BMJ Case Reports最新文献

A woman in her 20s presented with nephrotic syndrome and hyperemesis in early pregnancy. Pertinent initial investigations revealed a severe acute kidney injury, a serum albumin of 19 g/L, a random protein creatinine ratio of 800 g/mol and microscopic haematuria. All immunological and infection serology testing including anti-glomerular basement membrane (anti-GBM; ELISA) were negative. Kidney biopsy demonstrated diffuse crescentic glomerulonephritis with cellular crescents involving >90% of glomeruli, with immunofluorescence demonstrating intense linear reactivity for IgG consistent with atypical anti-GBM glomerular nephritis. Early pregnancy termination and treatment with immunosuppression were chosen after shared decision-making between the patient and physician. The patient had a poor response to treatment and remained dialysis dependent 12 months later.

This case report describes a woman in her late 50s with mesenteric volvulus, an uncommon and potentially fatal condition. She developed excessive abdominal distension, nausea and vomiting for a duration of 2 days. The preliminary ultrasound indicated a large, thick-walled, tight fluid region in her upper abdomen, indicating a probable gastric outlet obstruction. A subsequent contrast-enhanced CT scan of the abdomen confirmed the diagnosis, showing significant distension of the stomach with a thick septum displacing adjacent organs. The mesenteric volvulus was surgically treated as an emergency to restore blood flow to the afflicted mesentery. This condition poses a serious concern due to decreased blood flow and ischaemia, and this example emphasises the necessity of a CT scan for early and precise diagnosis and offers a comprehensive insight into the nature of the volvulus, resulting in prompt surgical treatment and improved patient outcome.

We present the case of a patient with cystic fibrosis on long-term oral linezolid treatment for Mycobacteria abscessus lung infection who developed severe linezolid-induced lactic acidosis (LILA) resulting in deranged clotting and pancytopenia. The lactic acidosis was resistant to treatment with intravenous fluid but resolved within 20 hours of initiating continuous veno-venous haemofiltration. An unintended consequence of haemofiltration was that vascular access interfered with effective chest physiotherapy, resulting in worsened lung consolidation requiring prolonged intravenous antibiotic therapy for coexisting Pseudomonas aeruginosa infection. Given the potential mortality and morbidity of LILA, monitoring lactate levels may be clinically important but the optimum timing of monitoring is currently unclear.

Acquired factor V (FV) inhibitors are extremely rare and present with a broad spectrum ranging from asymptomatic laboratory anomalies to life-threatening critical bleeds. The overall rarity along with the heterogeneity of clinical presentations poses a challenge in diagnosis. There is currently no standard of care immunosuppressive therapy (IST) in these settings. Most patients in the literature receive multiple agents, including but not limited to combinations of IST and/or recombinant products.Here, we present a case of a man in his 50s who initially presented with oozing at peripheral IV and tracheostomy sites with intermittent epistaxis. He was later found to have an FV activity level of less than 1% and an FV inhibitor titre of 184 Bethesda units/mL. The patient was initially stabilised with fresh frozen plasma, platelets and tranexamic acid and treated with intravenous immunoglobulin and glucocorticoids. However, this resulted in only mild improvement in his coagulation studies. He was then treated with weekly doses of rituximab for 4 weeks with ongoing glucocorticoids without complications. This adds to the growing literature on rituximab as a possible treatment option for acquired FV inhibitors.

A woman in her early 60s presented to the emergency room with worsening pain 10 days after an injury to her right abdomen. CT revealed a large subcutaneous haematoma and contained small bowel perforation. She was tachycardic and anaemic and her international normalized ratio (INR) was 2.6 on warfarin for atrial fibrillation. General surgery was consulted and percutaneous drainage of the perforation was recommended, requiring an INR of 1.5 or less. Intravenous (IV) phytonadione was administered to accelerate the lowering of INR; however, the patient developed a severe infusion-related reaction. She recovered once IV phytonadione was stopped and oral diphenhydramine was administered. However, there was still a need for warfarin reversal therapy. A 1.25 mg dose of oral phytonadione was trialled 2.5 hours later and well tolerated. An additional rechallenge of 5 mg by mouth was given without reaction (<8 hours after the initial reaction). Her INR was 1.5 the next morning.

Protein C deficiency is a hereditary disorder that increases the risk of thrombotic events but has unclear effects on rotational thromboelastometry (ROTEM) analysis. A man in his 60s with a history of protein C deficiency and multiple thrombotic events underwent inferior vena cava (IVC) filter removal, iliocaval thrombectomy and infrarenal IVC placement for IVC-related complete iliocaval and common femoral vein thromboses. A ROTEM analysis showed normal coagulation in NATEM and EXTEM and only a slight shortening in A10 and A20 in INTEM, which was unexpected given his diagnosis of protein C deficiency. Normal results indicate that there is complexity and variability of coagulation to maintain a balanced state even in individuals with underlying coagulation disorders.

The clinical spectrum of antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) with renal involvement includes forms with a slowly progressive course. These forms are poorly recognised and, therefore, often associated with misdiagnosis and delayed treatment. We present here a case of slowly progressive AAV with renal involvement. A patient in her 50s with long-standing hypertension was evaluated for chronic renal impairment. Laboratory diagnostics revealed mild glomerular disease with relevant proteinuria and glomerular microhaematuria. Furthermore, significantly elevated ANCA of the antimyeloperoxidase (MPO-ANCA) type was detected. Renal biopsy provided evidence of arteriolosclerosis with an increased number of obliterated glomeruli but no evidence of active glomerulonephritis. The initiation of immunosuppressive therapy led to an improvement in both the clinical and the laboratory courses.Our case emphasises the importance of ANCA testing, particularly in cases of unclear glomerulopathy with an atypical presentation of ANCA-associated glomerulonephritis. It also illustrates the diagnostic challenges often encountered with slowly progressive AAV.

Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important phenotypic features of this syndrome. Most cases are identified in early childhood. The report discusses the retrospective diagnosis of Bardet-Biedl syndrome in a heart failure patient. On examination, the patient revealed central obesity, polydactyly, retinitis pigmentosa and an atrial septal defect. The involvement of multiple systems with phenotypic traits resulted in a syndromic association. The woman was treated conservatively for her symptoms with diuretics. Past hospital visits by the patient overlooked the diagnosis of Bardet-Biedl syndrome. This syndrome is diagnosed using the criteria established by Beales and colleagues. Although specific management strategies for treating the syndrome have yet to be proposed, diagnosis aids in genetic counselling for affected couples, metabolic syndrome management, blindness rehabilitation and early detection of organ damage, allowing for adequate follow-up.

Temozolomide (TMZ)-levetiracetam (LEV) combination therapy in glioblastoma management is gradually becoming a mainstay treatment given its superior effect compared with TMZ monotherapy. While there have been previous cases of hepatotoxicity, there are no prior reports of vanishing bile duct syndrome (VBDS) associated with TMZ-LEV combination use. This case report details a male in his 50s who had recently completed TMZ and LEV for right frontal lobe glioblastoma. He presented 3 days later with painless jaundice, dark urine and pale stools. Laboratory evaluation was remarkable for marked hyperbilirubinemia and transaminitis. Extensive work up for hepatic and extra-hepatic causes of jaundice was of no yield, thus necessitating a liver biopsy. Liver pathology showed a non-specific histomorphology pattern suggesting drug-induced liver injury and cholestasis with severe ductopenia. VBDS due to TMZ and LEV was diagnosed. The patient followed with the gastroenterology clinic over 6 months for persistently elevated liver function tests before suffering a fatal cardiac arrest.