Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.

A young woman presented with general malaise in relation to the metabolic condition ornithine transcarbamylase deficiency. Her ammonia level had risen to 229 µmol/L (normal range 0-59 µmol/L). She was treated using her emergency pack of intravenous medicines and made a complete response. We briefly discuss the need to make an urgent diagnosis, the 'mechanism' for checking serum ammonia levels and therapies.

An unusually high troponin I result in association with Legionella infection.

A 77-year-old man presented himself with shortness of breath that was initially felt to be due to an acute coronary event, largely due to a very elevated troponin I result and his medical history. He subsequently showed evidence to suggest a significant pneumonia. The most likely candidate organism responsible, from the history and test results, appeared to be Legionella. We present the case for a spuriously and extremely elevated troponin I result, being at least in part due the production of heterophil antibodies by Legionella.

Melioidosis in a returning traveller.

A 66-year-old man returned to the UK from Thailand with a 2-week history of new confusion, hallucinations, fever with rigours and productive cough. He had not responded to (unspecified) antibiotic treatment in Thailand. On examination he was afebrile, with an abbreviated mental test score of 8/10 and no other findings on systemic examination. He was treated with ceftriaxone in response to discovery of a Gram-negative organism in blood. This was converted to meropenem on the clinical suspicion of our microbiologist, on the basis of a history of contact with surface water in the Far East. A blood culture subsequently confirmed Burkholderia pseudomallei. His condition remained stable for approximately 4 days, but then deteriorated over the course of the next 2 weeks with pneumonia and subsequent formation of disseminated abscesses. Treatment was withdrawn as his condition deteriorated to the point at which survival was deemed impossible and he subsequently died.

Senile cardiac amyloidosis: an underappreciated cause of heart failure.

This case presents a patient with biopsy-proven, wild-type transthyretin (TTR) senile amyloidosis. The case was that of a man in his early 70s who presented with gradually progressive symptoms and signs of heart failure. The recent history included an episode of severe pancreatitis secondary to cholelithiasis and subsequently (and incidentally) noted hepatomegaly and marked ascites. Further evaluation of the aetiology of the heart failure, through echocardiography, coronary angiography and endomyocardial biopsy, led to an exact diagnosis of SSA. The patient is being treated with conventional heart failure medications while consideration is given to the use of diflusinal as an antiamyloidogenic small molecular stabiliser of TTR. Monitoring and further management advice are being coordinated by the National Amyloidosis Centre.

Typhoid fever, complicated by myocarditis, in a traveller returning to the UK.

A 25-year-old male returning traveller presented with sudden onset chest pain. An ECG showed infero-lateral ischaemic changes, with an elevated troponin and inflammatory markers. An echocardiogram showed a normal size left ventricle, dynamic systolic function, structurally normal valves and no regional wall motion abnormality. Angiography revealed normal coronary arteries. A diagnosis of myocarditis was made. Five days later, he developed a significant pyrexia and diarrhoea. Salmonella typhi was isolated from blood cultures. The fever and symptoms resolved after 2 weeks of an intravenous third generation cephalosporin and the patient was discharged.

Cardiac tumour masquerades as mid-life (menopause) event.

Atrial myxomas are the most common primary cardiac tumours encountered. Their detection may be incidental, owing to embolic events, intracardiac obstructive features or in some cases, non-specific constitutional symptoms. We describe a middle-aged woman attributing constitutional symptoms to menopause, but later determined to be due to an atrial myxoma.

Stroke mimic: an interesting case of repetitive conversion disorder.

Stroke mimics can account for up to 5% of all acute stroke presentations.They are more frequent in those under 50 years of age, with some estimates of prevalence as high as 21% of acute stroke presentations in this age group. We describe a case of repetitive stroke mimic episodes, the recognised associated precipitants, diagnostic clues and management.

An unusual cause of a pulmonary opacity in a visitor to the UK.

A 64-year-old man, resident in Arizona for 3 years, presented with a week-long history of a dry cough and 'flu-like symptoms'. He had recently been renovating his house. A chest radiograph showed a left mid-zone opacity. Investigations for lung cancer were performed and he underwent CT-guided biopsy of the lesion. A coccidioidal fungus known to cause 'Valley Fever' was isolated. Treatment with fluconazole led to a complete recovery. This fungal infection is endemic in parts of the USA and Mexico and usually presents with respiratory symptoms. Additional complications include disseminated disease and meningitis.

Undiagnosed phaeochromocytoma masquerading as eclampsia.

The authors report the case of a previously well 34-year-old woman presenting with a hypertensive crises and a grand-mal seizure following elective caesarean section. Initial treatment of extreme hypertension, of a presumed eclamptic aetiology, with magnesium and labetalol was complicated by intermittent profound hypotensive episodes. This was accompanied by severe biventricular failure and fluctuating systemic vascular resistance. Abdominal ultrasound revealed a left suprarenal mass. A diagnosis of phaeochromocytoma was confirmed on abdominal CT and urinary assays. The patient was stabilised with α and ß blockade, was successfully extubated and subsequently had the tumour surgically excised. The cardiac function returned to normal on echocardiography and she has made a complete recovery.

Massive calcium channel blocker overdose: intravenous insulin and glucose as a therapy.

We describe a case of massive overdosage with cardiac medications that proved resistant to conventional support, including fluid replacement, inotropes, mechanical ventilation, cardiac pacing and haemofiltration. The use of a high-dose insulin and glucose infusion proved to be beneficial in the acute management although the patient has been left with significant impairment of cardiac function.

Development and potential role of type-2 sodium-glucose transporter inhibitors for management of type 2 diabetes.

There is a recognized need for new treatment options for type 2 diabetes mellitus (T2DM). Recovery of glucose from the glomerular filtrate represents an important mechanism in maintaining glucose homeostasis and represents a novel target for the management of T2DM. Recovery of glucose from the glomerular filtrate is executed principally by the type 2 sodium-glucose cotransporter (SGLT2). Inhibition of SGLT2 promotes glucose excretion and normalizes glycemia in animal models. First reports of specifically designed SGLT2 inhibitors began to appear in the second half of the 1990s. Several candidate SGLT2 inhibitors are currently under development, with four in the later stages of clinical testing. The safety profile of SGLT2 inhibitors is expected to be good, as their target is a highly specific membrane transporter expressed almost exclusively within the renal tubules. One safety concern is that of glycosuria, which could predispose patients to increased urinary tract infections. So far the reported safety profile of SGLT2 inhibitors in clinical studies appears to confirm that the class is well tolerated. Where SGLT2 inhibitors will fit in the current cascade of treatments for T2DM has yet to be established. The expected favorable safety profile and insulin-independent mechanism of action appear to support their use in combination with other antidiabetic drugs. Promotion of glucose excretion introduces the opportunity to clear calories (80-90 g [300-400 calories] of glucose per day) in patients that are generally overweight, and is expected to work synergistically with weight reduction programs. Experience will most likely lead to better understanding of which patients are likely to respond best to SGLT2 inhibitors, and under what circumstances.

The dilemma of an incidental preoperative electrocardiogram showing a Brugada phenotype.

A Brugada pattern on routine electrocardiography is one of several features that can indicate the potential for life threatening rhythm disturbances. The authors describe such a scenario in an asymptomatic 38-year-old woman who required significant surgery under anaesthesia. The diagnosis and possible management routes are outlined with an emphasis on the incumbent psychosocial and familial issues that are encountered. The patient underwent her surgery and was then further investigated to 'prove' the diagnosis. Ultimately, the patient declined further investigations and interventions. This case highlights the dilemma faced by anaesthetists and clinicians, not to mention the patients and their family when a Brugada phenotype is identified on a routine ECG. Clinicians should seek an expert opinion but ultimately, as in this case, the patient should be positioned to make an informed decision on what route to follow.

Two cases of massive mitral annular calcification mimicking left atrial neoplasms.

The authors describe two cases of massive mitral annular calcification, initially picked up on echocardiography and suspected of being neoplastic. Subsequent evaluation by CT scanning confirmed the location, aetiology, structure and diagnosis. Both cases demonstrated large masses, with calcification of varying density. This is likely explained by the presence of the previously reported amorphous caseous material demonstrated to be present within such mass structures. Such a feature is described as caseous degeneration. Both patients described have been managed conservatively with medical therapy, predominantly due to their age and general frailty.

Streptococcus sanguis endocarditis associated with colonic carcinoma.

Infective endocarditis caused by Streptococcus bovis is known to be associated with colorectal malignancy. Other less common streptococci, specifically Streptococcus sanguis, can be similarly associated with gastrointestinal carcinoma. We present a case of disseminated colorectal carcinoma occurring after a confirmed S sanguis endocarditis, that required mitral valve surgery. There may be a need for gastrointestinal surveillance in patients presenting with bacteraemia caused by less common streptococci.

Electrocardiograph abnormalities revealed during laparoscopy.

This brief case presents a well patient in whom an electrocardiograph abnormality consistent with an accessory pathway was found during a routine procedure. We present the electrocardiographs, explain the underlying condition, and consider why the abnormality was revealed in this manner.

Old men and thickened hearts.

The case of a patient with confirmed amyloid, initially believed to be light chain (AL) type, whose diagnosis was clouded by an atypical gastrointestinal tract system presentation and a concomitant haematological condition, is presented. Duodenal biopsy samples subsequently stained positive for transthyretin and the diagnosis was revised to senile systemic amyloidosis. The patient was managed medically and remains alive more than 2 years after the diagnosis was formally established. Differentiating the systemic amyloidoses from one another can be challenging as the features often overlap and the most sensitive tests usually require a tertiary referral. Ultimately, cases usually require histological verification from tissue biopsies. Helpful pointers can be obtained with a careful history and examination in combination with some routinely available diagnostic tests.

Post-traumatic dizziness.

Following an episode of syncope, a 42-year-old woman was referred to exclude a cardiac cause. This primary event was determined to be a straightforward case of vasovagal syncope, resulting in mild head trauma. Following this, the patient was left with symptoms of dizziness and a subjective "muzzy" sensation. Initially assumed to be a form of "post-concussive symptom", she was referred to a neurologist who employed neurovestibular manoeuvres to both determine the cause of these symptoms and satisfactorily resolve them.

Hypocalcaemia, long QT interval and atrial arrhythmias.

Calcium has diverse roles in neuromuscular mechanisms. Within the cardiovascular system, hypocalcaemia is known to both impair myocardial contractility and prolong the QT interval, predisposing to ventricular arrhythmias. We present a case of chronic hypocalcaemia with prolonged QT interval associated with an atrial arrhythmia. Recent studies of congenital long QT syndrome suggest there is also a predisposition to atrial arrhythmias. Our case raises the hypothesis that acquired causes of long QT cause similar repolarisation abnormalities that predispose to atrial arrhythmias.