Cardiac metastasis from a bowel malignancy seldom occurs and there is a limited number of case reports published on this subject. Although colorectal cancer is the third commonest malignancy in Malaysia, the incidence of cardiac metastasis has never been reported. We report a case of an elderly man with recently diagnosed adenocarcinoma of the sigmoid colon, who presented with congestive cardiac failure secondary to mechanical obstruction by a right atrial mass. The intractable shock led to his sudden death before any intervention could be planned. If an intra-cavity cardiac mass is detected in a patient with an underlying metastatic malignancy, cardiac metastasis should be suspected. However, primary cardiac tumour or thrombus could also be the differential diagnosis. In our case, the definitive cardiac pathology remained unsolved as an autopsy was refused.
A 15 year-old adolescent was referred with 2 month history of worsening of breathlessness and haemoptysis. He also reported constitutional symptoms of fever, poor appetite and weight loss. The chest roentgenogram showed a massive right pleural effusion with apparent cardiomegaly. The cardiac silhouette over the right heart border was obliterated and the mediastinum was widened. Computed tomogram of the thorax showed a bulky heterogeneous mass in the right lung with extension to the heart. Subsequent CT guided lung biopsy revealed Primitive Neuroectodermal tumour (PNET). Here, we illustrate the clinical course of an aggressive pulmonary PNET with lethal cardiac metastasis.
Bacillus cereus endocarditis is rare. It has been implicated in immunocompromised individuals, especially in intravenous drug users as well as in those with a cardiac prosthesis. The patient was a 31-year-old ex-intravenous drug addict with a past history of staphylococcal pulmonary valve endocarditis, who presented with symptoms of decompensated cardiac failure. Echocardiography showed severe aortic regurgitation with an oscillating vegetation seen on the right coronary cusp of the aortic valve. The blood cultures grew Bacillus cereus. We report this as a rare case of Bacillus cereus endocarditis affecting a native aortic valve.
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare adrenal tumour causing corticotrophin-independent Cushing's syndrome. It occurs mainly in children and young adults. The histological examination is characterised by small pigmented micronodules on the adrenal cortex. The diagnosis is most often seen in patients with Carney Complex, but it can also occur in isolation. We report a case of Carney Complex that was referred for adrenalectomy. The procedure was uneventful and the patient was well at discharge. The adrenal pathology showed numerous black nodules measuring less than 2mm in diameter. This feature was pathognomonic of primary pigmented nodular adrenocortical disease.
Solitary intra-cardiac cavity tuberculoma is extremely rare and often only diagnosed during a post-mortem. We report a case of right atrial tuberculoma causing right atrial outflow tract obstruction in an immune-compromised man. The diagnosis of cardiac tuberculoma was made through the detection of mycobacterium tuberculosis DNA by tuberculosis-polymerase chain reaction in the pericardial fluid. The patient succumbed five days after admission but an autopsy was refused by his family.
Cerebral angioinvasive aspergillosis is a rare manifestation of disseminated aspergillosis which may result in stroke in immunocompromised individuals. Reports of such disease in patients with diabetes mellitus are rare. We describe a 45-year-old man with diabetes mellitus who presented with a three-day history of right-sided limb weakness and aphasia. Cerebral computed tomography showed features of an acute infarct involving the left anterior and middle cerebral arteries. He was initially treated for an acute ischaemic stroke. Further history revealed that he was investigated for a growth in the sphenoid sinus two months earlier. Culture of the biopsied material from the sphenoid sinus grew Aspergillus fumigatus. Magnetic resonance imaging showed an extension of the growth to the brain, causing the acute ischaemic stroke. He was subsequently diagnosed with angioinvasive cerebral aspergillosis and was commenced on intravenous amphotericin B. Unfortunately, he succumbed to his illness despite treatment.
Brain edema in patients with hypertensive encephalopathy frequently affects the parietooccipital white matter. Hypertensive encephalopathy is thus included as a differential diagnosis in reversible posterior leukoencephalopathy syndrome. Diffuse white matter involvement rarely occurs. We report a 41-year old woman with hypertensive encephalopathy with diffuse and non-enhancing white matter hyper-intensities throughout the whole brain on magnetic resonance imaging (MRI). These hyperintensities spared the grey matter on T2-weighted and FLAIR sequence. These unusual finding on brain MRI was attributed to severe vasogenic cerebral edema resulting from accelerated hypertension.
Bell's palsy is a benign lower motor neuron facial nerve disorder. It is almost always unilateral. We report a 20-year-old nulliparous woman with five episodes of recurrent Bell's palsy. A review of recent medical literature revealed a paucity of case reports involving an individual with five episodes of recurrent Bell's palsy, with none found in Asian neurology medical literature. Despite the multiple episodes of Bell's palsy recurrences, the patient did not suffer much neurological sequelae from the disease.
Genetic polymorphisms of CYP2C9 among different populations in different geographical regions could be different. CYP2C9 has been reported to be the enzyme responsible for the metabolism of many drugs, including warfarin and other drugs with a narrow therapeutic index. Realising the importance of inter-individual differences in the genetic profile in determining the outcome of a drug therapy, this study was conducted to explore the types and frequencies of CYP2C9 alleles in healthy and warfarin-treated Malays and Chinese, the two major ethnic groups in Malaysia. We aimed to evaluate the prevalence of the types and frequencies of common CYP2C9 alleles (*1, *2, *3 and *4) among the healthy unrelated individuals and diseased patients prescribed with warfarin.
Testing for cytochrome P450-2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 (VKORC1) variant alleles is recommended by the FDA for dosing of warfarin. However, dose prediction models derived from data obtained in one population may not be applicable to another. We therefore studied the impact of genetic polymorphisms of CYP2C9 and VKORC1 on warfarin dose requirement in Malaysia.
CYP2D6 plays a major role in the metabolism of tamoxifen, and polymorphism of P-glycoprotein has been associated with resistance of many drug therapies. This study investigates the clinical impact of genetic variants of CYP2D6 and ABCB1 in breast cancer patients treated with tamoxifen. Blood samples from 95 breast cancer patients treated with tamoxifen were collected and genotyped for CYP2D6 and ABCB1 variants using allele-specific PCR method. Recurrence risks were calculated using Kaplan-Meier analysis and compared using the log-rank test. Patients carrying CYP2D6*10/*10 and heterozygous null allele (IM) showed higher risks of developing recurrence and metastasis (OR 13.14; 95% CI 1.57-109.94; P = 0.004) than patients with CYP2D6*1/*1 and *1/*10 genotypes. Patients with homozygous CC genotypes of ABCB1 C3435T showed a shorter time to recurrence. Patients who were CYP2D6 IM and homozygous CC genotype of C3435T have statistically significant higher risks of recurrence (P = 0.002). Similarly, median time to recurrence in these patients was only 12 months (95% CI = 0.79-23.2) compared to those without this combination which was 48 months (95% CI = 14.7-81.2). Patients with CYP2D6 IM and homozygous CC genotype of ABCB1 C3435T have shorter times to recurrence. The results confirmed the findings of previous studies and support FDA recommendation to perform pre-genotyping in patients before the choice of therapy is determined in breast cancer patients.