History Of Recurrent Respiratory Infections Research Articles

A 32-Year-Old Woman with Relapsing Pneumonia.

IntroductionIsolated right pulmonary artery agenesis in an adult patient is an extremely rare condition that requires a high level of suspicion to make the diagnosis.Case DescriptionA 32-year-old woman presented to the emergency room with a 4-month history of recurrent respiratory infections. Chest radiography and computerized tomography (CT) revealed alveolar opacities on the medium and inferior right lobes. Fibreoptic bronchoscopy with bronchial aspirate was negative on both cytological and microbiological analysis. Due to the persistent of the imaging findings after a full course of a wide-spectrum antibiotic, an angio-CT was performed, revealing a complete stop at the level of the right pulmonary artery. Angiography confirmed the diagnosis of right pulmonary artery agenesis.DiscussionCurrently, the patient has no exertional dyspnoea, screening for pulmonary hypertension has so far been negative and no further respiratory infections have occurred. It is important to call attention to a major congenital malformation that may remain asymptomatic until adulthood.LEARNING POINTSUnilateral pulmonary agenesis is a rare entity that can present in multiple forms.A high level of suspicion and a thorough investigation is required for the diagnosis, with angiography remaining important even though chest angio-CT findings can suggest the diagnosis.A major complication of this condition is pulmonary hypertension, which can appear early in infancy or with conditions that modify the pulmonary circulation such as pregnancy, although previous pregnancies did not trigger pulmonary hypertension in our patient.

Neuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children

BackgroundChildhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood. Therefore, the diagnosis of NEHI is challenging and requires a systematic approach.Case presentationWe report a case of an infant, with a history of recurrent respiratory infections and wheezing, who presented with persistent hypoxemia (PaO2 88 mmHg) and chronic respiratory symptoms, that prompted an extensive diagnostic work up for chILD; eventually a diagnosis of NEHI was made.ConclusionNEHI is a rare chILD disorder presenting in the first 2 years of life with common but challenging key clinical features. Increased awareness among pediatricians and prompt recognition of the clinical presentation may enable timely diagnosis and improve disease management and prognosis.

Evaluation of Pulmonary Function in Car Spray Paint Sprayers

Evaluation of Pulmonary Function in Car Spray Paint Sprayers

Swyer-James syndrome with vascular ring in a child: Echocardiogrpahic diagnosis

Swyer-James syndrome (SJS) is a relatively uncommon type of postinfectious obliterative bronchiolitis as a result of respiratory tract infection (RTI) in early childhood. Vascular ring (VR) is usually an underlying cause of RTI. When VR complicated with SJS, both diseases can be a relationship of cause and result, but have not been published in the past. Herein, we described an 8-year-old female school-age child who had history of recurrent RTI since age of 6 months. After screening echocardiographic findings of hypoplastic left pulmonary artery and aberrant right subclavian artery (ARSCA), confirmed by multisliced CT and functional evaluation by bronchoscopy and manometry. After she underwent aortopexy for ARSCA and balloon dilatation of constrictive bronchus and tracheal stenosis, and her growth pattern and pulmonary function improved progressively. Early detection by echocardiography and elimination of the associated underlying airway obstruction were mandatory for improvement of pulmonary function.

Rheumatoid Arthritis, Kartagener's Syndrome, and Hyperprolactinemia: Who Started It?

We report a case of an 18-year-old girl who presented to our hospital with history of recurrent respiratory infections, amenorrhea, and symmetric polyarthritis. She was diagnosed with rheumatoid arthritis (RA), Kartagener's syndrome (KS), and hyperprolactinemia. There have been very few case reports in the literature of RA occurring in the setting of KS, theoretically proposed to be due to chronic stimulation of the immune system by recurrent infections. Furthermore, hyperprolactinemia has been hypothesized to mirror RA disease activity and case reports of treatment with dopamine agonists have led to the speculation of whether or not they represent a new line of experimental treatment in the future. Our patient was found to have both KS and hyperprolactinemia together in the setting of RA, and based on our literature search, this is the first reported case of such a combination. This strikes a very intriguing question: are these three conditions interlinked by a yet to be defined association? And treatment of which condition leads to the resolution of the other?

Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review

Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in three reports. Here, we present the case of a 12-year-old girl with a history of recurrent respiratory infections, hypotonia, developmental delay, genu valgum, and hepatosplenomegaly. Radiographs revealed profound, ivory-white sclerosis of the metaphyses and epiphyses of the long bones in both the upper and lower extremities. Sclerosis also affected the ends or margins of the flat bones, including the mandible, clavicles, scapulae, ribs, iliac crests, ischia, pubic bones, talus, calcaneus, and some vertebrae, to varying degrees. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. Our patient is the fifth case of OMD reported in the international literature and shares clinical and radiological similarities with four other reported cases of OMD. However, the extensive interstitial pulmonary lesions observed on computed tomography images in the present case have not been previously documented. This pulmonary disorder, which may be associated with OMD, should be evaluated in subsequently encountered cases.

Clinical analysis of patients with primary ciliary dyskinesia in mainland China.

Primary ciliary dyskinesia (PCD) is a rare, genetic disorder featured with dysfunctional motility of cilia. Clinical presentations of PCD include situs inversus, repeated respiratory tract infections, otitis media, sinusitis and infertility. This study aims to provide clinical strategies on diagnosis and treatment of PCD. Clinical data of seven patients diagnosed as PCD in Zhongshan Hospital, Fudan University were analyzed. We also extracted data from other cases in mainland China from the China Academic Journals Full-Text Database by the end of 2012. A total of 127 cases of PCD were summarized and analyzed in this study. Seven patients in Zhongshan Hospital, Fudan University were finally confirmed to have PCD. All of them had clinical history of recurrent respiratory infection. Imaging analysis showed varying degrees of bronchiectasis. Pulmonary function tests in four patients showed combined obstructive and restrictive patterns. Three cases were confirmed to have PCD by electron microscopy. We then further extracted information from literature for those 127 PCD patients in mainland China. All of them had chronic respiratory infection. Seven cases were complicated with recurrent otitis media and 15 cases were complicated with infertility. A total of 119 patients were diagnosed with situs inversus totalis (94%). Among those 127 patients, only 9 patients' diagnosis was confirmed by electron microscopy. Four patients received sinus resection, and one patient received pulmonary lobectomy due to recurrent hemoptysis. One patient died of massive hemoptysis. Being a rare disease and easily confused with uncomplicated bronchiectasis, PCD diagnosis warrants particular attention. Recurrent respiratory infection, especially situs inversus could be the most important indicator of this disease.

Middle Lobe Syndrome Due to Calcified Adenopathy

Can Respir J Vol 21 No 4 July/August 2014 A 43-year-old nonsmoking man presented with a two-year history of recurrent respiratory infections. He had previously been given a clinical diagnosis of asthma. A review of systems was negative for aspiration, constitutional symptoms, occupational exposures and risk factors for tuberculosis and HIV. Spirometry demonstrated reduced forced expiratory volume in 1 s (78% predicted) without airflow limitation, and a methacholine challenge test was negative for asthma. Immunoglobulin levels and complete blood counts were normal. A chest radiograph (Figure 1) was abnormal, prompting a computed tomography (CT) scan of the thorax (Figures 2A and 2B). Bronchoscopic visualization of the right middle lobe bronchus revealed complete obstruction by inflamed bronchial mucosa and external compression. The hilar mass was identified and biopsied under endobronchial ultrasound guidance. A pathological review of biopsy specimens was negative for malignancy and revealed a mixed population of benign lymphocytes with no granulomas (Figures 3A and 3B). No mycobacteria were cultured. The patient was diagnosed with middle lobe syndrome (MLS) secondary to airway compression from an enlarged, partly calcified hilar lymph node, likely secondary to previous Histoplasma exposure given his residence in an endemic area. He was referred to thoracic surgery and scheduled for right middle lobectomy.

Identification of the First Mutation in a Bre Motif of the β-Globin Gene and its Inheritance with two Other α-Globin Gene Mutations in a Lebanese Family

A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected.

An uncommon presentation of an uncommon nephropathy: the karyomegalic interstitial nephritis

Karyomegalic interstitial nephritis (KIN) is a rare and certainly underdiagnosed nephropathy. It is characterized by a peculiar histological picture of interstitial nephritis associated with the presence of hyperchromatic, abnormally enlarged nuclei of tubular epithelial cells. KIN has an uncertain etiology, but should be suspected in young patients in the second or third decade of life presenting with progressive renal failure, proteinuria and/or hematuria and a history of recurrent respiratory infections. In these cases, the diagnosis should be suspected and confirmed by a renal biopsy. Herein, we report a case of KIN with atypical clinical presentation in a young patient with progressive kidney failure without proteinuria or hematuria or history of recurrent respiratory infections.

Congenital broncho-oesophageal fistula: An unusual cause of persistent pneumonia in a young adult

A 19-year-old female with a 3-day history of high temperature, productive cough and dyspnoea was admitted due to diabetic ketoacidosis and pneumonia of the right lower lobe. Antibiotics (amoxicillin-clavulanic acid), insulin, fluids and electrolytes were administered, as appropriate. The patient was doing well (normal temperature, normal glucose levels, normal acid-base balance) until the sixth day of hospitalization, when she reported bouts of cough when swallowing liquids. Barium oesophagography revealed the presence of a broncho-oesophageal fistula (BOF). Congenital BOFs are rare developmental malformations (only just over 100 reported cases in the literature), which are attributable to persistent attachments between the tracheobronchial tree and the oesophagus. When not combined with oesophageal atresia, symptoms may not appear until adult life. History of recurrent respiratory infections, bronchiectasis, haemoptysis and chronic cough associated with eating, may indicate investigation with conventional or multi-positional oesophagography. At the time that surgery was decided, our patient developed persistent pneumonia of both the middle and the lower right lobes. A fistulous tract between the medial segmental bronchus and the oesophagus was removed, along with right middle lobectomy. Post-operative clinical course was excellent.

Mucopolisacaridosis de tipo I Hurler: Informe de un caso

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress.

Swyer-James-MacLeod syndrome in a surgically treated child: a case report and brief literature review

Swyer-James-Macleod syndrome (SJMS) is a rare, complex disease characterized by unilateral hyperlucent lung or lobe owing to loss of pulmonary vasculature and alveolar hyperdistention. Treatment is generally conservative, and surgical management is rare. In fact, only 4 reports on surgically treated children with SJMS are available in the literature. We describe an 8-year-old patient with a history of recurrent respiratory infections since 2 months old. The patient presented with cough and dyspnea on effort. Chest radiograph showed hyperlucency and reduction of the right lung. Computed tomography revealed reduced volume and vasculature in the right lung, whereas pulmonary scintigraphy showed that 85% of ventilation and perfusion occurred in the left lung. Pulmonary function tests showed a forced expiratory volume in 1 second of 0.85 L (56% of expected value) and a forced vital capacity of 1.20 L (70% of expected value). The child underwent right pneumonectomy because of severe compromise of pulmonary function and recurrent respiratory infections. Histologic examination revealed panacinar emphysema and chronic bronchitis/bronchiolitis. At 6-month follow-up, the child showed improved symptoms and a forced expiratory volume in 1 second of 1.15 L (77% of expected value) and a forced vital capacity of 1.4 L (83% of expected value). This report shows that although rarely indicated, surgical treatment can improve quality of life and pulmonary function in SJMS.

Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities

Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene testing is described. Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).

Endovascular Treatment of Symptomatic Pulmonary Sequestration

Pulmonary sequestration is a rare congenital malformation whose origin is bronchial and arterial simultaneously and its vascularization comes from an anomalous systemic artery. Its clinical presentation includes recurrent pneumopathy in the same anatomic location of the lung and difficult to resolve or recurrent lung abscess. It is usually treated with antibiotherapy and eventual surgical resection. A 23-year-old woman with history of recurrent respiratory infections and three episodes of hemoptysis was admitted at the hospital. Computed tomography and magnetic resonance imaging confirmed diagnosis of pulmonary sequestration. The angiographic study showed the presence of three inflow arteries arising from the thoracic aorta (T10) and supplying the abnormal lung parenchyma at the base of the left hemithorax. The patient underwent endovascular treatment consisting of exclusion of the inflow vessels with Amplatzer occlusive devices and coils. Subsequent computed tomography angiogram confirmed complete infarction of the sequestration. At 7 months, the patient presented with a new episode of bronchial infection. Repeated angiography showed persistence of intermediate small nutrient branches that were treated with coil embolization. The patient is symptom-free at 41 months after this secondary procedure. Endovascular treatment of pulmonary sequestration, with selective embolization of the inflow arteries, is a very attractive minimally invasive therapeutic option, as compared with conventional surgery, and potentially less prone to associated complications.

Rituximab in c-ANCA associated vasculitic polyneuropathy complicated by local peritonitis

A 70-year-old woman presented with progressive weakness over 3 weeks and paresthesia of the lower extremities. Except for a recent history of recurrent respiratory tract infections, she had been healthy previously. Within hours after hospital admission, paresis progressed markedly, and she required intensive care. Physical examination showed sensory-motor polyneuropathy with tetraplegia and symmetrical distal sensory impairment of all extremities, no cranial nerve abnormalities nor autonomous dysregulation. Because of involvement of the diaphragm the patient was intubated and ventilated. The clinical presentation was suggestive of Guillain–Barre syndrome (GBS). CSF examination revealed 92 WBC/ll, 33,700 erythrocytes/ll, glucose 69 mg/dl, lactate 35.4 mg/dl and protein 181 mg/dl. Electrophysiology was consistent with a sensorymotor polyneuropathy with axonal affection. A cranial MRI demonstrated central nervous system involvement (Fig. 1g–i). Laboratory testings showed an elevated c-antineutrophil cytoplasmic antibodies (c-ANCA)-titer (168 U/ml) and slightly elevated creatinine. In synopsis with the patient’s history of recurrent respiratory infections, Wegener’s granulomatosis with vasculitic polyneuropathy and central nervous system involvement was suspected and confirmed by sural nerve biopsy (Fig. 1a–f), as well as skin , and nasopharyngeal mucosa biopsy (not shown). High-dose steroids, plasmapheresis, and intravenous immunoglobulins were sequentially administered without improving the patient’s symptoms. Then a severe lower gastro-intestinal bleeding, which eventually required surgical removal of the ileocecum complicated the clinical course. Histology, it revealed no signs of vasculitis, but a disseminated cryptitis of the colon. Subsequently, the patient developed a localized peritonitis due to abdominal wound healing disturbance and dehiscence, warranting multiple surgical revisions. Meanwhile, the patient’s neurological and pulmonary status remained unchanged. Because therapy-escalation seemed mandatory, administration of rituximab (dose: 375 mg/m in 4 weekly courses) was preferred to cyclophosphamide, which is described to worsen wound healing [1]. Remarkably, under rituximab, the abdominal infection did not recur and the patient’s condition improved substantially. Ten weeks after admission, the patient could be weaned off the ventilator and transferred to the general ward. Within the following weeks, muscle strength in the upper, and later on in the lower extremities, recurred and the patient was transferred to rehabilitation. The patient was able to touch her nose with the left hand and to lift up her right hand against gravity. Both legs could be elevated against gravity but she was still unable to walk. The neurological improvement was quantified using the Wegener’s J. Witsch (&) J. Braun G. Trendelenburg Department of Neurology, Charite University Medicine, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany e-mail: Jens.Witsch@charite.de

Unusual Detection of Tuberculosis in a Woman with Down's Syndrome

Unusual Detection of Tuberculosis in a Woman with Down's SyndromeA woman with Down's syndrome (DS) had sub-febrile temperature, nodular/patchy shadows on the chest X-ray over the right pulmonary base, and a history of recurrent respiratory infections. She was pale, asthenic, uncommunicative, mildly anemic and the erythrocyte sedimentation rate was 80/first hour. The tuberculin skin test (TST) PPD3 was negative. Mycobacterium tuberculosis was isolated from oral mucosal brushing, sensitive to the first line anti-tuberculosis drugs. Patients with DS and other mental disabilities need special care and attention during diagnostic procedures for tuberculosis (TB).

Features associated with underlying HIV infection in severe acute childhood malnutrition: a cross sectional study

Up to half of all children presenting to Nutrition Rehabilitation Units (NRUs) in Malawi with severe acute malnutrition (SAM) are infected with HIV. There are many similarities in the clinical presentation of SAM and HIV. It is important to identify HIV infected children, in order to improve case management. This study aims to identify features suggestive of HIV in children with SAM. All 1024 children admitted to the Blantyre NRU between July 2006 and March 2007 had demographic, anthropometric and clinical characteristics documented on admission. HIV status was known for 904 children, with 445 (43%) seropositive and 459 (45%) seronegative. Features associated with HIV were determined. Associations were found for the following signs: chronic ear discharge (OR 14.6, 95%CI 5.8-36.7), lymphadenopathy (6.4, 3.5-11.7), clubbing (4.9, 2.6-9.4), marasmus (4.9, 3.5-6.8), hepato-splenomegally (3.2, 1.8-5.6), and oral candida (2.4, 1.8-3.27). Any one of these signs was present in 74% of the HIV seropositive, and 38% of HIV uninfected children. A history of recurrent respiratory infection (OR 9.6, 4.8-18.6), persistent fever, recent outpatient attendance, or hospital admission were also associated with HIV. Persistent diarrhoea was no more frequent in HIV (OR 1.1). Orphaning (OR 2.1, 1.4-3.3) or a household contact with TB (OR 1.7, 1.1-2.6), were more common in HIV. Each of these features were present in >10% of seropositive children. HIV infected children were more stunted, wasted, and anaemic than uninfected children. Features commonly associated with HIV were often present in uninfected children with SAM, and HIV could neither be diagnosed, nor excluded using these. We recommend HIV testing be offered to all children with SAM where HIV is prevalent.

Myelodysplasia and Good syndrome. A case report

Good syndrome (GS) is a rare adult-onset immunodeficiency disease characterised by hypogammaglobulinaemia and thymoma. Here we describe a 72-year-old male patient who was diagnosed with GS when he was 62, after a two-year history of recurrent respiratory infections. A chest CT scan showed a mediastinal mass which was surgically removed; its histology revealed a thymoma. The patient was hypogammaglobulinaemic and his clinical condition dramatically improved after starting an appropriate dosage of IVIG. Two years ago he developed a normochromic normocytic anaemia requiring several transfusions. A bone marrow biopsy revealed a myelodysplastic syndrome. The patient started cyclosporine and the anaemia gradually improved, achieving transfusion independence.

Congenital tracheal stenosis and an anomalous origin of the right upper lobe bronchus

In October, 2006, a 29-year-old woman visited our hospital because of severe dyspnoea. She had a history of recurrent respiratory infections. On admission, mild wheezing was noted at rest, and on exercise she developed a noticeable stridor. Serum C-reactive protein was slightly increased. Initially, she was treated for asthma with oxygen and nebulised salbutamol and dexamethasone. A highresolution CT scan of the chest the following day showed striking narrowing of the entire trachea with a 7 mm anteroposterior diameter. A three-dimensional image reconstructed from the CT scan showed generalised hypoplasia of the trachea and an anomalous origin of the right upper lobe bronchus with a narrow opening (fi gure). Final diagnosis was congenital tracheal stenosis with viral respiratory infection. She was successfully treated and was discharged in November, 2006. Although very rare, congenital tracheal stenosis should be considered as a diff erential diagnosis of intractable adult asthma. Lancet 2008; 371: 1526