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)

A case of congenital lipodystrophy complicated by complex-partial epilepsy is reported in a nine-year-old girl. The peculiarity of this rare case is represented by partial complex epilepsy with diffuse electroencephalographic alterations represented by a continuous seizure-like pattern that persisted unmodified despite the successful antiepileptic treatment. Although the etiopathology of lipodystrophy is, at present, still elusive, we hypothesize that the primitive dysfunction of lipidic metabolism plays a critical role in both determining central nervous system (CNS) alterations and the findings that characterized this extremely rare disease.
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PMID:Epilepsy in congenital lipodystrophy. Case report. 807 16

Moyamoya is an obstructive cerebrovascular disease characterized by a cerebral angiographic picture of stenosis or occlusion of main cerebral arteries with an abnormal vascular network at the base of the brain. No definitive cause has been found for this disease and opinion is still divided between a congenital and an acquired etiology. Hemiplegia of sudden onset and epileptic seizures are the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. We report a new case of childhood moyamoya with clinical onset of the neurological symptoms within the 3rd year of life; during the child's illness the maternal grandmother presented with moyamoya disease too. Antiaggregating and calcium-antagonist drugs seem effective in preventing further vascular accidents, while a surgical approach is not possible. Computed tomography, single positron emission computed tomography, and magnetic resonance imaging are very useful in the diagnosis of this rare disease.
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PMID:Moyamoya disease in childhood: a familial case report. 840 3

We present a case-report and review of the literature on membranous lipodystrophy. This is a rare disease characterized by progressive presenile dementia, multiple bone cysts with pathologic fractures, generalized cerebral seizures with abnormal EEG and bilateral calcifications of the basal ganglia. Neuropathological findings are neuroaxonal dystrophy with neurofilaments in the axons, neuronal cell loss and fibrillary gliosis. The disease is usually inherited as an autosomal recessive. The pathogenesis is unknown but is believed to be an enzyme defect of the glycolipid metabolism.
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PMID:[Membranous lipodystrophy (Nasu-Hakola disease)]. 850 15

Polycythemia--characterized by an excessive number of erythrocytes--is a rare disease in the dog with a chronic progressive course and unspecific symptoms. There are several forms: a primary, a secondary adequate or a secondary inadequate polycythemia. The clinical workup is done step by step and after stabilization of critical patients, the remaining therapy must address the primary cause. We report on a five year old male Leonberger dog suffering from secondary, inadequate polycythemia. He was presented with apathy, gait disturbances and disorientation. On the basis of the diagnostic workup a pathological process in the kidneys was postulated. Initially focal seizures became generalized later, most probably because of formation of a forebrain thrombus with secondary hypoxia. Even after emergency treatment the general state deteriorated. The course indicated possible sepsis. Because of the critical picture with secondary complications and the poor prognosis, the dog was euthanised. The histopathological results showed T-cell renal lymphoma and secondary injury to the forebrain.
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PMID:[Convulsions in relation to polycythemia: literature review and case description]. 952 46

Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Lung transplantation is the only consistently effective therapy for LAM. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other disease (referred to as "sporadic LAM") or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental retardation, and tumors in the brain, heart, skin, and kidney. Renal angiomyolipomas occur in approximately 50% of sporadic LAM patients and in 70% of TSC patients. Loss of heterozygosity (LOH) in the chromosomal region for the TSC2 gene occurs in 60% of TSC-associated angiomyolipomas. Because of the similar pulmonary and renal manifestations of TSC and sporadic LAM, we hypothesized that LAM and TSC have a common genetic basis. We analyzed renal angiomyolipomas, from 13 women with sporadic LAM, for LOH in the regions of the TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. We also found TSC2 LOH in four lymph nodes from a woman with retroperitoneal LAM. No TSC1 LOH was found. Our findings indicate that the TSC2 gene may be involved in the pathogenesis of sporadic LAM. However, genetic transmission of LAM has not been reported. Women with LAM may have low-penetrance germ-line TSC2 mutations, or they may be mosaic, with TSC2 mutations in the lung and the kidney but not in other organs.
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PMID:Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. 952 62

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare disease entity following chronic alcohol ingestion. It is quite distinct from alcohol withdrawal syndromes, such as delirium, withdrawal seizures or CNS complications of alcohol, such as Wernicke-Korsakow syndrome, central pontine myelinolysis or Marchiafava-Bignami disease, and was proposed in 1981 by Niedermeyer and coworkers. This syndrome consists of multiple neurological deficits, such as hemiparesis or hemianopia, and of recurrent focal and generalized seizures associated with prominent EEG features (periodic lateralized discharges, PLEDs). A 72-year-old Caucasian male with chronic alcoholism and an otherwise unremarkable past medical history was admitted to our hospital because of several secondary generalized simple partial seizures. Laboratory investigations revealed elevated levels of gamma-glutamyltranspeptidase and of mean corpuscular volume. Other laboratory investigations and the CSF examinations on three occasions revealed normal values. Cranial computed and magnetic resonance tomography showed cerebral microangiopathy and generalized atrophy. Despite triple anticonvulsive therapy and an intravenous treatment with acyclovir and thiamine, the epileptic seizures persisted. Several EEGs revealed left parietooccipital periodic lateralized epileptiform discharges (PLEDs). The patient died of an intercurrent pulmonary infection about 3 months after the onset of symptoms. The described clinical picture resembles the symptoms of SESA syndrome.
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PMID:[Subacute encephalopathy with epileptic seizures in a patient with chronic alcoholism (SESA syndrome)]. 955 62

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease of infancy and young childhood. The clinical presentation includes recurrent unexplained fever with hepatosplenomegaly. Cytopenia, hypofibrinogenemia and/or hypertriglyceridemia and hemophagocytosis in bone marrow, spleen and lymphnode confirm the diagnosis. Hemophagocytosis may not be present at the beginning. In these cases, diagnosis is facilitated by a positive family history, a relapsing course of the disease, the frequent involvement of the central nervous system and positive findings on immunological work-up. Treatment by chemotherapy and immunosuppressants can achieve sustained remissions in most patients and reinduction of remission after relapse is possible. Most children however, eventually die from progressive disease. At present, allogeneic bone marrow transplantation is the only curative therapeutic option. Between August 1992 and May 1997 eleven consecutive patients with HLH received bone marrow from unrelated (n = 7) or matched sibling donors (n = 4). The conditioning regimen consisted of busulfan, VP-16 and cyclophosphamide. Patients engrafted after a median time of 16 days (13-43). Only one patient developed grade III acute GVHD, another patient, grade II acute GVHD. Although regimen-related toxicity was extensive, all patients have survived without signs of HLH after a median follow up of 20 months (8-63). One patient suffers from chronic GVHD, three patients reveal psychomotoric retardation and one patient has severe impairment with spastic tetraparesis, amaurosis and seizures. Our experience shows that HLH can be successfully treated by allogeneic BMT from unrelated donors.
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PMID:[Treatment of hemophagocytic lymphohistiocytosis, HLH, with bone marrow transplantation]. 974 50

This report describes two Spanish cases of acute necrotizing encephalopathy of childhood, a rare disease first described in Japan by Mizuguchi and colleagues. Similar cases have been reported from Taiwan and other countries of the Far East. Two cases have been reported from the UK and one from the USA. The disease affects young children and is characterized by acute encephalopathy after a viral illness, with seizures and decreased levels of consciousness. The hallmark of the disease is diffuse and symmetrical CNS lesions of both thalami, internal capsules, upper brainstem tegmentum, and cerebral white matter. The aetiology is unknown but an infectious or parainfectious process seems likely. Because of the predominant involvement of the thalami, we propose the term 'infantile bilateral thalamic necrosis', a more specific term and one which distinguishes the entity from other basal ganglia diseases in childhood.
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PMID:Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. 988 7

Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdo-enzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. No therapy is known for this rare disease, which results in neonatal seizures and other neurological symptoms identical to sulphite oxidase deficiency. It is inherited autosomal-recessively and leads to early childhood death. Prenatal diagnosis has been performed since 1983 by the measurement of sulphite oxidase activity, but no enzymatic carrier diagnosis is possible. The human genes necessary for MoCo biosynthesis have recently been cloned and mutations in the bicistronic MOCS1 gene could be identified in most European patients. In a Danish family we have now performed enzymatic and molecular genetic analysis in parallel after chorionic villus sampling. The sulphite oxidase activity in uncultured CVS material was found to be normal. A MOCS1 splice site mutation, found homozygous in the affected patient, was found in a heterozygous state in cultured chorionic cells. This confirmed that the fetus was not affected, since heterozygous carriers of a MoCo deficiency allele do not display any symptoms.
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PMID:Molybdenum cofactor deficiency: first prenatal genetic analysis. 1032 49

We report a five-year-old boy with 4-hydroxybutyric aciduria. The child presented with global developmental delay, severe hypotonia and myoclonic seizures. The urine 4-hydroxybutyric acid was 1038 times that of normal, and other organic acids related to its further metabolism were also increased. Electroencephalography showed findings indicative of cerebral dysfunction. However, other neurophysiological studies were normal. Clinical improvement was observed after the administration of vigabatrin and dextromethorphan. Magnetic resonance imaging of the brain revealed cerebellar vermin atrophy and subtle white matter changes in the cerebral hemispheres. Fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) scan of the brain showed a marked decrease in the cerebellar metabolism, probably related to atrophy of cerebellar vermis and secondary cerebellar deafferentation. FDG PET scan is found to be of value in the understanding and assessment of brain functional alterations. It may be useful in monitoring and optimizing treatment strategies of this rare disease.
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PMID:Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease. 1072 66


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