The American journal of the medical sciences
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Pulmonary embolism is a significant complication of N-butyl-2-cyanoacrylate, commonly known as histoacryl, used to sclerose bleeding gastroesophageal varices. We present a 50-year-old female with seronegative chronic liver disease who was managed with endoscopic histoacryl injection sclerotherapy for bleeding gastric fundal varices. ⋯ On subsequent outpatient follow-up, the patient showed no signs of any long-term consequences. Our aim is to alert physicians regarding the uncommon occurrence of acute respiratory distress secondary to pulmonary embolism following histoacryl injection sclerotherapy, as well as to describe its clinical and radiological manifestations.
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Review Case Reports
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Hemophagocytic lymphohistiocytosis(HLH) is a rare highly-fatal disease presenting with fever, hepatosplenomegaly, and pancytopenia and has a poor prognosis. Homozygous or semi-zygous or complex heterozygous variants can cause familial HLH and heterozygous carriers are frequently seen in secondary HLH. A 42-year-old male patient was admitted to the hospital for persistent fever, fatigue, and splenomegaly. ⋯ After a brief remission with dexamethasone and etoposide-based therapy, the disease relapsed quickly, and an allogeneic hematopoietic stem cell transplant was performed to achieve complete remission. To date, the patient's condition was in complete remission. Our study detected a rare missense mutation in the PRF1 gene in a patient with HLH disease and the c.674G>A mutation may be rated as a possible pathogenic variant.