BMJ case reports
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Osler-Weber-Rendu syndrome, or hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectases and arteriovenous malformations (AVMs). Diagnosis is clinical and treatment is supportive. The authors demonstrate a safe anaesthetic approach for a patient with HHT. ⋯ Anaesthetic management of patients with HHT is a challenge. The patients should be carefully studied before surgery, to reduce perioperative morbidity and mortality. Regional anaesthesia may be a good alternative to general anaesthesia, but the use of neuroaxial techniques is still controversial.
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Oncogenic osteomalacia (or tumour-induced osteomalacia) is a rare paraneoplastic syndrome caused by overproduction of fibroblastic growth factor 23 (FGF-23) by tumours. Excessive production of FGF-23 can lead to severe, symptomatic hypophosphataemia. ⋯ We present a case of a 68-year-old woman with an FGF-23 producing B cell non-Hodgkin's lymphoma. Treatment with immunochemotherapy resulted in normalisation of serum FGF-23 and phosphate levels.
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A 15-year-old girl with a recent diagnosis of acute lymphoblastic leukaemia was admitted to hospital with pancytopaenia after having received high-dose intrathecal methotrexate 1 day prior. During the next week she had intermittent episodes of alternating hemiparesis associated with speech arrest lasting minutes to hours at a time. ⋯ MRI of the brain showed features consistent with methotrexate encephalopathy. This report discusses the typical clinical and radiological features of methotrexate neurotoxicity in addition to differential diagnoses and the proposed pathophysiological mechanisms.
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Acute compartment syndrome requires urgent fasciotomies to prevent irreversible muscle damage. We present a case of massive iliofemoral deep vein thrombosis (DVT) presenting as acute compartment syndrome. A healthy 21-year-old man presented with a 2-day history of worsening left leg pain with swelling and bluish discolouration. ⋯ Failure to treat early carries a high degree of morbidity, with amputation rates up to 50% and mortality rates between 25% and 40%. It is important to recognise compartment syndrome as an acute presentation of PCD. Urgent fasciotomies can prevent limb amputation and mortality.
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Sjögren-Larsson syndrome is a recessively inherited disease caused by a deficiency of fatty aldehyde dehydrogenase with presenting features of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The basic pathogenic mechanism is deficiency of fatty aldehyde dehydrogenase, which may lead to an accumulation of long-chain fatty alcohols hampering cell membrane integrity, which further disrupts the barrier function of skin and white matter of the brain. ⋯ Although there is no definitive cure for Sjögren-Larsson syndrome, most patients survive until adulthood and management involves therapies directed towards controlling specific problems. We present a case of Sjögren-Larsson syndrome with classical clinical and MRI features, including a few distinctly atypical characteristics in various attributes.