Wilson's disease: early diagnostic value of serum ceruloplasmin level to prevent chronic psychosis - case report

Wilson disease is a rare autosomal recessive hereditary disorder of copper metabolism. It is characterized by excessive deposition of copper in the liver, brain, and other tissues due to mutation in the Wilson disease protein [ATP7B] gene which leads to impaired copper metabolism. We report a case of eighteen-year-old male patient, who presented at the Out-Patient Department of Medicine Unit 1, Abbasi Shaheed Hospital. He presented with history of ataxia for 2 years along with abnormal spastic hand movements and difficulty in speech for the same time period. These symptoms remained static till 12 months but later progressed with multiple episodes of fall after which he was bedridden. On further investigation, eye examination on slit lamp showed Kayser-Fleischer ring, low total leukocyte count and ceruloplasmin level of 0.03 g/L. Ultrasound results showed hyperechoic hepatic parenchyma with no mass or abscess. This case is notable to emphasize the diagnostic value of ceruloplasmin for early diagnosis and to prevent chronic psychosis along with neurological symptoms. We aim to review the clinical presentation, diagnostic modalities and current treatment and also to highlight the treatment trials underway for Wilsons disease in adult patients

Portal vein diameter in the diagnosis of portal hypertension confirmed on serum-ascites albumin concentration gradient in patients with decompensated chronic liver disease

Objective: In patients with chronic liver disease, determine the accuracy of portal vein diameter in the diagnosis of portal hypertension confirmed on Serum-Ascites Albumin Concentration Gradient

Study Design: Cross sectional study

Place and Duration of Study: This study was conducted in the Department of Medicine at AbbasiShaheed Hospital, Karachi for a period of six months from January to June 2012

Materials and Methods: Seventy patients with decompensated CLD were included in this study. The routine testing of ascitic fluid was included total protein, albumin and cell count. All patients underwent ultrasonography of abdomen

Results: The average age of the patients was 48.97 +/- 7.52 years. 47[67.1%] were male and 23[32.9%] were female

In the diagnosis of portal hypertension confirmed by serum ascites albumin of decompensated chronic liver disease 95.7% positive accuracy of portal vein diameter was found

Conclusion: Our study of small predominantly male sample found a very high positive accuracy of portal vein diameter in determining portal hypertension. The results are similar to previous researches that have also shown a higher accuracy rates but slightly lower than our study

Frequency of peripheral arterial disease in diabetic patients by ankle brachial index

To determine the frequency of peripheral artery disease [PAD] in diabetic patients by assessing ankle brachial index [ABI]. Cross-sectional study. This study was conducted in the Department of Medicine, Abbasi Shaheed Hospital for a period of six month from September 2011 to March 2012. All type 2 diabetics of more than two years disease duration, on treatment, of either gender, were included between 41 years to 70 years of ages. Peripheral artery disease was assessed by ankle brachial index [ABI]. Frequency and percentages were presented for gender, smoking status, family history of type 2 diabetes and PAD. Mean and standard deviation was presented for age of patients, duration of diabetes and smoking status. Chi square test was used to compare relative frequencies. A total of 125 patients were included with a mean age of 57.10 +/- 8.77 years. 68 [54.4%] were female. Mean duration of diabetes was 4.62 +/- 2.21 years. PAD was found in 74 [59.2%] while 51 [40.8%] patients were free from PAD. A high frequency of PAD was detected in the diabetic subjects with a female pre-ponderance, with statistically significant association with increasing age, hypertension and duration of diabetes

Integrated care of modifiable risk factors in patients with ischemic stroke can improve the reproductivity of state

To identify modifiable risk factors in patient with ischemic stroke in tertiary care hospital of Karachi. Cross sectional study. This study was conducted in Medical Unit-I, II, III, Abbasi Shaheed Hospital Karachi from 21[st] September 2006 - 21[st] March 2007. All patients admitted during six months period, who met the inclusion criteria of recent ischemic stroke, were analyzed according to questionnaire for six selected variable i.e hypertension, diabetes mellitus, cigarette smoking, obesity, hyperlipidemia and cardiac disorder. Average age of patient was 65. 57 years. Hypertension involved in 76.6%, diabetes mellitus 53%, cigarette smoking in 31.7%, 13.3% patients were obese , hyperlipimedia found in 48.3% patients and cardiac disorder in 5%patients. Combination of hypertension and smoking was found in 38.46%, combination of hypertension, diabetes and hyperlipidemia in 44.23% and combination of diabetes, obesity and hyperlipidemia in 17.31% patients. Among the six risk factors analyzed, data revealed a significant effect of hypertension. Other contributing risk factors in order of frequency were diabetes, hyperlipidemia, smoking, obesity and cardiac disorders. Combinations of risk factors i.e hypertension and smoking, or combination of hypertension, diabetes and hyperlipidemia, or combination of diabetes, obesity and hyperlipidemia were the commonly occurring comorbidities in patients presented with ischemic stroke

Common carotid artery intima-media thickness in patients with ischaemic and haemorrhagic stroke

An increase in the intima-media thickness of the common carotid after [CCA-IMT] is generally considered as an early marker of atherosclerosis and has been associated with a higher risk of stroke and myocardial infarction. Cross-sectional Study. This study was conducted in Department of Medicine at Karachi Medical and Dental College and Abbasi Shaheed Hospital from June 2011 to December 2011. We determined cross-sectionally the diagnostic ability of CCA-IMT to distinguish between brain infarction and intracerebral haemorrhage. Total 150 patients aged >40 years of both sexes with hemorrhagic and ischaemic stroke were included, while patients with history of endartectomy, head injury, space occupying lesion and on anticoagulation were excluded. All information was recorded on proforma. Thickness of common carotid artery of >/= 0.5 mm was considered significant. Analysis was performed through SPSS-10.0. Frequencies and percentages were computed to present categorical variables including stroke type and wall thickness of common carotid artery in terms of [ 0.5 mm]. Chi-square test was applied to see association of increased CCA-IMT with stroke type. Statistical significance was taken at p < 0.05. Among 150 patients of stroke, 13 [8.7%] patients of left and 8 [5.3%] patients of right had increased CCA-IMT. The CCA-IMT was significantly higher in patients with ischemic stroke patients [p=0.001]. The present results demonstrate the possible predictive power of non-invasive measure meant of CCA-IMT with respect to brain infarction versus intracerebral hemorrhage and deserve further investigation. Despite high prevalence of hypertension in patients with haemorrhagic stroke, increased CCA-IMT which is considered as an early marker of atherosclerosis is strongly related to ischaemic stroke than haemorrhagic stroke

Fahrs disease: a young girl presenting with fits

Fahr's disease refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We describe a 28 year's old unmarried girl who presented with fits, anxiety, and panic attacks. She had bilateral symmetrical intracranial calcification. She was proved to have hypoparathyroidism and pleural tuberculosis