Internal medicine journal
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Internal medicine journal · Jul 2015
Case ReportsGlycogenic hepatopathy is an under-recognised cause of hepatomegaly and elevated liver transaminases in type 1 diabetes mellitus.
Glycogenic hepatopathy (GH) is an under-recognised complication of type 1 diabetes mellitus (T1DM) not controlled to target resulting in hepatomegaly and elevated liver transaminases. We report the case of a 19-year-old man with T1DM not controlled to target who presented with abdominal pain, hepatomegaly and deranged liver transaminases. He was subsequently diagnosed with GH on liver biopsy, with the mainstay of treatment being reduction in caloric intake and insulin.
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Internal medicine journal · Jul 2015
Screening whole spine magnetic resonance imaging in multiple myeloma.
Magnetic resonance imaging (MRI) is the most sensitive method for detecting focal spinal disease (FSD) in multiple myeloma (MM). It is unclear whether whole spine MRI (WS-MRI) should be employed as a screening test at diagnosis of MM. ⋯ WS-MRI in patients without a guideline indication did not detect any lesions that threatened the spinal cord. WS-MRI is essential in those with guideline indications. WS-MRI is of benefit to patients with smouldering myeloma where documentation of lesions not seen on plain film will result in treatment rather than observation.
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Internal medicine journal · Jun 2015
Case ReportsNovel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p. ⋯ This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p. Cys326 in SLC40A1 gene function.
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Internal medicine journal · Jun 2015
Prevalence of incidental pulmonary nodules on computed tomography of the thorax in trauma patients.
Lung cancer is the third leading cause of death in high-income countries. Early detection leads to improved clinical outcomes, with evidence showing that lung cancer screening reduces lung cancer mortality. Knowledge of the population prevalence of pulmonary nodules affects the efficacy and cost-effectiveness of a local screening programme. ⋯ Incidental pulmonary nodules are common in the general population. This has implications for possible lung cancer screening recommendations in the Australian population. Referral and/or review systems are essential to ensure adequate follow up of incidental findings, as it is likely some patients are not receiving adequate follow up at present.
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Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-radiological syndrome characterised by severe thunderclap headaches with or without other neurological symptoms and multifocal constriction of cerebral arteries that usually resolves spontaneously within 3 months. Most patients recover completely, but up to 10% have a permanent neurological disability and some even die. Previously RCVS has been described in many clinical contexts and under different names with the term RCVS first being suggested in 2007 to unify the group. ⋯ It is believed to have a similar pathophysiological mechanism to the posterior reversible encephalopathy syndrome (PRES), and both can occur in similar clinical contexts and are frequently associated. Treatment options include calcium channel antagonists. RCVS occurs in a broad range of clinical situations making it an increasingly recognised condition about which doctors in various specialties need to be aware.