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mucopolysaccharide/seizures
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[Changes in acid mucopolysaccharide levels in the central nervous system of rats during convulsions induced by penicillin].
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Examined are changes in the acid mucopolysacharides contents (AMPS) in the brain of rat after I. P. application of 2 X 10(6) iu/kg of Na benzyl penicillin inducing epileptic-convulsive phenomenon with grand mal. Decreased AMPS were found in all examined cerebral regions except in cerebellum.
Progressive ataxia and seizures in a Cocker Spaniel: a new type of neurodegenerative disease with novel intra-neuronal inclusions.
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OBJECTIVE
To describe the histopathological lesions of a new canine disease characterised by progressive ataxia, head tremor and seizures, and to deduce the cause of the lesions.
METHODS
Formalin-fixed tissues were processed into paraffin wax and epoxy resin for light and transmission electron
2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat.
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Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice.
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Mucopolysaccharidosis type IIIB (Sanfilippo syndrome) is a lysosomal storage disease caused by a genetic defect in the production of alpha-N-acetylglucosaminidase. This results in lysosomal and extracellular accumulation of the undegraded glycosaminoglycan (GAG) substrate, heparan sulphate. Affected
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.
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An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since
Striopallidodentate calcifications: nosographic, neuropathological and clinical proposal. Case report.
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The case of a 52-year-old man with an ataxicspastic syndrome associated with dystonia, faciobuccolingual dyskinesias and partial epileptic seizures is reported. Neurological imaging showed aspecific brain stem parenchymal alterations. Cerebellar biopsy revealed calcifications and the accumulation of
I-cell disease.
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A 6-month-old female infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, restricted joint movements and radiological features suggestive of the Hurler syndrome. Her urine showed no excess excretion of mucopolysaccharides. I-cell disease was
The Costello syndrome.
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In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, two similar cases were
In-flight incapacitation and cystic medial necrosis.
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BACKGROUND
The major causes of in-flight fatal incapacitation in civil pilots are acute coronary events, new onset idiopathic epilepsy, and physiological problems. Less than 1% of all air accidents are due to sudden incapacitaion. The problem with acute coronary disease is very serious when
[Calcification of the basal nuclei in hypoparathyroidism. The computed and magnetic resonance tomographic aspects].
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Six female patients with hypoparathyroidism (2 idiopathic and 4 postoperative cases following total thyroidectomy) were examined with brain CT scans; 4 of them underwent MR exams too. Two patients presented with no symptoms, 4 exhibited extrapyramidal syndrome, tetany, fainting seizures or ischemic
Familial juvenile neuronal storage disease. New disease or variant of juvenile lipidosis?
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Two patients had an illness characterized by a positive family history, juvenile onset, macular cherry-red spots, myoclonus, generalized convulsions, and cerebellar ataxia. Neither had dementia, gargoyle facies, bone or joint deformities, or visceromegaly. Vacuolated lymphocytes were not seen in the
Rathke's Cleft Cyst Apoplexy in Two Teenage Sisters.
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Rathke's cleft cysts (RCC) are sellar-suprasellar cysts that are usually discovered incidentally given their indolent clinical course. When symptoms do arise, the most common clinical presentation is headache, visual field deficits due to visual pathway compression, diplopia due to cavernous sinus
Dementia associated with scleromyxoedema reversed by high-dose intravenous immunoglobulin.
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Scleromyxoedema is a rare skin disease, characterized by deposition of acid mucopolysaccharides in the dermis. Although the disease primarily affects the skin, cardiovascular, renal and rheumatological manifestations have been described. In addition to these noncutaneous manifestations, about 15% of
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
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We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were
Adult type neuronal storage disease with neuraminidase deficiency.
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We describe a patient with adult-onset neuronal storage disease characterized by myoclonus, cerebellar ataxia, convulsive seizures, cherry-red spots, skeletal dysplasia, mild gargoyle features, inguinal hernia, and angiokeratoma. Cytoplasmic inclusions consistent with lysosomal storage disease were
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