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)

We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10-methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.
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PMID:5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case. 393 30

Seven cases of femoral fractures in head-injured children with spasticity and/or decerebrate posturing and seizures were treated with external fixation. The fractures healed with good alignment, maintenance of length, and without infection. The technique is recommended both for its simplicity and lack of complications relative to other management approaches.
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PMID:Femoral fracture treatment in head-injured children: use of external fixation. 394 33

Paroxysmal sensorimotor phenomena of spinal cord origin are well documented in the literature dealing with multiple sclerosis, but have seldom been identified in other conditions. These seizures are characterized by tonic spasm in the extremities, often accompanied by painful dysesthesias, and are fleeting, usually lasting no more than two minutes. Although they may occur spontaneously, they are commonly precipitated by tactile stimulation or movement of the extremity. These episodes must be clinically differentiated from spasticity as they have been shown to be responsive to anticonvulsants such as carbamazepine (Tegretol). We present two patients admitted to our rehabilitation facility with a diagnosis of idiopathic transverse myelopathy. Clinical and diagnostic evaluation revealed no evidence of multiple sclerosis and follow-up studies for two and one-half years in case 1 and one year in case 2 continued to support the admitting diagnoses. Each patient developed focal sensorimotor phenomena relatively early in the course of the disease which interfered with rehabilitation. Effective treatment was obtained with administration of carbamazepine. Subsequently, both patients developed signs and symptoms of multiple sclerosis. The complication of spinal cord seizures may become a limiting factor in the rehabilitation of patients with idiopathic transverse myelopathy unless the disorder is recognized and appropriate anticonvulsant therapy initiated. It may also be the first indicator that multiple sclerosis rather than "idiopathic" transverse myelopathy is present.
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PMID:Spinal cord seizures in transverse myelopathy: report of two cases. 395 64

Phenytoin (DPH) was evaluated for its capacity to reduce several motor manifestations of decerebrate rigidity in the cat. In doses of the order of 40 to 50 mg/kg i.v., DPH diminished the force necessary to collapse the hyperextended limbs; at about half this dose range, the drug reduced gamma-motoneuron discharges; at still lower doses the drug profoundly depressed mechanical and electromyographic responses evoked by stretch from both forelimb and hindlimb extensor muscles. Serum levels of DPH associated with substantial reduction in electrical and mechanical manifestations of the extensor hypertonus were of the same order conventionally encountered when the drug is administered to humans for acute seizure management. The data are supportive of a centrally and peripherally mediated muscle relaxing effect of the drug in states where muscle spindle involvement is a contributing factor, and may help to explain further the utility of DPH in the treatment of spasticity.
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PMID:Description and analysis of the myotonolytic effects of phenytoin in the decerebrate cat: implications for potential utility of phenytoin in spastic disorders. 396 98

Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the age of 3 and 6 months, respectively. Neuropathologic examination of the brain revealed diffuse demyelination in the cerebral and cerebellar white matter as well as a disturbance of the myelination, especially in the descending pathway. Numerous sudanophilic lipids and glial fibers proliferated in the demyelinated areas. Neurochemically, there was a marked decrease in all lipid components, cholesterol, phospholipids, and glycolipids and an increase in cholesterol ester. Fatty-acid composition of cerebroside and sulfatide, especially that of long-chain acids, was within normal range, unlike the fatty-acid composition found in connatal Pelizaeus-Merzbacher disease. The brain damage in postnatal infant caused by frequent convulsive seizures and the severe demyelination in the cerebral and cerebellar white matter in both patients are discussed. The cases of sudanophilic leukodystrophy and Pelizaeus-Merzbacher disease occurring in children under 5 years of age are reviewed.
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PMID:Postnatal sudanophilic leukodystrophy in two siblings. 402 64

A 12-year-old girl with Rett's syndrome is presented. This syndrome, exclusively reported in girls, is characterized by a normal psychomotor development up to the age of 6 to 18 months, followed by developmental stagnation and then rapid progressive dementia, loss of purposeful use of the hands replaced by stereotypic hand movements, truncal ataxia, spasticity, seizures and microcephaly. The syndrome is not rare; prevalence has been reported as 0.65/10 000 girls.
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PMID:[The Rett syndrome]. 409 98

A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with ataxia, spasticity, choreoathetosis, early-onset seizures (which later ceased), and mild retardation. At age 13 she had developed rapidly progressive generalized weakness and atrophy, indicating peripheral nervous system involvement. Laboratory investigation revealed the presence of sea-blue histiocytes in the bone marrow without evidence of a disorder of sphingolipid metabolism or neuronal ceroid lipofuscinosis. Muscle biopsy showed large- and small-group atrophy, and sural nerve biopsy demonstrated axonal degeneration. This patient's illness appears to be a hitherto undescribed form of "sea-blue histiocytosis" associated with neurological dysfunction in children.
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PMID:A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. 608 45

Using a specific radioimmunoassay we have measured somatostatin-like immunoreactivity (SLIR) of CSF in patients with brain atrophy, spinal spasticity, seizures, brain tumors and inflammatory disorders. Patients with marked brain atrophy had significantly decreased somatostatin levels in CSF. In patients with spinal spasticity significantly higher levels were observed. Seizure patients had reduced levels but the difference was not significant. In patients with inflammatory disorders and malignant brain tumors SLIR levels were significantly elevated but not in patients with benign brain tumors. A possible pathophysiologic meaning of SLIR in spasticity and seizures is discussed. The altered levels in brain atrophy, tumors and inflammatory disorders are probably indirect signs of altered somatostatin turnover or increased somatostatin leakage from damaged CNS.
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PMID:Somatostatin-like immunoreactivity in the cerebrospinal fluid of neurological patients. 612 89

Baclofen is widely used in the treatment of spasticity of spinal origin. It is relatively free of side effects or toxic actions on the nervous system or other organs. Agitation, personality change, and auditory and visual hallucinations have been described following its abrupt withdrawal. One patient with generalized seizures and one with complex partial seizures after baclofen withdrawal have been reported. This paper presents a patient who developed status epilepticus after baclofen withdrawal, and who sustained hypoxic cerebral injury. This observation further emphasizes the possibility of infrequent complications of baclofen therapy, and the advisability of gradual changes in baclofen dosage.
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PMID:Status epilepticus after baclofen withdrawal. 673 10

From 1972-1974, 228 children began treatment for acute lymphocytic leukemia and were prospectively assessed for neurologic complications. After CNS irradiation (2,400 rad) and intrathecal methotrexate (MTX), they received weekly intravenous maintenance therapy with MTX alone (40-60 mg/m2; 20 patients) or MTX (10-30 mg/m2) with other drugs (208 patients). Signs of leukoencephalopathy appeared in 11 children (nine without CNS leukemia) after 4-15 months of IV MTX alone, and included lethargy, seizures, spasticity, paresis, drooling, and dementia. Before or during the clinical onset, EEG frequencies slowed (all ten patients tested). Radionuclide scans showed periventricular accumulation of 99mTc (9/11 patients) and remained abnormal for greater than or equal to six months in eight patients. Cranial computed tomograms or neuropathology findings (five patients each) demonstrated leukoencephalopathy (nine patients) and radiation-related microangiopathy (ten patients). Severe neurologic and neuropsychologic dysfunctions were present in four long-term survivors.
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PMID:Progression of methotrexate-induced leukoencephalopathy in children with leukemia. 693 56


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