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)

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
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PMID:[Carbohydrate-deficient blood glycoprotein syndrome]. 1070 Oct 64

Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising spondyloepiphyseal dysplasia, nephrotic syndrome, defective T-cell-mediated immunity, and vascular changes which can lead to cerebral infarcts. The cause is unknown but an autosomal recessive inheritance pattern has been suggested. Understanding of the clinical phenotype is evolving; however, the neurologic spectrum is not well known. We report on a 17-year-old woman who presented with behavior changes, developmental regression, and partial complex seizures in early childhood. Computed tomographic scan of the brain was normal at that time. Short stature and cognitive deficits became evident several months later. At 4 1/2 years, she developed nephrotic syndrome and later malignant hypertension. Recent magnetic resonance imaging of the brain showed focal encephalomalacia in the parietal regions and a magnetic resonance angiography documented narrowing of the middle cerebral arteries. A skeletal survey showed evidence of spondyloepiphyseal dysplasia. We have not been able to identify an immune defect. To our knowledge this is the first reported patient with SID, profound mental retardation, and a seizure disorder. This case supports the theory that an intrinsic vascular defect may be more important in the pathogenesis of SID than a T-cell-mediated immune deficit.
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PMID:Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. 1071 Feb 26

A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain atrophy and a white matter change. Neuropathological examination revealed a neurodegenerative disease mainly involving the white matter with olivopontocerebellar degeneration. She also had the nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebellar symptoms since the middle age. All possible metabolic studies were negative. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some inherent metabolic derangement affecting both the nervous system and the kidneys.
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PMID:A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. 1076 30

A 9-year-old boy with nephrotic syndrome was transferred to our hospital because of acute renal failure and disturbance of consciousness after high-dose methylprednisolone therapy. He developed severe headache, visual disturbance, and generalized seizures. Brain computed tomography (CT) scan revealed multiple, bilateral, low-density areas in the parieto-occipital lobes. Magnetic resonance imaging (MRI) disclosed a high signal intensity area on T2-weighted images and a low signal intensity area on T1-weighted images in the same lesion. Follow-up brain CT scan and MRI, 2 weeks after the first studies, showed complete resolution of the abnormal lesions, which suggested the diagnosis of reversible posterior leukoencephalopathy syndrome (RPLS). Hypertension and high-dose methylprednisolone administration to the patient in the nephrotic state may be causes of this uncommon syndrome in this case. This is the first report of RPLS in nephrotic syndrome with hypertension not associated with cyclosporine administration.
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PMID:Reversible posterior leukoencephalopathy in a patient with minimal-change nephrotic syndrome. 1127

For over 30 years cyclophosphamide (CYC) and chlorambucil (CHL) have been used to treat children with relapsing steroid-sensitive nephrotic syndrome (SSNS). A meta-analysis on treatment protocols, efficacy, and side effects of CYC and CHL was performed from the literature. Thirty-eight studies comprising 1,504 children and 1,573 courses of cytotoxic drug therapy were systematically evaluated. Relapse-free survival rates increased with the cumulative dosage of CHL and CYC and were higher in children with frequently relapsing than steroid-dependent NS. The fatality rate of the treatment was approximately 1%. Leukopenia occurred in one-third of patients treated with either drug. Severe bacterial infections developed in 1.5% of the patients under CYC and in 6.8% under CHL. Seizures were observed in 3.6% of children treated with CHL. Malignancies were observed in 14 children after high doses of either drug. Females rarely developed permanent gonadal damage. However, no safe threshold for a cumulative amount of CYC was found in males, but there was a marked increase in the risk of oligo- or azoospermia with higher cumulative doses. From this meta-analysis we recommend CYC 2-3 mg/kg body weight for 8-12 weeks as the standard scheme. CHL has higher rates of severe side effects and should be considered a second-line drug.
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PMID:A meta-analysis of cytotoxic treatment for frequently relapsing nephrotic syndrome in children. 1132 78

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.
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PMID:Another autosomal recessive form of focal glomerulosclerosis with neurological findings. 1179 29

The incidence of Kaposi's sarcoma (KS) has increased in solid organ transplantation recipients. This type of KS tends to be aggressive, involving lymph nodes, mucosa and visceral organs in about half of patients, sometimes in the absence of skin lesions. Brain involvement of KS has rarely been reported. A 16-yr-old Turkish boy underwent renal transplantation from his mother. The immunosuppressive regimen included prednisolone, cyclosporin A and azathioprine. Fourteen months later the azathioprine was changed to cyclophosphamide (3 mg/kg/day) because of the development of a nephrotic syndrome. After 12 weeks, the cyclophosphamide was changed to mycophenolate mofetil (MMF) to control the nephrotic syndrome. At this time his serum creatinine level rose to 2.1 mg/dL. Polyclonal or monoclonal antibodies were never given. Multiple intra-abdominal lymphadenopathy was detected on abdominal tomography at the 32nd month after renal transplantation. Kaposi's sarcoma was diagnosed via laparotomy and biopsy. He had a generalized tonic and clonic seizure and contrast enhanced cranial tomography showed two intracranial masses which had an abundant vascular component which caused a mild shift. One of the masses was removed via a burr-hole with the aim of diagnosis and treatment of the shift. A pathologic examination of the intracranial lesion was also reported as Kaposi's sarcoma. Herpes virus-8 DNA was detected by PCR in the intracranial lesion.
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PMID:Visceral Kaposi's sarcoma with intracranial metastasis: a rare complication of renal transplantation. 1258 19

We report a case and autopsy findings of posterior leukoencephalopathy (PL) developing during induction chemotherapy for B-cell acute lymphoblastic leukaemia (B-ALL) complicated by tumour lysis syndrome. PL may present with seizures, headache, altered mental status and occipital blindness, associated with transient parieto-occipital abnormalities on neuro-imaging studies. Precipitants include immunosuppressive agents, renal insufficiency, hypertension and fluid retention. It has also been reported in association with pre-eclamptic and eclamptic states, nephrotic syndrome and following liver and bone marrow transplantation. Only rare cases of PL developing during treatment for haematological malignancy have been reported and to our knowledge it has not been previously reported in association with tumour lysis syndrome. Since the condition is generally regarded as being fully reversible few autopsy findings have been reported.
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PMID:Posterior leukoencephalopathy in association with the tumour lysis syndrome in acute lymphoblastic leukaemia--a case with clinicopathological correlation. 1277 51

In the "minimal change" nephrotic syndrome (MCNS), steroids induce remissions in most cases (93% in children and 81% in adults). Response occurs in an average time of 11 days in children but may take up to 16 weeks in adults. The dose of prednisone is 60 mg/m(2)/day (maximum 80 mg/day) given usually for 4 weeks and then reduced to 40 mg/m(2) on alternate days for a few weeks. The medication may be discontinued abruptly at the end of the course of treatment. Children who do not respond to prednisone should be biopsied. Those whose biopsy shows minimal changes may have a remission with more prolonged alternate day treatment, or may need cyclophosphamide or cyclosporine. Relapses of nephrotic syndrome are common and usually respond to steroids given daily until remission, then on alternate days for 4 weeks. In adults prednisone on alternate days for 1 year after the presenting attack decreases the risk of relapse. Toxicity is a problem only in steroid-dependent patients who may require other drugs. Cyclophosphamide (2-3 mg/kg/day) and chlorambucil (0.15 mg/kg/day) for 8-12 weeks induce long-term remissions in 25-70% of children and are also beneficial in adults. The effectiveness of cyclophosphamide in steroid-resistant MCNS is limited to bringing about a faster remission. In children with MCNS who are initially steroid-responsive and later become resistant, cyclophosphamide usually induces a remission and restores steroid responsiveness. The toxicity of cyclophosphamide and chlorambucil in MCNS has generally been mild and reversible. It includes bone marrow depression, hemorrhagic cystitis, some hair loss, infertility and, extremely rarely, oncogenesis. The risk of gonadal toxicity is minimized with total doses below 200 mg/kg for cyclophosphamide and 7-10 mg/kg for chlorambucil. Seizures have been reported in 8% of children treated with chlorambucil. Cyclosporine (6 mg/kg/day initially) produces complete remissions in 85% of children and 79% of adults with steroid dependence and in 67% of children and 61% of adults with steroid resistance. Levamisole may be helpful in steroid-dependent cases, but data about its efficacy are conflicting. Cyclosporine and levamisole usually do not induce permanent remissions.
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PMID:Pharmacological treatment of nephrotic syndrome. 1297 5

Reversible posterior leukoencephalopathy syndrome is one of the most serious complications of immunosuppressive therapy. The clinical features include headache, altered mental functioning, seizures, cortical blindness and other visual disturbances, with hypertension. The neuroimaging studies reveal predominant posterior leukoencephalopathy. Usually, antihypertensive therapy and reduction or withdrawal of immunosuppressive agents have been reported to resolve the neurological deficits and imaging abnormalities within a few weeks. We discuss here a 51-year-old woman with nephrotic syndrome who developed acute leukoencephalopathy during combination therapy with prednisolone and cyclosporine. She developed severe headache, visual disturbance, consciousness disturbance, and generalized tonic clonic convulsion. A computed tomography scan (CT) revealed low-density areas in the subcortices of the parietal and occipital lobes. Magnetic resonance imaging (MRI) disclosed a high signal intensity area on T2-weighted images and a low signal intensity area on T1-weighted images in the same lesions. Follow-up brain CT and MRI were performed several times. Three weeks after the first study, these lesions had completely resolved, but she had persistent altered consciousness for more than 1 year.
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PMID:Acute posterior leukoencephalopathy in a patient with nephrotic syndrome. 1458 46


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