Sudden deterioration due to intra-tumoral hemorrhage of ependymoma of the fourth ventricle in a child during a flight: a case report

<p>Abstract</p> <p>Introduction</p> <p>To the best of our knowledge, the association between air travel and intra-tumoral hemorrhage in pediatric populations has never been described previously.</p> <p>Case presentation</p> <p>We report the case of a two-and-a-half-year-old Caucasian, Iranian boy with a hemorrhaging brain tumor. He had a posterior fossa midline mass and severe hydrocephalus. He had been shunted for hydrocephalus four weeks earlier and was subsequently referred to our center for further treatment. The hemorrhage occurred in an infra-tentorial ependymoma, precipitated by an approximately 700-mile air journey at a maximum altitude of 25,000 feet.</p> <p>Conclusions</p> <p>A pre-existing intra-cranial mass lesion diminishes the ability of the brain to accommodate the mild environmental disturbances caused by hypercarbia, increased venous pressure and reduced cerebral blood flow during long air journeys. This is supported by a literature review, based on our current knowledge of physiological changes during air travel.</p

LPS-responsive beige-like anchor gene mutation associated with possible bronchiolitis obliterans organizing pneumonia associated with hypogammaglobulinemia and normal IgM phenotype and low number of B

LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs * 2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency. © 2016 Tehran University of Medical Sciences. All rights reserved

Determination of TOF Characteristics in Iranian Patients

Objective: Tetralogy of fallot (TOF) is one of the most common forms of cyanotic congenital heart disease (CHD). The aim of this study was determination of demography, associated anomalies, peripheral pulmonary stenosis (PPS), blood grouping, Rh typing, operation results and complications in TOF. Material & Methods: The records of 270 patients were reviewed. These patients were admitted from 1993 to 2003, in Shaheed Rajaei Hospital. Findings: Male patients were 60.37% and females were 39.63%. Incidence of patent foramen ovale (PFO), Right Aortic Arch (RAA), coronary artery (CA) anomalies and other anomalies were 44.81%, 21.11%, 9.25% and 36.30% respectively. Single ostium coronary artery (SOCA) was the most common CA anomaly. The most common PPS was bifurcation stenosis. TOF was more common in O blood group patients. The mean age at the first palliative operation was 5.21 years and for TC was 7.19 years. Post surgical mortality rate was about 3% and morbidity rate, 12.18%. Conclusion: Trend toward earlier total correction (TC), and single stage early TC of TOF should be recommended as the preferred management strategy

Massive ovarian edema: a case report

Background: Massive ovarian edema is a rare condition that affects young women. Its cause is not clearly understood but some suggest recurrent ovarian torsions to be responsible. This disease is reported in 1969 for the first time and until recently only 80 cases are reported. Clinical presentation usually is recurrent abdominal pain. Microscopic examination shows severe edema which involves ovarian tissue especially in medulla. Rapid growth, large size of the ovary and absence of true neoplastic changes are characteristic of this disorder. Case Report: Our case showed itself by intermittent abdominal pain in a 10-year-old girl. Sonography revealed an ovarian enlargement measuring 10×7×7 cm in diameter and CT scanning showed a mass with water density in the ovary. It was grossly pale, soft and encapsulated. Frozen section histology revealed ovarian edema. The patient underwent partial oopharectomy. Permanent sections confirmed the diagnosis.Discussion: The most important differential diagnosis is fibroma and myxoma of the ovary. This disorder is benign and current therapeutic modalities include partial oopharectomy and fixation of ovaries to prevent recurrent torsions. When an ovarian mass is found in a young woman, a frozen section examination can be helpful in diagnosis and to avoid unnecessary oophorectomy. Awareness of surgeons and pathologists is essential to achieve this goal

"PRESUMED SYSTEMIC BACILLE CALMETTE-GUÉRIN DISEASE AFTER BCG VACCINATION: REPORT OF A CLINICAL CASE "

BCG (bacille Calmette–Guérin) vaccine is administered worldwide to prevent severe forms of tuberculosis. It is considered to be safe; however, occasional complications are seen. The most serious complication is BCGosis. We report a case of BCGosis with granulomatous hepatitis and acid-fast bacilli in liver and spleen. We treated the patient with antituberculosis drugs without any response to treatment

LPS-responsive beige-like anchor gene mutation associated with possible bronchiolitis obliterans organizing pneumonia associated with hypogammaglobulinemia and normal IgM phenotype and low number of B

LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs * 2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency. © 2016 Tehran University of Medical Sciences. All rights reserved