Mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms (MELAS) is a rare mitochondrial disorder that typically presents before the age of 40 with most patients diagnosed before the age of 20. Symptoms and signs typically include mitochondrial myopathy, encephalopathy with stroke-like episodes, seizures and/or dementia, and lactic acidosis. We present a case of a 56-year-old lady presenting with recurrent ischaemic strokes and seizures associated with non-territorial low attenuation areas on brain imaging. Together with a raised serum lactate and background history of Syndrome of Inappropriate secretion of Anti-Diuretic Hormone (SIADH), genetic analysis was carried out that confirmed the presence of the most common mutation associated with MELAS syndrome which is m.3243A>G mutation. This case raises the importance of considering a diagnosis of inherited mitochondrial disorder when faced with recurrent atypical stroke-like episodes, when neuro-imaging is inconsistent with ischemic infarction, even in adults or elderly individuals. It also highlights the importance of background history and associated conditions that should be put into consideration when thinking about differential diagnosis.
This case demonstrates the therapeutic challenges encountered when managing an acute pulmonary embolism in a cancer patient with thrombocytopenia. A 64-year-old man with a history of lung cancer receiving chemotherapy was admitted to Walsall Manor Hospital with haemodynamic instability consistent with a pulmonary embolism, proven on computed tomographic pulmonary angiogram. His platelet count was noted to be 35×10 9 /l (chemotherapy-induced thrombocytopenia). After discussions, he was deemed not suitable for thrombolysis based on risk versus benefits. The patient was initially transfused one adult dose of platelets and treated with half the therapeutic dose of low molecular weight heparin (LMWH). The same management plan was followed until the platelet count exceeded 50×10 9 /l, after which the patient was established on the full therapeutic dose of LMWH. Clinically, the patient improved and was discharged. Three months after discharge, follow-up revealed sustained clinical improvement while the patient continued to be on the full therapeutic dose of LMWH with a stable platelet count. LEARNING POINTS Cancer patients have a three-fold higher risk of venous thromboembolism compared with non-cancer patients, but also a higher risk of bleeding, hence neoplasm is considered an absolute contraindication to thrombolysis by the European Society of Cardiologists. The management of an acute pulmonary embolism in cancer patients with thrombocytopenia is still debated. However, a few recognised medical societies and expert opinions have established recommendations on this specific area, such as the British Committee for Standards in Haematology, the American Society of Clinical Oncology and the International Society of Thrombosis and Haemostasis. Expert opinion agrees on: giving the full therapeutic dose of low molecular weight heparin (LMWH) if the platelet count is above 50×10 9 /l; if it drops below 50×10 9 /l, halving the dose of LMWH with or without platelet transfusion until the platelet count improves above 50×10 9 /l; and when the platelet count is below 20–30×109/l, withholding anticoagulation and considering the insertion of an inferior vena cava filter.
We describe the case of an 84-year-old woman who presented with right lower chest pain, anaemia and newly deranged liver function which was followed by massive upper gastrointestinal (GI) bleeding with no source of bleeding found on upper GI endoscopy. CT angiography of the GI tract confirmed rupture of a pseudoaneurysm of the right hepatic artery (RHA) that was treated successfully with trans-arterial embolization of the RHA.LEARNING POINTSIf upper gastrointestinal (GI) endoscopy fails to identify the source of upper GI bleeding, CT angiography is required to search for rare causes such as pseudoaneurysm of the right hepatic artery (RHA) with fistula formation with the GI and biliary tract, along with other causes such as aorto-enteric fistula.Pseudoaneurysm of the RHA is commonly secondary to recent surgery or trauma and spontaneous occurrence is very rare.Endovascular repair using transcatheter arterial embolization is the treatment of choice but if it fails, emergency laparotomy should be considered.
A 34 year-old Afro-Caribbean female presented with recurring episodes of fever and lower abdominal pain over a period of two months not improving despite courses of antibiotics for possible recurrent urinary tract infections. On admission to hospital, patient was treated for a possible pyelonephritis or pelvic inflammatory disease (PID). Extensive investigations into possible source of infection were carried out. However, all of the repeated microbiological cultures were normal. Patient was investigated further for other possible causes including connective tissue disease, haematological disorders, or neoplasm, all of which were normal. Diagnosis of adult onset Still's disease (AOSD) was confirmed by a rheumatologist based on Yamaguchi's diagnostic criteria for AOSD alongside significantly raised serum ferritin. Patient was treated with steroids to which she showed remarkable clinical improvement alongside marked reduction in her serum ferritin levels.
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