Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Galloway-Mowat syndrome (GMS) (MIM251300) is described as an autosomal recessive disorder, the gene of which has not yet been identified. We report the case of a boy presenting with an early nephrotic syndrome, microcephaly, seizures, and psychomotor retardation. He died at 3 years and 11 months in a context of end-stage renal function consistent with a GMS. He was the second child of a non-consanguineous marriage. There was no family history of nephrotic syndrome or end-stage renal failure, but his mother had a moderate mental retardation complicated by seizures. He presented dysmorphologic features, including micrognathia and large and floppy ears. Renal biopsy showed a focal segmental glomerulosclerosis with a collapsing glomerulopathy and abundant visceral epithelial cell proliferation. The majority of the glomeruli were sclerotic. We report the first case of GMS associated with a collapsing glomerulopathy.
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PMID:Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. 1827 83

Posterior reversible encephalopathy syndrome (PRES) is a recently proposed clinico-neuroradiological entity observed in a variety of clinical settings such as cyclosporin A (CsA) neurotoxicity. We report a 3.5-year-old Syrian boy in whom steroid-resistant focal segmental glomerulosclerosis (FSGS) was recently diagnosed. The patient remitted his nephrotic syndrome after 10 days of CsA administration. However, he shortly developed altered mental status, visual impairment, focal neurological deficits and seizures. We discontinued CsA that resulted in complete reversal of the patient's encephalopathical condition over a period of 4 months. We conclude that PRES should be suspected in immunosuppresed patients with kidney disease if they have a sudden episode of neurological symptoms.
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PMID:Cyclosporin-A induced posterior reversible encephalopathy syndrome. 2081 43

Reversible posterior leukoencephalopathy syndrome (RPLS) is a neurological syndrome characterized by headache, seizures, and visual loss, often associated with an abrupt increase in blood pressure. It was first described by Hinchey and colleagues in 1996 when they described a case series. RPLS has been described in number of medical conditions, renal dysfunction being one of them. Prompt diagnosis and therapy with antihypertensives, anticonvulsants, removal of any offending medication, and treatment of associated disorder are essential because early treatment might prevent progression to irreversible brain damage. Here, we report a case of young man with focal segmental glomerulosclerosis (FSGS) and heavy proteinuria, who developed classical, clinical, and neurological features of RPLS with complete recovery.
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PMID:Reversible posterior leukoencephalopathy syndrome in a patient of FSGS with heavy proteinuria. 2066 6

Coenzyme Q10 (ubiquinone or CoQ10) serves as a redox carrier in the mitochondrial oxidative phosphorylation system. The reduced form of this lipid-soluble antioxidant (ubiquinol) is involved in other metabolic processes as well, such as preventing reactive oxygen species (ROS) induced damage from the mitochondrial membrane. Primary coenzyme Q10 deficiency is a rare, autosomal recessive disorder, often presenting with neurological and/or muscle involvement. Until now, five patients from four families have been described with primary coenzyme Q10 deficiency due to mutations in COQ2 encoding para-hydroxybenzoate polyprenyl transferase. Interestingly, four of these patients showed a distinctive renal involvement (focal segmental glomerular sclerosis, crescentic glomerulonephritis, nephrotic syndrome), which is only very rarely seen in correlation with mitochondrial disorders. The fifth patient deceases due to infantile multi organ failure, also with renal involvement. Here we report a novel homozygous mutation in COQ2 (c.905C>T, p.Ala302Val) in a dizygotic twin from consanguineous Turkish parents. The children were born prematurely and died at the age of five and six months, respectively, after an undulating disease course involving apneas, seizures, feeding problems and generalized edema, alternating with relative stable periods without the need of artificial ventilation. There was no evidence for renal involvement. We would like to raise awareness for this potentially treatable disorder which could be under diagnosed in patients with fatal neonatal or infantile multi-organ disease.
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PMID:A novel mutation in COQ2 leading to fatal infantile multisystem disease. 2334 5

The patient was a 35-year-old female with an 9-year history of chronic kidney disease awaiting renal transplantation. She was brought to hospital by ambulance due to a generalized convulsive seizure. Her consciousness remained disturbed after treatment for her seizure, and sensorineural deafness was noted. Lactic acid and pyruvic acid levels were extremely elevated in both the plasma and the cerebrospinal fluid, and brain atrophy was obvious on brain imaging. These findings suggested mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, which was confirmed by muscle biopsy. Previous renal biopsy specimen showed focal segmental glomerulosclerosis and granular swollen epithelial cells. She had no acute progression of the stroke-like episode with L-arginine treatment. However, the brain lesions expanded on MRI. Mitochondrial DNA analysis from a muscle biopsy specimen showed G13513A mutation. The G13513A mutation and the long history of preceding renal failure before the stroke-like episodes were distinctive features in this case.
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PMID:[A case of MELAS with G13513A mutation presenting with chronic kidney disease long before stroke-like episodes]. 2378 22

To determine the patterns in children with nephrotic syndrome (NS) in our region, we retrospectively studied 25 nephrotic patients evaluated and followed-up in the hospitals of the Aljouf region in Saudi Arabia. The male to female ratio was 2:1. The incidence of idiopathic NS was two to six cases per 100,000 children/year, while the prevalence was 12 cases per 100,000 children. Five patients presented with hypertension, seven (28%) with respiratory tract infection, three (12%) with tender abdomen, two (8%) with gross hematuria, one (4%) with thrombosis of renal veins with seizure and shock and the remaining seven presented to the hospital without complications. Twenty-three (92%) patients were sensitive to the first steroid course and two (8%) patients were steroid resistant, and both of them proved to have focal segmental glomerulosclerosis (FSGS) on biopsy. Of those who responded, six (24%) patients remained in remission, while 17 (68%) patients became steroid dependant. Of those who were diagnosed as steroid dependent, three patients were biopsied and one of them was diagnosed as FSGS, while the remaining two had minimal change glomerulonephritis. Regarding steroid-dependent patient relapses, seven (41%) patients showed infrequent relapses and ten (59%) patients had frequent relapses. We conclude that the patterns of NS and the response to treatment observed in this study did not differ significantly from studies from other places in the world.
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PMID:Patterns of childhood nephrotic syndrome in Aljouf region, Saudi Arabia. 2519 18

Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome characterized by reversible vasogenic edema in the posterior hemispheres. PRES is most often attributed to primary hypertension, pre-eclampsia, and neurotoxicity secondary to immunosuppressants such as cyclosporine. Renal disease is an infrequent cause of PRES with a majority of cases occurring in adults with complete renal failure or in pediatric cases with underlying renal parenchymal disease and concurrent immunosuppressive therapy. Typical symptoms include seizure, headache, altered mental status, and visual disturbances. PRES is rarely associated with cerebral hemorrhage, and even less so with subarachnoid bleeds. Herein we report on a 25-year-old female with focal segmental glomerulosclerosis who developed PRES. The patient's presentation was more severe as she presented with seizure, nephrotic syndrome, and subarachnoid hemorrhage. Computed tomography and magnetic resonance imaging with concurrent symptoms led us to the final diagnosis. The patient was treated with antihypertensives, diuretics, and corticosteroids and follow-up imaging revealed resolution of PRES. Our case illustrates that underlying kidney disease even without immunosuppressive agents should be added to the list of possible causes for PRES. Symptoms are reversible with treatment of underlying cause or offending agent.
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PMID:Posterior reversible encephalopathy syndrome in a woman with focal segmental glomerulosclerosis. 2596 Jun 54

Posterior reversible encephalopathy syndrome (PRES) is a neurological condition that occurs secondary to a variety of causes like autoimmune diseases, uncontrolled hypertension and immunosuppressive agents. We report an unusual association of PRES and malignant hypertension secondary to focal segmental glomerulosclerosis in a young woman, presenting with sudden loss of vision and seizures. She had uncontrolled hypertension and a Glasgow Coma Scale of 6/15. Brain MRI revealed high signals in cortical and subcortical white matter and some involvement of the periventricular areas. She improved dramatically with antihypertensive and antiepileptic medications and was discharged home in a stable condition. It is important to have a high clinical suspicion for this uncommon condition in an appropriate clinical setting, because a timely intervention can prevent long-term complications.
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PMID:Posterior reversible encephalopathy syndrome in malignant hypertension secondary to focal segmental glomerulosclerosis. 2753 34

An uncommon side effect of cyclosporine A (CsA) use is posterior reversible encephalopathy syndrome (PRES). PRES usually develops because of disturbed capacity of posterior cerebral blood flow to autoregulate an acute rise in blood pressure. We present the case of a 10-year-old girl who was previously diagnosed in our department with focal segmental glomerulosclerosis. She was treated with CsA and developed seizures, progressive loss of consciousness, and visual disturbance on the 7th day of treatment. Brain magnetic resonance imaging showed degeneration of white matter with diffuse demyelination in the parietal and posterior occipital lobes, consistent with the diagnosis of PRES. Cases of PRES reported in children are usually secondary to immunosuppressive therapy in oncological and haematological diseases. Our case is the fifth reported case of focal segmental glomerulosclerosis in children treated with CsA and complicated by PRES. Rapid recognition of PRES and stopping neurotoxic therapy early are essential for a good prognosis.
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PMID:Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome. 2931 Apr 86

We report here on a patient who presented with myasthenia gravis type symptoms (fatigable ptosis, increased jitter on single fiber EMG, and a thymic mass) who was subsequently diagnosed with a mitochondrial myopathy. Sequencing of the mitochondrial genome (mtDNA) identified a transition variant in the tRNA asparagine gene (MT-TN) (m.5728T>C) at in 41% of mtDNA molecules in muscle tissue. The variant was not detectable in blood. The m.5728T>C variant has been reported previously in a ten year old male with global developmental delays, failure to thrive, ataxia, weakness, cognitive regression, seizures, and glomerulosclerosis. The variant was seen in 97% of mtDNA molecules in muscle and 50% in blood. This case report supports the pathogenicity of the m.5728T>C and helps to establish the phenotypic spectrum of this condition at a lower heteroplasmy.
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PMID:Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C). 3102 15


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