1/90. A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
2/90. Successful treatment of normeperidine neurotoxicity by hemodialysis.Normeperidine, a major metabolite of meperidine, is half as potent as meperidine as an analgesic but two to three times more potent as a convulsant. Renal failure significantly increases the plasma half-life of normeperidine. The intensity of the central nervous system excitation is highly correlated with the plasma concentration of normeperidine. Moreover, normeperidine toxicity is not reversed by naloxone, which may exacerbate it. We report a patient with end-stage renal disease undergoing maintenance continuous cycler peritoneal dialysis who had been receiving meperidine for pain control. The patient subsequently developed myoclonic contractions and a grand mal seizure. The patient was successfully treated with hemodialysis (using an F8 dialyzer) for presumed normeperidine-induced seizure. During hemodialysis, normeperidine average blood clearance was 73 mL/min, average plasma clearance was 50 mL/min, and average percentage of plasma extraction was 24%. There also was a 26% reduction in plasma concentration of normeperidine over 3 hours of hemodialysis. In conclusion, our findings suggest that hemodialysis may be used effectively for treating patients with suspected normeperidine-induced neurotoxicity.- - - - - - - - - - ranking = 0.86744253540432keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/90. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.- - - - - - - - - - ranking = 0.13255746459568keywords = brain (Clic here for more details about this article) |
4/90. Subcutaneous nodules attributed to nocardiosis in a renal transplant recipient on tacrolimus therapy.We report a renal transplant patient who suffered from disseminated nocardiosis after empirical tacrolimus rescue therapy for chronic allograft rejection. The nocardiosis presented initially as only mildly tender subcutaneous calf nodules without any other signs of inflammation nor constitutional upset, which later spread to the lung and brain causing bronchopneumonia and brain abscesses. The risk factors for nocardial infection in our patient include the use of potent immunosuppressive agents such as tacrolimus, poorly controlled diabetes mellitus and kidney dysfunction. She responded well to combination antibiotic therapy comprising parenteral meropenem, cefotaxime and oral minocycline. We conclude that in transplant recipients, especially those receiving newer and more potent immunosuppressive agents like tacrolimus, nocardial infection can present as apparently 'cold' subcutaneous nodules without any systemic upset. An associated brain lesion should be excluded even in patients without neurological symptoms.- - - - - - - - - - ranking = 0.39767239378705keywords = brain (Clic here for more details about this article) |
5/90. central nervous system involvement in a child with hemolytic uremic syndrome.We report a 20-month-old girl with postdiarrheal (shiga toxin) hemolytic uremic syndrome and severe encephalopathy. Magnetic resonance (MR) images were obtained in the acute phase of the disease and after 10 months. The first MR images showed widespread high signal intensity on T2-weighted and low signal intensity on T1-weighted images, in deep and subcortical white matter; the splenium of the corpus callosum was also involved, as well as cerebellar hemispheres. Neurological symptoms and signs gradually disappeared within 35 days. Follow-up MR imaging showed almost complete resolution of the previous findings, and the patient recovered without central nervous system impairment. The neurological lesions were probably due to hypoxia, although several other mechanisms could be involved, such as metabolic derangements and the action of shiga toxin. In spite of the dramatic clinical manifestations, we observed a good outcome, indicating that patients with similar lesions do not necessarily have a poor prognosis.- - - - - - - - - - ranking = 1.691231787364keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/90. carbon disulfide nephropathy.A 45-year-old nondiabetic man presented with features resembling diabetic triopathy. He worked in a rayon manufacturing plant and was exposed to toxic levels of carbon disulfide (CS(2)). Clinical abnormalities included peripheral and central nervous system abnormalities as well as retinopathy, dyslipidemia, cardiovascular disease, and nephrotic syndrome. He later developed focal sclerosing glomerulonephritis. The latter has not previously been described in cases of CS(2) exposure. Terminally, he developed end-stage renal disease and progressive dementia, both of which were thought to be consequences of CS(2) exposure earlier in life.- - - - - - - - - - ranking = 0.86744253540432keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/90. Reversible encephalopathy associated with tacrolimus in pediatric renal transplants.Neurological complications post transplant have been described with the use of calcineurin inhibitors. Although tacrolimus may be a better immunosuppressant than cyclosporine, its neurological side effects may be worse. Two children, living-related kidney transplant recipients, were treated with antibody induction, mycophenolate mofetil, prednisone, and tacrolimus. Soon after transplant, they each developed an encephalopathy, which when visualized by magnetic resonance imaging showed that it affected both white and grey matter of the brain. Although the encephalopathy was associated with the use of tacrolimus, there was a complete neurological recovery without cessation of the drug.- - - - - - - - - - ranking = 0.13255746459568keywords = brain (Clic here for more details about this article) |
8/90. Persistence of gadolinium in CSF: a diagnostic pitfall in patients with end-stage renal disease.Two dialysis-dependent patients with end-stage renal disease underwent brain and spine MR imaging a few days after having undergone gadolinium-enhanced imaging studies. Increased signal intensity in the subarachnoid space on T1-weighted and fluid-attenuated inversion recovery images was noted. Excretion of gadolinium into the CSF was proven in one case by mass spectrometry. Dialysis-dependent patients with end-stage renal disease and neurologic abnormalities often undergo contrast-enhanced MR imaging. Recognition that these patients may show increased signal intensity in the subarachnoid space because of gadolinium excretion into CSF may prevent diagnostic errors.- - - - - - - - - - ranking = 0.13255746459568keywords = brain (Clic here for more details about this article) |
9/90. Another autosomal recessive form of focal glomerulosclerosis with neurological findings.We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.- - - - - - - - - - ranking = 0.13255746459568keywords = brain (Clic here for more details about this article) |
10/90. A case of late-onset primary hyperoxaluria type 1.Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.- - - - - - - - - - ranking = 42.199447910372keywords = metabolic disorder (Clic here for more details about this article) |
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