1/55. Aicardi-Goutieres syndrome: a genetic microangiopathy?Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.- - - - - - - - - - ranking = 1keywords = microangiopathy (Clic here for more details about this article) |
2/55. A strange complex of diffuse congenital cardiovascular disease and cardiomyopathy, with localised myocardial calcification.This unique case is of a man, followed clinically since infancy, who had a ventricular septal defect which closed spontaneously, a small arterial duct, and a minor degree of aortic coarctation, all without obvious symptoms. He later developed progressive cardiac failure which was attributed to some obscure form of congenital cardiomyopathy. He died at the age of 45 years. Necropsy showed a grossly abnormal arrangement of ventricular myocardial fascicles and bands, with absence of the papillary muscles causing tricuspid and mitral regurgitation. The various malformations are considered to be a gross example of a diffuse congenital cardiovascular disease complex, to the best of our knowledge previously undescribed.- - - - - - - - - - ranking = 0.32033820106008keywords = vascular disease (Clic here for more details about this article) |
3/55. pseudoxanthoma elasticum and calcinosis cutis.A 42-year-old white woman presented with clinical and histologic manifestations of both calcinosis cutis and pseudoxanthoma elasticum: discrete milia-like calcifications at the anterior aspect of the neck, a funduscopic examination with classic eye findings, peripheral vascular disease, and a mottled appearance of the skin at the axillae, groin, and lateral aspects of the neck. A younger sibling had similar skin lesions and deteriorating visual acuity. The patient was normocalcemic and normophosphatemic. This case may represent the coincidental occurrence of two rare entities in the same person or may be suggestive of a pattern of dystrophic calcification associated with pseudoxanthoma elasticum.- - - - - - - - - - ranking = 0.064067640212015keywords = vascular disease (Clic here for more details about this article) |
4/55. radiation-induced brain calcification: paradoxical high signal intensity in T1-weighted MR images.BACKGROUND: Irradiation to the central nervous system (CNS) in childhood is known to induce cerebral calcification after a latent period. Calcification has been generally found to show nil or a reduction in signal intensity in magnetic resonance (MR) images. However, we have studied three patients with radiation-induced brain calcification, who manifested increased signal intensity on T1-weighted MR images. METHOD: Three girls had each been diagnosed as having a suprasellar germ cell tumour and were treated with conventional fractionated radiotherapy in their childhood. In one case, chemotherapy was given prior to the CNS irradiation. FINDINGS: All three patients survived their disease, and a follow-up CT scan revealed calcification in the brain, which has shown an increased signal intensity in the T1-weighted images of MR. INTERPRETATION: Cerebral calcification may be presented as a high signal intensity in the T1-weighted MR images. This may be explained by a surface-relaxation effect by the calcium salt particle, precipitated in the brain due to radiation-induced mineralising microangiopathy.- - - - - - - - - - ranking = 0.16666666666667keywords = microangiopathy (Clic here for more details about this article) |
5/55. Detection of cardiac calcinosis in hemodialysis patients by whole-body scintigraphy with 99m-technetium methylene diphosphonate.A noninvasive method for the diagnosis of cardiac calcinosis, a life-threatening complication in hemodialysis patients with end-stage renal disease (ESRD), has not, as yet, been firmly established. We tested whether whole body scanning with 99m-technetium methylene diphosphonate (MDP) might visualize cardiac calcinosis. In 19 consecutive chronic hemodialysis ESRD patients (13 males and 6 females, aged 40-81, mean 63 /- 8 years) with cardiovascular disease [mitral annular calcinosis and/or calcified aortic valve (n = 4), hemodialysis cardiomyopathy (n = 1), coronary artery disease (n = 9) and peripheral artery atherosclerotic disease (n = 6)], MDP uptake in the heart was compared to that in 7 non-ESRD controls with hyperparathyroidism due to adenoma. Cardiac and lung field MDP uptake was confirmed in only 3 (16%) and 5 (26%) of the 19 ESRD subjects, respectively, but was absent in controls. Positive cardiac uptake was related to cardiac calcified complications (mobile intracardiac calcinosis, myocardial calcinosis and mitral annular calcification) and the duration of hemodialysis (p = 0.015). While it was statistically insignificant, subjects showing MDP uptake were elder and had higher serum Ca or Ca x P product and lower intact parathyroid hormone levels. These results suggest that cardiac calcinosis in ESRD patients can be detected noninvasively by myocardial scintigraphy with 99m-technetium MDP.- - - - - - - - - - ranking = 0.064067640212015keywords = vascular disease (Clic here for more details about this article) |
6/55. Dramatic worsening of vascular calcifications after kidney transplantation in spite of early parathyroidectomy.vascular calcification is a common feature in chronic dialysis patients, but their clinical significance is debated and the role of kidney transplantation (TP) in the natural history of their development has received scanty attention. We will describe a case of dramatic worsening of vascular calcifications during TP in a young patient in spite of early and successful parathyroidectomy (PTX), and will discuss other causes which might be putatively linked to vascular damage during the time of TP. A 37-year-old man on regular dialytic treatment (RDT) for 11 years, received his first cadaveric transplantation in January 1993. He underwent PTX 6 months after TP because of the lack of decreasing in parathyroid hormone values despite normal graft function. Although PTX was effective, a dramatic worsening was evident in large as well as in medium and small-sized arteries during the following three years of TP. In February 1997, few months after starting dialysis again because of the recurrence of his primary membranoproliferative glomerulonephritis (MPGN), the patient experienced myocardial infarction followed by aorto-coronary bypass (right coronary artery and anterior descending coronary artery) and leg "claudicatio". Though a role for parathyroid hormone in vascular disease has been commonly accepted, the case here reported clearly shows that blunting parathyroid gland activity may be unable to avoid the worsening of a process of vascular disease during the time of TP. Many other factors--linked to the time of TP--may be involved in vascular diseases, such as nephrotic syndrome, dyslipidemia, hypertension and drugs. In the case of our patient, a clear cut risk factor for his progressive atherosclerosis can be designated hyperlipidema and other disturbancies secondary to a nephrotic syndrome due to relapse of MPGN, together with persistent hypertension. This is the first case report in the English literature which clearly demonstrates that TP may add fuel to the fire of vascular disease also in young people and even in the absence of parathyroid hyperactivity, perhaps on the basis of a favorable genetic background. Furthermore, the history of our patient demonstrates that vascular calcifcation heralds major cardiovascular diseases.- - - - - - - - - - ranking = 0.32033820106008keywords = vascular disease (Clic here for more details about this article) |
7/55. Idiopathic calcification of the seminal vesicles: a rare cause for prostate cancer overstaging.Calcification of the seminal vesicles is a rare phenomenon. We present 2 cases in whom calcification of the seminal vesicles led to preoperative overstaging of prostate cancer. Although idiopathic calcifications are extremely rare, calcifications appear more frequently in diabetic patients. Therefore, knowledge of these formations is essential to prevent overstaging, namely infiltration of the seminal vesicles.- - - - - - - - - - ranking = 0.060539797020551keywords = diabetic (Clic here for more details about this article) |
8/55. Intracranial ossifications and microangiopathy at 8 Tesla MRI.Clinical evaluation and MR imaging of microangiopathy associated with hypertension is limited. We describe a case that illustrates sensitivity of MRI at 8 Tesla for imaging of microvasculature, iron, calcium deposits and silent white matter lesions (WML). A 60-year-old black hypertensive woman was evaluated for numbness in the face and extremities. MRI at 1.5 Tesla was unrevealing.MRI at 8 Tesla: Axial and sagittal Gradient Echo images were obtained with an 8T/80 cm human scanner and showed: 1) Large areas of signal voids due to ossifications and fat deposits within the falx. 2) Obstructed small vessels in the periventricular regions and distended cortical veins. 3) Numerous small WML, suggestive of mini-infarcts (<1 cm) and microhemorrhages. 4) Intracranial calcifications in the falx, tentorium, basal ganglia and chorioid plexus that were confirmed by CT scan. Atherosclerotic plaque in right carotid artery and reduced vasomotor reserve in middle cerebral arteries, documented by ultrasound, indicated large and small vessel disease.Conclusions: MRI at 8 Tesla improves visualization of microangiopathy, ossifications and iron deposits due to enhanced magnetic susceptibility at ultra high magnetic field.- - - - - - - - - - ranking = 1keywords = microangiopathy (Clic here for more details about this article) |
9/55. Cerebral, myocardial and cutaneous ischemic necrosis associated with calcific emboli from aortic and mitral valve calcification in a patient with end-stage renal disease.We report the case of a 57-year-old diabetic male with chronic renal failure who developed secondary hyperparathyroidism and calcification of mitral and aortic valves and interatrial septum. Multiple ischemic lesions developed in the skin of hands, feet and penis, and in the brain, and these were presumed to be due to septic emboli from cardiac valvular infective endocarditis. Multiple blood cultures were negative, however, and despite antibiotic therapy the patient expired. autopsy (limited to trunk) demonstrated multiple calcific emboli in the heart and spleen, apparently derived from the prominent calcific deformities in the aortic and mitral valves. These were associated with acute and organizing myocardial infarcts and acute splenic infarcts, suggesting that the multiple ischemic lesions in the brain were also due to calcific emboli. A possible contributory component of infective endocarditis, however, was indicated by postmortem cultures of aortic and mitral valves positive for enterococcus faecium. Calcific embolism is a rarely recognized but potentially lethal complication of end-stage renal disease, and the clinical diagnosis and the preventive therapeutic options for the control of the product of calcium and phosphate and/or parathyroidectomy should be considered.- - - - - - - - - - ranking = 0.060539797020551keywords = diabetic (Clic here for more details about this article) |
10/55. Monckeberg's sclerosis: an unusual presentation--a case report.Calcification of the media of peripheral arteries is referred to as Monckeberg's sclerosis and occurs commonly in aged individuals. However, it also occurs in younger patients with diabetes mellitus and chronic renal failure. In diabetic patients, medial calcification appears to be a strong independent predictor of cardiovascular mortality. In this report, we have presented a 20 year-old-patient with extensive peripheral artery calcification. The etiology of calcification was not identified. It has been suggested that this was an unusual form of Monckeberg's sclerosis.- - - - - - - - - - ranking = 0.060539797020551keywords = diabetic (Clic here for more details about this article) |
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