The American journal of case reports
-
Review Case Reports
Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review.
BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. The subsequent characteristic clinical features of dyspnea and hypoxia are a manifestation of these microliths. There have been fewer than 1000 cases of pulmonary alveolar microlithiasis reported worldwide, and there have been 19 reported lung-transplanted patients. ⋯ After a successful extubatation with stable vitals and good recovery, he was discharged home in stable condition with planned follow-up. CONCLUSIONS We report a case of pulmonary alveolar microlithiasis successfully treated with a bilateral lung transplant. Although pulmonary alveolar microlithiasis is a rare entity, healthcare providers should consider it in the differential diagnoses of parenchymal lung diseases and differentiate it from tuberculosis and pulmonary fibrosis.
-
Case Reports
Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome.
BACKGROUND The urea cycle converts amino acids to urea and is excreted by the kidneys. Ornithine carbamoyltransferase (OTC) deficiency is a rare X-linked urea cycle disorder which results in hyperammonemia. Diagnosis is made based on a clinical presentation of poor feeding, hypotonia, biochemical profile, and genetic testing. ⋯ After co-diagnosis was established, effective management required medications for both disorders in concordance with dietary restriction. CONCLUSIONS This is an extremely rare case of OTC deficiency, with a vague presentation in an elderly female. Exploring compounding genetic disorders in the presence of one that is already established and early recognition are crucial for prompt diagnosis and management.
-
Case Reports
Life-Threatening Tongue and Retropharyngeal Hemorrhage in a Patient with Hemophilia A with Inhibitors.
BACKGROUND Massive tongue hemorrhage in patients with hemophilia is a medical emergency because it can lead to airway obstruction. However, managing bleeding in patients with inhibitors is more difficult than in patients without inhibitors. We report a case of life-threatening massive tongue and retropharyngeal hematoma in a patient with hemophilia A who had inhibitors. ⋯ CONCLUSIONS Because tongue hematomas progress dramatically within a few days, prompt airway maintenance by tracheotomy under appropriate hemostatic therapy must be considered. Furthermore, emicizumab induction after primary hemostasis prevents further bleeding. We suggest that initiating emicizumab therapy is a good choice to prevent further bleeding after critical bleeding events if the patient has not received the drug previously.
-
BACKGROUND Catheter ablation for atrial fibrillation is an important therapeutic intervention. One of the most frequent complications of this procedure is vascular issues including arteriovenous fistula. Iatrogenic atrial septal defect (IASD) has been reported as a complication of transseptal puncture; however, no data are available demonstrating any coexistent of arteriovenous fistula with IASD. ⋯ CONCLUSIONS Vascular access during catheter ablation for atrial fibrillation may result in arteriovenous fistula. This condition might affect right atrium pressure leading to increased diameter of previous puncture site at the interatrial septum, causing IASD with significant shunting. In this group of patients, arteriovenous fistula should be treated as soon as possible.
-
BACKGROUND Systemic lupus erythematosus (SLE) is characterized by multiorgan involvement and presence of autoantibodies. SLE has a broad range of presentations and manifestations, and as such, its course and organ involvement are unpredictable. The disease results from the interaction of genes, environment, and random effects combining to lead to a loss of tolerance to self-antigens and active autoimmunity. ⋯ Autoimmune myelofibrosis could be the first and only presenting feature of SLE. It is sensible to recognize this relationship, as prompt diagnosis and treatment is crucial. Corticosteroids have been shown to be useful in treating both SLE and the associated autoimmune myelofibrosis.