, Öniz H, Ertan Y, Alper H, Erdener A, Özcan C. Radiological nodule behavior: A critical parameter in the surgical management of pediatric pulmonary metastases. Turk J Pediatr 2018; 60: 372-379. Radiological nodule behavior (RNB) means the course of nodule appearance on consecutive CT scans. In this study, we aimed to discuss the effects of RNB on prognosis of patients with pulmonary metastasis. Retrospective analysis of patients who underwent pulmonary metastasectomy (PM) between 2005-2015 was performed. RNBs were grouped as stable, enlarging or new rising nodules. The effects of RNBs were analyzed on recurrence, 1- and 3-year event free survival (EFS) and mortality. Twenty-seven patients (18 male) underwent PM with a median age of 15 years (3-18 years). The diagnoses were listed as osteosarcoma (13), Wilms` tumor (7), Ewing`s sarcoma (3), synovial sarcoma (2), rabdomyosarcoma (1) and mixed germ cell tumor of testis (1). RNBs were new rising in 15 patients (55%), enlarging in seven patients (26%) and stable in five patients (19%). Vital tumor metastasis was detected in all of the patients with enlarging nodules (100%); in 10 of the 15 patients with new rising nodules (66%) and none of the patients with stable nodules. None of the patients with stable nodules developed recurrence or died after PM (p˂0.05). In patients with enlarging nodules, metastases recurred and they died in the postoperative period. These findings were similar in different types of tumors. RNB could be used as a critical parameter in deciding surgical management strategies of pulmonary metastases. Stabile nodules should be observed by close follow-up with serial CT scans without surgery. All of the suspected new rising nodules should undergo surgical sampling to avoid unnecessary chemotherapy. Nodule progression under chemotherapy is a poor prognostic criteria for overall survival.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

OBJECTIVES: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. METHODS: Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. RESULTS: We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. CONCLUSION: A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.

Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.

Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.

Complicaciones pulmonares de la neumonía química: A propósito de un caso / Pulmonary complications of chemical pneumonía; a case report

La aspiración de hidrocarburos puede causar un daño significativo a los pulmones al inducir una respuesta inflamatoria, alveolitis exudativa hemorrágica y pérdida de la función del tensioactivo pulmonar. El efecto secundario más grave de la aspiración de hidrocarburos es la neumonía por aspiración. Anteriormente se han notificado casos de neumotórax, neumatocele, síndrome de dificultad respiratoria aguda (SDRA), absceso pulmonar, fístula broncopleural, derrame pleural bilateral hemorrágico y pioneumotórax. En este artículo presentamos el caso de un paciente hospitalizado debido a neumonía por aspiración que desarrolló pleuritis y neumotórax después de ingerir disolvente para pintura. Se presenta este caso ya que raramente se ha informado en niños como causa de complicaciones pulmonares diferentes. Es necesario evaluar integralmente a los pacientes con complicaciones asociadas a la intoxicación por hidrocarburos. Debe evitarse el alta hospitalaria temprana de los pacientes, quienes deben ser controlados durante, al menos, 48 horas, aunque no tengan síntomas respiratorios. Debe considerarse que los pacientes con neumonía química pueden tener complicaciones pulmonares graves.

Hydrocarbon aspiration (HA) can cause significant lung disease by inducing an inflammatory response, hemorrhagic exudative alveolitis, and loss of surfactant function. The most serious side effect of HA is aspiration pneumonia. Pneumothorax, pneumatocele, acute respiratory distress syndrome (ARDS), pulmonary abscess, bronchopleural fistula, bilateral hemorrhagic pleural effusion and pyopneumothorax were previously reported. Hereby we report a patient hospitalized due to aspiration pneumonia who developed pleurisy and pneumothorax after drinking paint thinner. It is presented as it was seldom reported in children to cause distinct pulmonary complications. Patients with complaints associated withhydrocarbon poisoning must be fully evaluated. They must not be discharged from the hospital early and must be followed for at least 48 hours even if they don't have respiratory symptoms. It should be kept in mind that severe pulmonary complications can develop in patients with chemical pneumonia.

Pulmonary complications of chemical pneumonía: a case report. / Complicaciones pulmonares de la neumonía química: a propósito de un caso.

Hydrocarbon aspiration (HA) can cause significant lung disease by inducing an inflammatory response, hemorrhagic exudative alveolitis, and loss of surfactant function. The most serious side effect of HA is aspiration pneumonia. Pneumothorax, pneumatocele, acute respiratory distress syndrome (ARDS), pulmonary abscess, bronchopleural fistula, bilateral hemorrhagic pleural effusion and pyopneumothorax were previously reported. Hereby we report a patient hospitalized due to aspiration pneumonia who developed pleurisy and pneumothorax after drinking paint thinner. It is presented as it was seldom reported in children to cause distinct pulmonary complications. Patients with complaints associated withhydrocarbon poisoning must be fully evaluated. They must not be discharged from the hospital early and must be followed for at least 48 hours even if they don't have respiratory symptoms. It should be kept in mind that severe pulmonary complications can develop in patients with chemical pneumonia.

La aspiración de hidrocarburos puede causar un daño significativo a los pulmones al inducir una respuesta inflamatoria, alveolitis exudativa hemorrágica y pérdida de la función del tensioactivo pulmonar. El efecto secundario más grave de la aspiración de hidrocarburos es la neumonía por aspiración. Anteriormente se han notificado casos de neumotórax, neumatocele, síndrome de dificultad respiratoria aguda (SDRA), absceso pulmonar, fístula broncopleural, derrame pleural bilateral hemorrágico y pioneumotórax. En este artículo presentamos el caso de un paciente hospitalizado debido a neumonía por aspiración que desarrolló pleuritis y neumotórax después de ingerir disolvente para pintura. Se presenta este caso ya que raramente se ha informado en niños como causa de complicaciones pulmonares diferentes. Es necesario evaluar integralmente a los pacientes con complicaciones asociadas a la intoxicación por hidrocarburos. Debe evitarse el alta hospitalaria temprana de los pacientes, quienes deben ser controlados durante, al menos, 48 horas, aunque no tengan síntomas respiratorios. Debe considerarse que los pacientes con neumonía química pueden tener complicaciones pulmonares graves.

Imaging findings of pulmonary granulomatosis with polyangiitis (Wegener's granulomatosis): lesions invading the pulmonary fissure, pleura or diaphragm mimicking malignancy.

BACKGROUND: Granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis), in which pulmonary involvement often predominates, is a multisystem granulomatous, necrotizing vasculitis that affects small and medium-sized vessels. In this study we evaluated various radiological findings of pulmonary GPA and focused on spiculated pulmonary lesions invading the pulmonary fissure, pleura or diaphragm mimicking malignancy. METHODS: This retrospective study included 48 patients, aged 28-73 (mean, 47.3) years, who showed either histopathological diagnosis of GPA (n = 39) or elevated levels of the cytoplasmic anti-neutrophilic cytoplasmic antibody serum marker (n = 9) between January 2003 and December 2013. All patients received a chest computed tomography (CT), and the types of pulmonary lesions were defined and evaluated. RESULTS: Among the 48 patients, 33 had abnormal pulmonary findings on CT. The most commonly detected pulmonary lesion types were nodules and masses (n = 126) observed in 24 patients. Cavitation, necrosis, spiculation and invasion of the fissure, pleura or diaphragm were observed in 14, 9, 10 and 6 patients, respectively. Consolidation was found in 14 patients and thickening of bronchial wall in 8 patients. CONCLUSIONS: Pulmonary lesion types of GPA have a wide spectrum, potentially mimicking a high number of diseases including malignancy, infection and noninfectious inflammatory diseases. A spiculated lung lesion invading the fissure, pleura or diaphragm is mostly present in malignancy, but it can be also seen in GPA.

Pulmonary vascular anomalies: a review of clinical and radiological findings of cases presenting with different complaints in childhood.

Congenital pulmonary vascular abnormalities arise from several etiologies. These anomalies are difficult to categorize and sorted into distinct classifications. Major pulmonary vascular abnormalities can be ranked as interruption of the main pulmonary artery or its absence, emergence of the left pulmonary artery in the right pulmonary artery, pulmonary venous drainage abnormalities, and pulmonary arteriovenous malformations (PAVMs). Some of the cases are asymptomatic and diagnosed by coincidence, whereas a few of them are diagnosed by typical findings in the newborn and infancy period, symptoms, and radiological appearances. Early diagnosis is important, since death may occur as a result of pulmonary and cardiac pathologies developed in patients with pulmonary vascular anomalies. In this case presentation, the clinical and radiological findings of patients that presented with different complaints and were diagnosed with pulmonary vascular anomalies were introduced.

Unusual Radiological Sign in Bronchial Atresia.

Bronchial atresia is usually diagnosed by incidentally detecting opacitiy at hilar ragion and hyperinflation around this opacity on chest X-ray. It may rarely be detected as air sac like atresic bronchus. The breath sounds in the right hemithorax were heard less when compared to the left hemithorax in the auscultation of a 16-year-old male patient with allergic rhinitis. The patient had no pulmonary complaints, and this finding was not recorded in his previous follow-up. In order to determine the etiology of hyperinflation seen on chest X-ray, computed tomography was performed. Hyperinflation was identified in the lower lobe superior segment of the right lung, which could be secondary to bronchial atresia. It was confirmed that in the evaluation of computed tomography with three-dimensional reconstruction, lower lobe superior segment bronchus of the right lung was atresic and contrary to expected mucus opacity in the distal of atresia, dilated bronchus was filled with air. This case was especially presented to lay emphasis on careful auscultation and share its unusual radiological presentation which had been reported twice before.

Pulmonary arteriovenous malformation in children.

Although pulmonary arteriovenous malformations (PAVM) are relatively rare in children, they are important in the differential diagnosis of common pulmonary problems, such as hypoxemia, hemoptysis and dyspnea on exertion. We report the cases of two PAVM patients with different presentations and describe the treatment strategies.

Hypersensitivity pneumonia in a schoolchild admitted to the hospital's asthma clinic.

Bird fancier's lung (BFL), also called bird-breeder's lung or pigeon-breeder's disease (PBD), is a hypersensitivity pneumonitis (HP) that is rare in children. A 9-year-old male patient complained of cough, dyspnea and chest pain, in his examination his lips were cyanosed and his SaO2 was 86% at room air. Bilateral crepitant rales and sibilant rhochi were also detected. In his thoracic computerized tomography, the ground glass areas were noted in both lungs. In his medical history, it was discovered that he lived above an office in which birds and bird manure were merchandised. Precipitant antibody level was determined. Since the levels of precipitant antibody were high and symptoms reappeared with natural provocation, our patient was diagnosed with PBD. The case diagnosed as BFL was presented in this study as an HP which should be considered in the differential diagnosis of children with respiratory distress syndrome and asthma clinic.

Chilaiditi Syndrome in Two Cases Presented with Respiratory Distress Symptoms.

Chilaiditi syndrome is a rare syndrome known hepatodiaphramatic interposition of as colon or small intestine. As this pathology is usually asymptomatic, it is incidentally identified in adults and rarely reported in children. Herein, two children cases are presented with respiratory distress, who were diagnosed as Chilaiditi syndrome by chest radiography.

Differences between pediatric extra-pulmonary and pulmonary tuberculosis: a warning sign for the future.

BACKGROUND: Tuberculosis (TB) remains a major global health problem. The childhood tuberculosis has some unique features different which makes the diagnosis more complicated. Here we described the epidemiologic, clinical and microbiologic features of children with extra pulmonary and pulmonary TB. METHODS: The data of the patients <14 years with active TB were collected and compared in pulmonary (PTB) and extrapulmonary TB (EXPTB) patients. RESULTS: A total of 128 cases was included. Forty-two cases occurred in children were < 5 years of age; 41 cases between 6-10 years and 45 cases > 10 years. PTB was present in 75,0% of the cases, and EXPTB was present in 25% of cases. There was no significant difference between the EXPTB and PTB by means of distribution of age groups (p=0,201). The rate of patients free of constitutional symptoms were significantly higher in EXPTB compared to PTB(p=0,000). There was no significant difference between EXPTB and PTB by means of sources detection(p=0,069). CONCLUSION: TB is still a major public health problem. EXPTB has an insidious and silent onset without any constitutional symptoms, and both microbiological confirmation and the source by an adult are not frequently found. Moreover, detection of the adult source is mandatory for controlling the TB disease in children.

The relationship between the myocardial T2* value and left ventricular volumetric and functional parameters in thalassemia major patients.

PURPOSE: Cardiac involvement in thalassemia major (TM) is mainly characterized by left ventricular dysfunction caused by iron overload. Cardiovascular magnetic resonance imaging (MRI) including myocardial T2* measurement is becoming increasingly popular for quantitatively evaluating myocardial iron overload. The aim of this study was to evaluate the relationship between the myocardial T2* value and left ventricular functional parameters and to examine the associations between the degree of cardiac iron load and various clinical parameters. MATERIALS AND METHODS: A retrospective analysis of 47 patients (25 males and 22 females; mean age, 23.0±5.4 years) with TM was performed. Myocardial iron load was assessed by T2* measurements, and volumetric functions were analyzed using the steady state free precession sequence. RESULTS In patients with myocardial iron deposition (T2* < 20 ms), the mean left ventricular ejection fraction (LVEF) was 64.73±4.94%. The LVEF of patients with myocardial siderosis was significantly lower than that of patients without myocardial siderosis (r=0.35, P = 0.014). Inverse and significant correlations between both the left ventricular (LV) end-systolic volume index and the LV end-diastolic volume index and the myocardial T2* value (r=-0.32, P = 0.027 and r=-0.29, P = 0.046, respectively) were observed. There was an inverse correlation between the myocardial T2* value and the liver iron concentration (r=-0.31, P = 0.037). Cardiac T2* was not associated with serum ferritin levels, pre-transfusion hemoglobin levels or the annual red cell consumption rate. CONCLUSION: Myocardial iron load assessed by cardiac MRI (T2*) is associated with deterioration in left ventricular function. Thalassemia major patients with myocardial siderosis may have LVEF values within normal limits, but this result must be interpreted cautiously.

Myocardial iron loading in patients with thalassemia major in Turkey and the potential role of splenectomy in myocardial siderosis.

Iron-induced cardiac disease is the leading cause of death in thalassemia major (TM). Splenectomy is performed in TM to reduce transfusion requirements and iron intake. Prevalence of myocardial siderosis and its relationship with splenectomy in 146 patients with TM were investigated. The patients with myocardial siderosis (T2*<20 ms) accounted for 42% of the cohort. Splenectomized patients had a higher incidence of myocardial siderosis (48%) compared with those having intact spleen (28%) and significantly higher myocardial iron content. Higher myocardial iron content in splenectomized patients may deserve special attention for the role of spleen in iron regulation.

Evaluation of the necessity of contrast in the follow-up MRI of schwannomas.

PURPOSE: The purpose of our study was to determine whether gadolinium is necessary in follow-up MRIs for evaluating vestibular schwannomas. MATERIALS AND METHODS: A retrospective analysis of 49 magnetic resonance imaging (MRI) examinations of 20 vestibular schwannoma patients was performed. Patients received between 1 and 4 follow-up scans, and the mean follow-up period was 15.3 months. Two radiologists independently reviewed the initial and follow-up MRI examinations. Tumor measurements obtained using the constructive interference in steady state (CISS) and contrast-enhanced T1-weighted (T1W) sequences were compared. Both radiologists used both of the sequences to analyze any differences in the tumor sizes measured in consecutive MRI scans. RESULTS: The linear anteroposterior and transverse tumor diameter measurements obtained by the two observers using both sequences were strongly correlated (r = 0.962-0.987, P < 0.001). The observers agreed to a very high degree when detecting changes in the tumor size using the CISS sequence (κ = 0.902, P = 0.0001), whereas the agreement with the contrast-enhanced T1W sequence was good but not as good (κ = 0.706, P = 0.001). CONCLUSION: CISS, as a contrast-free sequence, may be an option in regular follow-up MRIs of vestibular schwannomas.

Primary hyperparathyroidism in a young adult presenting with severe hypertension.

Hypertension is a significant cause of morbidity and mortality in childhood. Endocrine-related hypertension is rare in children. Hypercalcmia due to hyperparathyroidism is a rare cause of endocrine-related hypertension in childhood. We present a patient with severe headache, who was diagnosed with hypertension due to hyperparathyroidism. Hyperparathyroidism should be kept in mind in children with hypertension accompanied by hypercalcemia and hypophosphatemia.