Journal of medical case reports
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Gastrointestinal stromal tumors are the most common mesenchymal neoplasms affecting the gastrointestinal tract. The stomach is the most common location to be affected, and the rectum one of the rarest, but the whole gastrointestinal tract remains susceptible. Gastrointestinal stromal tumors account for only 0.1% of rectal tumors. Currently, endoscopic ultrasound plays an essential role in the diagnostic process of gastrointestinal stromal tumors, especially when the affected sites have a worse outcome and higher morbidity rates. ⋯ Gastrointestinal stromal tumors are rare tumors, and among the variety of primary location sites, the rectum is one of the rarest. The localization of this type of tumor has worse outcomes and higher morbidity rates. We report this rare case to emphasize the need for precise diagnosis and the important role of endoscopic ultrasound-guided fine needle aspiration in such situations.
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Case Reports
Classical Hodgkin lymphoma masquerading as chronic recurrent multifocal osteomyelitis: a case report.
Hodgkin lymphoma is a hematologic malignancy usually confined to lymphatic structures and commonly associated with constitutional symptoms. Bony involvement and musculoskeletal symptoms are uncommon and typically seen in advanced disease. In this case, we report an unusual presentation of classical Hodgkin lymphoma and highlight diagnostic challenges leading to the misdiagnosis and treatment as chronic recurrent multifocal osteomyelitis. ⋯ This case illustrates diagnostic difficulties of a musculoskeletal presentation of Hodgkin lymphoma, challenges of non-diagnostic bone marrow and lymph node biopsies, and resultant diagnostic delays in delivering a potentially curative therapy. Had the additional open bone marrow biopsy not been performed, the diagnosis and treatment of Hodgkin lymphoma would have been missed.
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Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories. ⋯ We report the genotype-phenotype correlations and clinical manifestations of a novel R248G cystic fibrosis transmembrane conductance regulator mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.
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Kikuchi-Fujimoto disease is a very rare cause of benign lymphadenopathy affecting mainly young Asiatic females. Little is known about the causative agent of Kikuchi-Fujimoto disease; however, there are hypotheses of infectious, autoimmune, or hyperimmune background of the disease that have not yet been confirmed in the conducted studies. Frequent episodes of tonsillitis preceding the onset of Kikuchi-Fujimoto disease have not been described as yet. ⋯ In the differential diagnosis of cervical lymphadenopathy in patients with frequent episodes of tonsillitis, Kikuchi-Fujimoto disease should be taken into account. Kikuchi-Fujimoto disease may convincingly mimic symptoms characteristic of lymphoma.
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The risk of non-Hodgkin lymphoma is increased 200-fold in individuals seropositive for human immunodeficiency virus compared to those free from human immunodeficiency virus. Human immunodeficiency virus-associated non-Hodgkin lymphoma is known for its atypical presentation, aggressive ability, widespread involvement, poor response to chemotherapy, and high relapse potential which makes both the diagnosis and management a difficult undertaking especially in resource-poor settings. ⋯ The presence of a mediastinal widening coupled with a history of unintentional yet significant weight loss in an individual who is human immunodeficiency virus seropositive should raise an index of suspicion for lymphomas and warrant aggressive investigations and timely management.