BMJ case reports
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A 32-year-old woman with a painful swelling around the right eye few hours after blowing her nose, presented to the accident and emergency department. There was no associated history of facial trauma. Examination revealed a grossly swollen right eye and palpable subcutaneous emphysema. ⋯ The patient was admitted and managed conservatively with antibiotics. She made a full recovery with complete resolution of all her symptoms. A nasal bone fracture was also seen on CT scan and even though the patient could not recall any history of facial trauma, it was an incidental finding.
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Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. ⋯ The prognosis is poor, with most babies dying in infancy. Ethically, it is important to consider the benefit versus burden of treatment, the quality of life of the surviving patient and the parents' wishes, when making decisions regarding withholding or withdrawing care.
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Deficiency of multiple vitamins can be identified in alcoholic and malnourished patients. We report a patient with Wernicke encephalopathy, a B1 deficiency and pellagra, a niacin deficiency. A 61-year-old Japanese man presented with generalised weakness. ⋯ Multivitamin supplementations improved all the symptoms. Pellagra causes dementia, diarrhoea, or dermatitis, and can mimic non-specific erythaema in alcoholics. The differential diagnosis between pellagra and non-specific erythaema is important because of the treatability of pellagra by niacin supplementation.
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A 52-year-old man with a longstanding history of hypertriglyceridaemia (approximately 7 mmol/L (600 mg/dL)), unresponsive to treatment, presented to a lipid-specialty clinic. Additional triglyceride-lowering therapies were added with no effect. It was then noted that despite the apparent hypertriglyceridaemia, his serum sample was clear. ⋯ The falsely elevated triglyceride values in such individuals are a result of excess serum glycerol and clinical laboratories measuring glycerol to report triglyceride concentrations. After discontinuation or modification of the patient's primary triglyceride-lowering agents, the lipid panels and triglyceride values remained comparable to previous readings. Recognition of asymptomatic GKD is important to prevent unnecessary treatment and overestimated cardiovascular risk.