White and grey matter abnormalities in some neurometabolic disorders: a clinico-radiological correlation

Inborn errors of metabolism [IEM] are common throughout the Middle East, presumably because of the relatively high rates of consanguinity. Disorders of inborn errors of metabolism that affect the CNS are divided according to MRI picture into disorders involving grey or white matter or both. Only very few studies on inborn errors of metabolism have been done in Egypt. However, with the introduction of MRI and increasing awareness of the disease, more and more cases of metabolic diseases are being diagnosed. Many of these diseases if detected early can be cured and MRI might play a vital role in its early diagnosis. MRI has virtually replaced all other imaging modalities including CT in the evaluation of white matter diseases due to its excellent gray-white matter resolution and multiplanar imaging capability. The aim of this work is to identify the pattern of white and grey matter involvement in some neurometabolic diseases and to evaluate the role of MRI as an investigative modality in inborn errors of metabolism and to document its value in early diagnosis and hence management. This is a descriptive study done among 800 patients suspected of having an inborn error of metabolism and referred to the clinic of inherited metabolic disease at Cairo University Children Hospitals, at the centre of Social and Preventive Medicine. Only fourteen patients were found to have the diagnosis of metabolic disease and abnormal findings on MRI. Out of 14 cases, 11 were males [78.6%] while 3 [21.4%] were females. At presentation, the mean age +/- SD of the patients was 4.36 +/- 3.775 years, and their ages ranged from 9 months to 16 years. Four cases [28.5%] were diagnosed as Leigh disease, 4 cases [28.5%] as metachromatic leukodystrophy, 2 cases [14.2%] as Canavan disease, 1 [7.1%] as methylmalonic academia, 1 [7.1%] as Vander Knappe disease, 1 [7.1%] as mucolipidosis, and one [7.1%] as Wilson disease. Clinical presentation included positive consanguinity in 9 cases [64.3%], other sibs affected in 5 cases [35.7%]. Global developmental delay in 3 cases [21.4%], and developmental regression in 11 cases [78.6%]. Attacks of disturbed conscious level with metabolic acidosis were encountered in 5 cases [35.7%]. Seizures were encountered in 6 patients [42.9%] [four of them were generalized tonic clonic, one was multifocal clonic and one was hemifocal]. All types achieved good control on one or two antiepileptic drugs. Extrapyramidal symptoms were present in 5 cases [35.7%], and ataxia in 2 cases [14.3%]. On examination there was spasticity in 11 cases [78.5%], while only 3 patients [21.4%] were hypotonic. On measuring the skull circumference, 6 patients [42.9%] had microcephaly, 4 patients [28.5%] were macrocephalic and 4 cases had normal skull circumference. Fundus examination was done and revealed optic atrophy in 2 cases [14.3%]. MRI was a guide in reaching a proper diagnosis in these cases, definitive diagnosis was done by tandem mass spectrometry [TMS], enzymatic essay and skin or gingival biopsies according to each case. When properly used, MRI pattern recognition approach in conjunction with the other imaging tools can be very useful for separating the complex group of metabolic disorders into more manageable groups. Indeed, sometimes this approach allows a specific diagnosis to be made. Although the pattern of disease in MRI is not often specific, the distribution may suggest a differential diagnosis that may be pursued by increasingly specific enzyme analysis

Incidence and clinical predictors of left atrial appendage thrombosis risk markers in end stage renal disease patients on maintenance haemodialysis

The incidence of intracardiac thrombosis and its risk markers in haemodialysis patients has not been sludied in the Egyptian population. This study was designed to determine the incidence of left atrial appendage [LAA] thrombosis and its risk markers as well as its clinical predictors in patients on maintenance haemodialysis in Suez Canal area in the period from 2003-2004. Transoesphageal echocardiography [TEE] was performed in 55 haemodialysis patients, 34 [62%] were males, the mean age was 46 +/- 10 years with mean dialysis duration b8 +/- b months. Any potential candidate with current or past chronic or intermittent atria] fibrillation or with cardiovascular diseases was excluded from the study. LAA abnormalities were defined as the presence of LAA thrombus, spontaneous echo contrast [SEC], LAA emplying or filling Doppler velocities <25cm/s, or LAA area 5 cm[2] Nothrombi were found in the LAA, but SEC detected in 4 [7%] patients, LAA velocities <25cm/s in 12 [22%] palients, and LAA area >5cm2 in 15 [27%] patients. On multe-variate analysis; older age, hypertension, diabetes mellitus, cigarette smoking, low haematocrit <30%, and left venlridilar mass index [LVM1] >116gm/m2 were the only ilinical variables independently associated with LAA abnormalities predisposing to thrombosis. Patients on maintenance haemodialysis in Suez Canal area are at low risk for LAA thrombosis. However, I.AA abnormalities predisposing to thrombosis can still be detected and correlated with older age, hypertension, diabetes incllilus, cigarette smoking, low haematocrit, and increased LVMI>116gin/m2.

Predictors of multivessel coronary artery disease using dobutamine stress echocardiography

The detection of multivessel coronary artery disease [MVD] is of paramount importance to cardiologists as such group of patients carry a poor prognosis and benefit to a great extent from more aggressive treatment strategies. The value of Dobutamine stress echocardiography [DSE] has been evaluated in the diagnosis of coronary arty disease [CAD], but few studies have been performed to assess the predictors of MVD during this test. this study was designed to determine the clinical, electrocardiographic predictors of MVD during DSE. this study included 51 patients with suspected CAD who underwent clinically indicated coronary arteriography, with DSE performed within 8 weeks of the angiographic study. Different clinical, electrocardiographic and echocardiographic predictors of MVD were assessed using multivariate analysis. Diabetes mellitus [DM], hypertension [HTN], and dyslipideamia were the most prevalent risk factors among patients with MVD. Coronary angiography revealed that 17.5% of patients had normal or non-significant lesion, 39.4%had single vessel disease [SVD], 19.6% had two-vessel disease [2VD] while 23.5% had MVD. DSE had a sensitivity of 96% and 68% for MVD and SVD respectively while the specificity was 85% and 53% respectively. Multivariate analysis showed 5 variables to be independent predictors of multivessel CAD including: History of DM [p=0.031], history of previous myocardial infarction [MI] [p=0.013], electrocardiographic ST-T changes in more than one vascular territory [p=0.0001], segment wall motion [SWM] abnormalities in more than one vascular territory [p=0.008], and SWM score index more than 1.7 [p=0.010]. DSE is a reasonably sensitive and specific non-invasive tool for the diagnosis of CAD, particularly MVD. History of DM, history of previous MI, electrocardiographic ST-T changes in more than one vascular territory, SWN abnormalities in more than one vascular territory, and SWM score index more than 1.7 are all independent predictors of MVD

Primary antiphospholipid syndrome: a clinical and laboratory study of 20 Egyptian patients

A group of 20 primary antiphospholipid syndrome [PAPS] patients was enrolled in this study. They were studied for the presence of any organ complications. The clinical and serological features of these patients were analyzed by standard methods to estimate the incidence of various manifestations and complications in this sample. The study concluded that antiphospholipid syndrome [APS] is more prevalent than expected, and this lack of data is most probably due to either the lack of acquaintance with the disease or the lack of the specific laboratory tests in some clinics

preliminary study on the incidence of eimeria infection in guinea fowl and trials to its control

The results revealed high incidence of E. grenieri in guinea fowl allover one year 66.3% and highest rate were winter especially in the newly hatched keets. The isolated E. Grenieri oocysts were identified according to morphobiological criteria. They were ovoid 21. 75 x 15. 50 um with uniformly thick wall and micropyle was present. The sporulation time was 20 hours. The sporocysts were pear-shaped containing comma shaped sporozoites. The polar granules were present while the oocyst residium was absent. The trial of treatment with Baycox and Esb3 were found effective

Biological and histopathological studies on eimeria grenieri in guinea fowl

The results revealed the life cycle of E. grenieri in guinea fowl, the patent period was approximately 15 days, the trophozoite was detected at 48 hours post infection in the duodenal epithelial cells, the second generation schizont were seen in 60-72 hours after infection in the lower region of the jujenal villi, the last schizont generation were distruibuted mainly in the ileum epithelial lining and the gamont cycts were found in the cecal epithelium after 120 hours post infection