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)

Neurological involvement in Wegener's granulomatosis was studied by reviewing the charts of 324 consecutive patients in whom the diagnosis was made at the Mayo Clinic. One hundred nine patients (33.6%) had neurological involvement. Peripheral neuropathy occurred in 53; cranial neuropathy, in 21; external ophthalmoplegia, in 16; cerebrovascular events, in 13; seizures, in 10; cerebritis, in 5; and miscellaneous involvement, in 25. The mean age and sex ratio were similar in the patients with and those without neurological involvement. Among the patients with peripheral neuropathy, 42 had mononeuropathy multiplex; 6, distal symmetrical polyneuropathy; and 5, unclassified peripheral neuropathy. Multiple mononeuropathy was a major presenting symptom in 8 patients. A significantly higher percentage of patients with peripheral neuropathy, compared to those without peripheral neuropathy, had kidney involvement (p < 0.001). The second, sixth, and seventh cranial nerves were most frequently affected. Multiple cranial nerves were affected in 8 patients. Unusual neurological manifestations in the miscellaneous group were spastic paraparesis, temporal arteritis, Horner's syndrome, and papilledema.
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PMID:Neurological involvement in Wegener's granulomatosis: an analysis of 324 consecutive patients at the Mayo Clinic. 838 87

Records of 108 patients with lupus erythematosus beginning in childhood (1953-1990) were reviewed; 25 had recorded neurologic findings. This is the largest group of childhood lupus erythematosus patients with neurologic disease that has been reported. The average age of children at the time of diagnosis of lupus was 154 months. There were 22 girls and 3 boys in the group. All patients met at least four of the 1982 American Rheumatism Association criteria for the classification of systemic lupus erythematosus. Average age at onset of neurologic difficulties was 168 months. In 4 patients, the neurologic symptoms preceded the diagnosis: 1 month (spastic diplegia), 1 month (bilateral weakness and spasticity), 24 months (chorea), and 26 months (chorea), respectively. Four patients had neurologic symptoms coincident with the diagnosis of lupus erythematosus. In those patients whose symptoms followed the diagnosis of lupus erythematosus, the average elapsed time until symptoms appeared was 33 months; the single lowest and highest outliers were discounted. Most frequent findings were headache (16/25) and behavioral aberrations (10/25). All behavioral manifestations were depression except in 1 patient. Other prevalent findings included hemichorea or chorea (7/25), cerebrovascular accident with hemiplegia or diplegia (7/25), seizures (5/25), visual loss (3/25), and cranial neuropathy (2/25). Vertigo and myelopathy occurred in 1 patient each. All patients were treated primarily with corticosteroids and azathioprine; in the presence of active disease, the drug dosages were increased with significant improvement in neurologic symptoms. Resolution usually occurred from days to months; most improved in a few days to a few weeks; 3-4 months was the longest period until symptoms subsided.
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PMID:Neurologic characteristics of childhood lupus erythematosus. 855 56

Familial transthyretin (TTR) amyloidosis commonly presents with peripheral neuropathy and involvement of visceral organs. In contrast, signs of central nervous system (CNS) involvement are exceptional. We report that members of a kindred affected by a slowly progressive dementia, seizures, ataxia, hemiparesis, and decreased vision without neuropathy have TTR amyloid deposits in the leptomeninges, the brain parenchyma, and the eye. This condition, previously labeled oculoleptomeningeal amyloidosis, is linked to a mutation at codon 30 of TTR gene, resulting in the substitution of valine with glycine in this family, TTR amyloid deposits were present in the leptomeninges, especially the leptomeningeal vessels, and in the subependymal regions of the ventricular system where they disrupted the ependymal lining and resulted in amyloid-glial formations protruding into and narrowing the ventricular system. Hydrocephalus and atrophy and infarction of cerebral and cerebellar cortexes were also present. Review of the literature shows that amyloid deposition in the leptomeninges is not uncommon in TTR amyloidoses clinically characterized by peripheral neuropathy and lack of CNS signs. The present kindred, which presented exclusively with signs of CNS involvement, expands the phenotype of TTR amyloidosis and raises questions concerning the mechanisms determining phenotypic expression in TTR familial amyloidosis.
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PMID:Transthyretin amyloidosis: a new mutation associated with dementia. 906 51

RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. The syndrome associates a Parkinson's syndrome, athymormia and hypoventilation. Massive neuronal depopulation in the locus niger and rare Lewy bodies are seen. PARKINSON'S SYNDROME WITH PERIPHERAL NEUROPATHY: In addition to the extrapyramidal signs, there is ptosis, neuropathy and sometimes dementia and major neurone loss in the locus niger. No Lewy bodies have been identified. PARKINSON'S SYNDROME WITH PALLIDOPONTONIGRAL DEGENERATION: Onset occurs between 32 and 58 years, leading to death within 8 years. Extrapyramidal signs, falls, supranuclear palsy and dementia are observed. Neurone loss is severe in the pars compacta, locu sniger, palladium, pons, and mesencephalic tegmentum. There are no Lewy bodies. EARLY-ONSET PARKINSON'S SYNDROME: Beginning between 2 and 39 years, there are no associated neurological signs. Severe neurone loss in the pars compacta and the pars reticulata of the niger locus without Lewy bodies. PARKINSON'S SYNDROME-DEMENTIA WITH "BALLOON NEURONES": This syndrome begins at 24-59 years and leads to death in 8 to 11 years. There are extrapyramidal signs, a pyramidal syndrome, dementia, generalized seizures and dysautonomia. Major neurone loss occurs with balloon neurones in the anterior temporal cortex, the amygdala, the parahippocampal gyrus, the hypothalamus, the dorsal nucleus of the X and rare Lewy bodies. PARKINSON'S SYNDROME FRONTAL DEMENTIA AND AMYOTROPHY: Beginning between 27 and 56 years, the syndrome leads to death in 13 years and associates frontal dementia with motor neurone defects with the extrapyramidal signs. There is neurone loss in the locus niger and amygdala as well as in the anterior horn of the cord. There are no Lewy bodies. SPECIFIC CLINICOPATHOLOGICAL ENTITIES: is the most likely hypothesis. There is no anatomoclinical evidence suggesting these syndromes should be considered to be Parkinson's disease.
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PMID:[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?]. 912 34

Liver transplantation is complicated by specific medical problems. Diabetes mellitus occurs in 4-20% of patients undergoing liver transplantation. Patients with primary sclerosing cholangitis and ulcerative colitis experience up to a 13% incidence of colon cancer after transplantation. Lymphomas occur in 1-3% of patients after transplantation and account for 57% of malignancies occurring in adult patients. Atraumatic bone fractures occur in 22-38% of patients and neurological complications, including seizures, headache, and neuropathy occur in 19-47% of patients following liver transplantation. Patients undergoing liver transplantation may experience recurrence of their primary liver disease: hepatitis B, hepatitis C, primary biliary cirrhosis, autoimmune hepatitis, or primary sclerosing cholangitis. In patients not receiving immunoprophylaxis after transplantation for chronic hepatitis B, recurrent hepatitis B is seen in up to 90% of patients. This can be markedly reduced with hyperimmune globulin immunoprophylaxis. Recurrent hepatitis C is seen in the majority of patients; current treatment modalities are inadequate. Recurrence of primary biliary cirrhosis or primary sclerosing cholangitis in the allograft is infrequent. Autoimmune hepatitis may recur in up to 26% of patients following liver transplantation. Primary disease recurrence in the allograft and preventive strategies are discussed.
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PMID:Medical problems occurring after orthotopic liver transplantation. 928 32

This is a case report of a twenty-five years old man who developed, due to lead intoxication, a severe axonal peripheral predominantly motor neuropathy, after a shotgun injury. The projectile was retained in the right hip. Before this diagnosis had been done he was treated with corticosteroids in immunosuppressive doses and showed an improvement, but he had worsened at each attempt to interrupt the drug. Because he had also other signs of lead intoxication, such as abdominal cramps, severe anemia and seizures it was search for the blood levels of lead that was 101.2 micrograms/dl. The patient was treated with calcium disodium edetate and surgical removal of lead fragments. After that he had a good outcome with no need of corticosteroids. It is emphasized the possible relevance of the immune system on the mechanism of plumbic intoxication and the importance of the withdrawal of the lead material retained in joints.
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PMID:[Possible role of the immune system in lead peripheral polyneuropathy. Case report]. 933 73

Ketogenic diet therapy has been found to be an effective means of treating afebrile seizures that are refractory to antiepileptic medication alone. Controversies exist regarding its use. Potential harmful side effects include Staphylococcus aureus infections, retarded growth, hypoglycemia, hyperlipidemia, urolithiasis, and optic neuropathy. Pediatric nurses with knowledge about ketogenic diet therapy and current research regarding its use, will be better able to determine the appropriateness of this form of therapy for children with seizures that cannot be controlled by medication alone.
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PMID:Use of the ketogenic diet in treating children with seizures. 935 82

An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.
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PMID:Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 943 60

The Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index is a validated instrument specifically designed to ascertain damage in SLE; this instrument has been applied mainly to Caucasians and African-American SLE patients. The objective of this study was to assess damage using the SLICC/ACR Damage Index in Mexican SLE patients. The SLICC/ACR Damage Index was applied to 210 consecutive SLE patients with disease of variable duration. The SLICC/ACR Damage Index was assessed by review of hospital clinical records, interview and physical examination. One hundred and seventeen (55.5%) patients had some damage. The proportion of patients with damage increased significantly with disease duration (33% at 1-60 months, 66% at 61-120 months and 70% at > or = 121 months, P < 0.001). The main organ systems involved were musculoskeletal (osteonecrosis), neuropsychiatric (neuropathy, seizures), gonadal (amenorrhea prior to age 40 years), ocular (cataracts), renal (glomerular filtration < 50%) and peripheral vascular (permanent damage by venous thrombosis). Damage was frequent, increased over time, particularly for ocular, renal, musculoskeletal and gonadal. Patients who experienced damage were older, had a longer disease duration, a greater number of ACR criteria at diagnosis, and were more likely to have renal involvement and antibodies to dsDNA. The damage occurred in many different domains and started to develop early after disease onset. Mexican patients had more peripheral vascular and gonadal involvement compared with published data from non-Hispanic SLE populations.
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PMID:Measurement of damage in 210 Mexican patients with systemic lupus erythematosus: relationship with disease duration. 958 Mar 42

Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors. Peripheral neuropathy is manifested as pain in the extremities, and it may progress to a severe motor neuropathy. Measurement of porphobilinogen in the urine gives a prompt diagnosis during acute attacks. Attacks are often induced by precipitating factors such as drugs, alcohol, infection, fasting or changes in sex-hormone balance, and they should be eliminated when a patient is treated during an attack. Heme, the end biosynthetic product, is the most effective therapy for restoration of porphyrin biosynthesis to normal, and it is usually infused at 3 mg/kg daily for 4 days. Adequate calories are necessary and parenteral nutrition with carbohydrates may be necessary. Attacks may also require therapy for hypertension, pain and epileptic seizures. Strict avoidance of all precipitating factors may not be necessary in the asymptomatic phase.
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PMID:Management of the acute porphyrias. 963 23


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