Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A male with an atypical adrenomyeloneuropathy is described, who developed spastic paraparesis at the age of 37. Because his gait deteriorated further and he had a bladder dysfunction, he was admitted to National Sanatorium Hyogo Central Hospital at the age of 51. A diagnosis of adrenomyeloneuropathy was supported by increased level of very long chain fatty acids in plasma. He became demented and suffered from grand mal seizures during the last one year of his life. CT scan showed symmetrical hypodense lesions in the centrum semiovale. He died of pneumonia and renal failure at the age of 53. Autopsy revealed symmetrical degeneration throughout the corticospinal tracts from cerebral white matter to lumbar spinal cord. Degeneration of the optic radiation, posterior half of the corpus callosum, thalamus, cerebellar white matter, and gracile tract in high cervical segments were also observed. In these area, there was a loss of myelin and axon with marked gliosis and foamy macrophages, as well as mild perivascular cuffing. In our case, symmetrical and well-defined lesion in cerebral white matter is atypical for adrenomyeloneuropathy, while destruction of the gracile tracts is not a feature of adrenoleukodystrophy. In addition, well-demarcated "pseudosystemic" type of fiber tract degeneration appears to be different from a feature of primary demyelination which has been considered to be an essential alteration of adrenoleukomyeloneuropathy-complex. We propose another hypothesis, therefore, that neurons are primarily altered, thereby leading to the degeneration of myelins in this disease.
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PMID:[A case of adrenomyeloneuropathy with localized cerebral white matter degeneration]. 261 1

A 41 year-old woman presented with two Grand Mal fits followed by progressive spastic paraparesis and intellectual impairment. After 18 months there was a remission which lasted for 4 years but thereafter inexorable progression of the disease and many fits led to a state of akinetic mutism. Death occurred nine and a half years after the onset of the illness. There was no family history. The neuropathological studies included light and electron microscopy of a cerebral biopsy and a complete post mortem examination. Myelin loss and cavitation of the white matter was associated with the presence of sudanophilic lipid and abundant cells at the periphery of the lesions. These cells had the characteristics of oligodendrocytes. The combination of sudanophilic leucodystrophy, cavitation of white matter and oligodendrocyte proliferation has previously been observed only in childhood.
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PMID:[Cavitary orthochromatic leukodystrophy in the adult. Oligodendroglial proliferation and inclusions]. 609 15

Fumaric aciduria is a rare, autosomal recessive disorder caused by deficient activity of fumarate hydratase (FH). Common clinical features are hypotonia, failure to thrive, severe psychomotor retardation and seizures. Facial dysmorphism and brain malformations are frequent. Recently, some FH gene mutations have been associated with inherited cutaneous and uterine leiomyomas and papillary renal cell cancer. Our patient had a relatively mild phenotype, a previously not reported genotype and familial tumour predisposition. The mother and grandmother had uterine myomas. The paternal grandfather and his two brothers died from lung and laryngeal cancers. The pregnancy was complicated by bleeding and intrauterine growth retardation. Delivery was after 35 weeks, with normal Apgar score. The girl was hypotonic since birth. At age 2 months the parents noticed short apnoeic crises. She could sit at age 1.5 years, and walk with assistance at 4 years. At age 8 years highly increased excretion of fumaric acid was found twice (217 and 445 mmol/mol creatinine). Shortly before that the girl started to have leg and arm spasms. Grand mal seizures occurred twice. Facial dysmorphism included depressed nasal bridge, anteverted ears, hypertelorism and microcephaly. Speech was limited to few disyllables. She was atactic with spastic paraparesis. Brain MRI showed slight ventriculomegaly, white-matter atrophy and hypoplasia of corpus callosum. Activity of FH in fibroblasts was 1.9 nmol/min/mg protein (controls 40-80). Analysis of the FH gene revealed the maternally derived c.1029_1031delAGT mutation, resulting in Val deletion and substitution of Gln by His, and paternally derived c.976C > T mutation, resulting in substitution of Pro by Ser.
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PMID:Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations. 1697 75

A case of protothecosis causing non-ambulatory paraparesis in a dog without clinical evidence of disseminated infection is described. A five-year-old female Labrador retriever was referred with a 10-day history of progressive non-ambulatory paraparesis and lumbar pain as the only physical and neurological abnormalities. Lumbar myelography revealed severe extradural spinal cord compression extending from L4 to L7 vertebrae, and a right hemilaminectomy was performed. Surgical findings included an adherent whitish hard ill-defined mass. Cytology and biopsy results disclosed the presence of algae enclosed in a matrix of chronic inflammatory infiltrate. Culture confirmed the presence of Prototheca species. Neurological improvement occurred within a month, and the dog received antifungal treatment without evidence of clinical disseminated disease for 6 months, but died after a generalised tonic-clonic seizure. Post-mortem examination revealed multiple foci of inflammatory granulomatous infiltrate and algae-like structures in the brain, lumbar intumescence and cauda equina. Prototheca zopfii was identified using molecular biology methods.
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PMID:Paraparesis as initial manifestation of a Prototheca zopfii infection in a dog. 2450 3

A 66-year-old woman presented with intermittent paraparesis and generalized tonic-clonic seizure. Cerebral angiography demonstrated dural arteriovenous fistula (AVF) involving superior sagittal sinus (SSS), which was associated with SSS occlusion on the posterior one third. The dural AVF was fed by bilateral middle meningeal arteries (MMAs), superficial temporal arteries (STAs) and occipital arteries with marked retrograde cortical venous reflux. Transfemoral arterial Onyx embolization was performed through right MMA and STA, but it was not successful, which resulted in partial obliteration of dural AVF because of tortuous MMA preventing the microcatheter from reaching the fistula closely enough. Second procedure was performed through left MMA accessed by direct MMA puncture following small decortications of cranium overlying the MMA using diamond drill one week later. Microcatheter could be located far distally to the fistula through 5 F sheath placed into the MMA and complete obliteration of dural AVF was achieved using 3.9 cc of Onyx.
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PMID:Transcranial direct middle meningeal artery puncture for the onyx embolization of dural arteriovenous fistula involving the superior sagittal sinus. 2567 45

A 16-year-old male presented at Bangur Institute of Neurosciences Neurosurgery Outpatient Department with history of gradually progressive paraparesis for 5 months associated with stiffness, urinary hesitancy, and urge incontinence for last 2 months. Magnetic resonance imaging spine was done which showed cystic intradural extramedullary space occupying lesion at D4/D5 to D9. Patient had 2 episodes of generalized tonic-clonic seizure on the day 4. Computed tomography scan showed pneumocephalus. Histopathological examination report was that of nonspecific inflammatory cyst.
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PMID:Pneumocephalus following Dorsal Laminectomy: An Unusual Complication. 2911 9