Craniometaphyseal dysplasia (CMD) is a genetic craniotubular bone disorder characterized by early progressive hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones. We present the case of a patient with a confirmed history of the autosomal dominant form of CMD, associated with symptoms of obstructive sleep apnoea syndrome. Examination and imaging studies revealed several unusual features in addition to the common findings of CMD such as: bimaxillary retrusion with hyperostosis of the mental area, severe notching of the external occipital protuberance, huge occipital horn, decreased angle of the mandible with notching of the body and thickening of the areas of muscle attachment, and macrodontia. The literature and differential diagnoses are reviewed.
INTRODUCTION: Acute Myelogenous Leukemia (AML) is the most common form of acute leukemia in the adult population, accounting for approximately 80% of acute leukemias in adults. The incidence of AML increases with advancing age. In patients younger than 65 years, the incidence is approximately 1.3 per 100000 people, while patients older than 65 years, the incidence is approximately 12.2 per 100000. Hematologic malignancies, such as acute and chronic leukemias, rarely result in pleural effusion during their clinical course. Pulmonary complications of AML are observed in 19%, infection being the most common. Most cases of leukemic pleural effusion reflect disease severity and have been associated with a poor prognosis.CASE PRESENTATION: This is a case of a 36 year-old male with a past medical history of AML with complex cytogenetics (rearrangements 11q, 17q, 17p); treated with Cytarabine and Daunorubicin who came to the emergency room due to general malaise and epigastric pain. Vitals signs remarkable for tachycardia. Physical examination showed decreased breath sounds on left lower lung and dullness to percussion. Laboratories were remarkable for leukopenia, normocytic anemia and normal platelet count. Renal/hepatic function and electrolyte levels were within normal limits. During hospitalization, patient presented with shortness of breath, tachycardia and decreased peripheral saturation. Chest CT Scan was completed and revealed pulmonary infiltrates with miliary pattern and pleural trabecules associated with a moderate left sided pleural effusion. The patient was initiated on Levofloxacin and consulted to Pneumology services for further work up. Bronchoscopy with BAL was performed and was negative for infection. A thoracentesis was completed and consistent with exudative fluid per lights criteria. Cytology revealed large monomorphic population of atypical blastoid cells showing hypochromcatic irregular nuclei, nucleoli and scant cytoplasm. Immunohistochemistry positive for CD3, CD4, CD15, CD 34, CD68 and Myeloperoxidase with a Ki67. These findings are suggestive of granulocytic sarcoma (chloroma).DISCUSSION: Leukemic involvement of the pleura can manifest with pleural effusion, pleural masses or thickening, or a combination of the two. In leukemic patients, common causes of pleural effusion include bacterial or viral infections, or disseminated solid tumors and complication of chemotherapy. Pleural effusions in these patients are more likely to be benign than malignant.CONCLUSIONS: Pleural effusions may be the first presentation of a hematologic malignancy or may develop during the course of the disease. These are a rare occurrence in patients with AML also known as granulocytic sarcoma or pleural chloroma. This demonstrates the importance of the cytopathology specimens obtained in pleural fluid since an early detection of any determined disease could guide effective therapy.
INTRODUCTION: Myelodysplastic syndrome (MDS) refers to an heterogenous group of clonal hematopoietic disorders, characterized by peripheral blood cytopenia. This disorder may present with clinical manifestations of anemia, thrombocytopenia or neutropenia, including symptomatic anemia, progression to acute myeloid leukemia or infections. Patients with MDS and severe neutropenia are at high risk for bacterial infections, however infections may rarely occur secondary to fungal invasion.CASE PRESENTATION: This is a 71-year-old female with history of hypertension, hyperlipidemia, coronary artery disease and MDS with positive RAEB2 and p53, treated with decitabine. She was initially admitted with diagnosis of symptomatic anemia, after developing general malaise, with associated shortness of breath and lightheadedness 2 days prior. Denied fever, cough, chest pain, abdominal pain, hematemesis, hematochezia, melena, insect bites or recent travel. Vital signs showed temperature of 37 C, heart rate in 109 bpm and blood pressure of 115/70 mmHg. Initial physical exam was remarkable for conjunctival pallor. Laboratories revealed leukocytopenia of 0.7 x10^3/uL, anemia of 6.1 g/dL, thrombocytopenia in 95 x10^3/ uL and absolute neutrophil count in 0 cells/uL. Chest x-ray revealed no acute cardiopulmonary pathologies. She underwent transfusion of 2 units of PRBCs, after which hemoglobin levels reached 8.2 g/dL. Nevertheless, on the third day, she developed fever of 39.4C and nonproductive cough, for which ongoing diagnosis of neutropenic fever was considered. Cultures were taken and was started on cefepime. Upon examination, she had decreased breath sounds and developed 1.5cm circular violaceous lesion on the left cheek, circular violaceous lesion on the hard palate, as well as, multiple 0.5cm circular violaceous lesions on the left lower extremity and abdomen. Chest CT scan exhibited bilateral upper consolidations, raising concern for possible disseminated Fusarium fungal infection, for which amphotericin B was started. Biopsies of the lower extremity's lesion, revealed cutaneous hemorrhage, however biopsy of the hard palate's lesion revealed aspergillus spp. These findings were consistent with invasive aspergillosis.DISCUSSION: Invasive aspergillosis refers to illness caused by pulmonary or extrapulmonary dissemination of Aspergillus spp. This condition is uncommon and occurs primarily in immunocompromised patients associated with therapy for hematologic malignancies, hematopoietic cell transplant or solid organ transplantation. Management should focus on prevention, prompt diagnosis, as well as early initiation of antifungal therapy. Surgery is reserved for severe cases.CONCLUSIONS: Tissue invasion is an unusual presentation of invasive aspergillosis, however its appearance in an immunocompromised individual should raise suspicion of fungal dissemination and further evaluation should be pursued.
INTRODUCTION: Pleural effusion (PE) is an accumulation of excess fluid in the pleural space. PE is classified as transudative or exudative. Transudative pleural effusion can result from: increased hydrostatic pressure, decreased oncotic forces or increased negative intrapleural pressure. On the other hand, exudative pleural effusion result from increased capillary permeability and impaired lymphatic drainage caused by inflammatory processes. Parapneumonic effusions such as empyema are related to pneumonia in 20-40%. ß hemolytic Lancefield group A streptococcus pyogenes (GAS) is a common cause of upper respiratory tract and cutaneous infections which commonly is related to streptococcal toxic shock syndrome. GAS is an uncommon pathogen with 1.14 per 100,000 habitants associated to bacterial pneumonia, however the prevalence of GAS associated to empyema is only 0.7%. CASE PRESENTATION:Case of 46-year-old man with history of IVDA who arrived to urgency room due to shortness of breath, dry cough and left pleuritic chest pain of 3 weeks of evolution. He had a chest trauma as a pedestrian 2 weeks prior arrival. He denied fever, night sweats, hemoptysis, palpitations, or weight changes. Vitals signs were remarkable for tachycardia, tachypnea and decreased peripheral oxygen saturation. Physical examination was remarkable for bilateral decreased breath sounds and left side dullness to percussion. ABG's with oxygen supplementation revealed hypercapnia 57.3 mmHg with elevated A-a gradient 66.3 mmHg. CBC showed leukocytosis with left shifting. Chemistry panel was remarkable for metabolic alkalosis 31 mmol/L and lactate dehydrogenase was elevated 615 IU/L. Chest X-Ray showed left sided white lung, followed by a chest CT with bilateral pleuro-parenchyma fibrotic changes, bullae formation, centrilobular emphysema, patchy ground glass appearance at both lung fields and decreased right lung volume with ipsilateral displacement of the heart and mediastinal structures with large, multiloculated left pleural effusion with increased density. Left side thoracentesis performed collecting 120ml of purulent fluid, elevated WBC 150,000 with PMN 65% and gram stain positive. Chest tube was placed and drain 1400ml of brown-yellow purulent fluid and pleural culture showed growth of streptococcus pyogenes group A. Patient started on directed IV antibiotic therapy.DISCUSSION: Empyema is an accumulation of excess pus in pleural space. The M protein, the major virulence factor, is a macromolecule incorporated in fimbriae present on the cell membrane projecting on the bacterial cell wall. It is the primary cause of antigenic shift and antigenic drift among GAS. CONCLUSIONS:We expect to contribute awareness and knowledge to the medical field to always include empyema in the working diagnosis of all patients with progressive dyspnea after blunt trauma.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.