Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by typical urine odor. The deficiency of branched-chain ketoacid decarboxylase enzyme is responsible for the clinical abnormalities. The classical disease usually manifests in the neonatal period with lethargy, refused feeding, seizures and death. Since 1984, at the Department of Pediatrics, Ramathibodi hospital, 2 patients with classical MSUD have been seen. The parents of one patient were relatives and already had 2 affected but undiagnosed daughters. Both patients had strong urine odor which was described as the odor of boiled Chinese herbal medicine. The first child died at 4 months old and the second was severely retarded at one year old. The importance of early diagnosis and genetic counselling are emphasized.
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PMID:Maple syrup urine disease: case report of 2 Thai infants. 273 31

The effect of kainic acid on extracellular [K+], [Ca2+], and [Na+] in the rat piriform cortex and hippocampus was studied by means of intracranial microdialysis. Either a dialysis fiber loop or horizontal Vita fiber were stereotaxically implanted within the piriform cortex or hippocampus, respectively. About 24 h later, fibers were perfused (1 ml/min) with Krebs-Ringer bicarbonate solution. Effluent samples were collected before (four at 30 min intervals), and after (six at 30 min intervals) administration of kainic acid (16 mg/kg, i.p.) or kainic acid vehicle. Kainic acid induced sequential signs of lethargy, staring, "wet-dog shakes," forepaw clonus, and tonic-clonic convulsions. In these awake free-moving rats, kainic acid induced a rapid and prolonged increase in extracellular [K+] and an apparent, but not statistically significant, decrease in extracellular [Ca2+] within the hippocampus. In the piriform cortex, kainic acid induced increases in extracellular [K+] and [Na+], which were associated with early pre-convulsive signs. In contrast to the pronounced ion changes commonly seen when the brain is activated by factors such as local application of excitatory substances or when the brain is made ischemic or hypoxic, extracellular ion concentrations are relatively well maintained during parenteral kainic acid-induced seizures.
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PMID:Kainic acid-induced seizures: changes in brain extracellular ions as assessed by intracranial microdialysis. 277 Apr 22

A case of an infant suffering from progressive lethargy, sparse scalp hair, autistic-like behavior, myoclonias, and drug-resistant generalized seizures is reported. Laboratory investigations revealed, in the absence of metabolic acidosis, an increased urinary excretion of 2-ketoglutaric acid and a small peak of 3-hydroxyisovaleric acid. The serum biotinidase activity was 0.15 nmol min-1 ml-1 (normal range 5.2 +/- 0.9) in the propositus and 0.310 and 0.420 in her father and mother, respectively. The interictal EEG showed multifocal abnormalities; numerous seizures were recorded, with the pattern of true tonic-clonic fits, exceptional in infancy. Also myoclonias, auditory myoclonus, and repetitive startles were documented. Because of dramatic improvement of all symptoms and signs after starting biotin (5 mg twice daily), the authors suggest a therapeutical trial in all drug-resistant infantile seizures.
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PMID:Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case. 279 32

The role of spinal cord injury in the pathogenesis of abnormal motor signs (depressed tone and reflexes) following severe perinatal hypoxia-ischemia was prospectively evaluated by clinical, electrophysiological, and neuropathological examinations in 18 asphyxiated neonates. All infants had an abnormal mental status (lethargy or coma), and seizures were present in 12. Neuromuscular examinations revealed hypotonia or flaccidity and hyporeflexia or areflexia in all infants. Neuropathological examinations of the cerebrum and spinal cord were conducted in the 12 neonates who expired. Cerebral pathological findings included cortical neuronal necrosis in 10 of 12 and subcortical white matter injury in 5 of 12. All infants with coma or seizures displayed diffuse cortical injury, but no injury conformed to a parasagittal "watershed" distribution. Spinal cord gray matter displayed prominent ischemic necrosis in 5 patients who were typically flaccid and areflexic. Electromyographic examinations of all 6 survivors were abnormal, consistent with recent injury to the lower motor neuron above the level of the dorsal root ganglion. We conclude that ischemic injury to anterior horn cells within spinal cord gray matter is relatively common among hypotonic-hyporeflexic neonates following severe perinatal hypoxia-ischemia. Although the acute neurological syndrome of neonatal asphyxia is often overshadowed by prominent cerebral signs such as coma and seizures, the motor abnormalities may be partially attributed to concurrent spinal cord injury.
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PMID:Hypoxic-ischemic spinal cord injury following perinatal asphyxia. 291 67

Symptomatic hypoglycemia developed 5 to 45 months after transplantation in nine children who had renal transplants before 6 years of age. During hypoglycemia, serum glucose levels ranged from 14 to 39 mg/dl (0.8 to 2.1 mmol/L). Hypoglycemic episodes occurred between 1.7 and 7.5 years of age. Six patients had generalized seizures; the remaining three had diaphoresis with stupor or lethargy. None of the children had serious infections, diabetes, congenital defects of glucose metabolism, or a history of treatment with insulin or oral hypoglycemic agents. Six patients had hypoglycemic symptoms after a prolonged fast, and at least four had ketosis. Eight of the nine patients were receiving propranolol when hypoglycemia occurred. No differences in the daily prednisone dose, the number of transplant rejection episodes, or the frequency of treatment with medications other than propranolol were noted between hypoglycemic patients and 56 normoglycemic age-matched renal transplant recipients. All hypoglycemic patients were subsequently treated with frequent feedings and discontinuation of propranolol. No further hypoglycemic episodes have occurred in eight of nine patients. Symptomatic hypoglycemia should be recognized as a potentially devastating complication of pediatric renal transplantation.
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PMID:Hypoglycemia in pediatric renal allograft recipients. 305 55

A 48-yr-old man with squamous cell carcinoma of the lung, hypercalcemia, and brain metastases with seizures was treated with phenytoin. Constant nasogastric infusion with Osmolyte was begun for hydration and nutritional status, necessitating an increase in his phenytoin dosage. Adequate seizure control and phenytoin levels were obtained on this adjusted regimen. However, on the 16th hospital day, the patient pulled out his nasogastric tube and received two doses of phenytoin without Osmolyte. The patient became lethargic, and his phenytoin level was 53 micrograms/ml. The patient was placed on bolus nasogastric feedings and a lower dose of phenytoin administered between feedings. Adequate seizure control and appropriate phenytoin levels were obtained with no further problems. The recommended management of the phenytoin-enteral feeding interaction is to flush and clamp the nasogastric tube for 2 hr before and 2 hr after the phenytoin dose.
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PMID:Interaction of oral phenytoin with enteral feedings. 308 93

In order to evaluate significance and frequency of valproic acid (VPA)-induced hyperammonemia we measured venous serum ammonia, SGOT, G-GT, platelets and antiepileptic drug levels in three groups of subjects: 1.) 30 pediatric patients treated with VPA, alone or in combination 2.) 30 healthy age and sex matched subjects 3.) 30 pediatric unselected patients treated with various antiepileptic drugs except VPA. In the VPA group serum ammonia was significantly (p less than 0.01) higher than in controls and in the group 3. Patients on VPA-polytherapy had significantly higher serum ammonia values than patients on VPA-monotherapy (p less than 0.01). Hyperammonemia was found in 8 (27%) VPA-treated patients. A syndrome consisting of lethargy, stupor, hypotonia and increased seizure activity developed in 3 patients on VPA-therapy of whom two showed hyperammonemia. After discontinuing VPA this syndrome disappeared in all three cases. There was no direct correlation between VPA and ammonia levels. The etiology of hyperammonemia in VPA treated patients is not yet fully explained. It may be related to the fatal VPA induced hepatic failure reported in the literature. Some risk factors which may facilitate hepatic injury during VPA therapy (young age, co-medication, polytherapy, infectious disease, protein overload, low caloric intake) are discussed and some practical consequences are indicated.
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PMID:[Hyperammonemia in valproate therapy in children and adolescents]. 308 61

Clinical and laboratory data on 46 patients with acute bacterial meningitis were analyzed in a retrospective survey. The incidence of bacterial meningitis in hospital admissions was 1.3% and the mortality 33%. Streptococcus pneumoniae was the most frequent etiologic agent. Mortality was highest for pneumococcal meningitis and was higher in patients over 50 years of age (83% vs 25%, p less than 0.05). The initial stage of consciousness was prognostically important. All awake patients survived, while the more impaired the consciousness (from lethargy to coma), the higher the mortality (19%, 25%, and 78% respectively). Seizures and paresis of the third cranial nerve were significantly higher in lethal cases. Brain edema was the leading cause of death (60%). The interval between hospital admission and start of antibiotic treatment was crucial for prognosis. Patients who received the first dose of antibiotics within 3 hours after admission had a mortality of 13%, while a delay of 6-24 hours increased the mortality to 3/3.
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PMID:[Prognostic factors in bacterial meningitis in adults. Retrospective analysis of 46 patients]. 311 39

A 12-year-old girl presented with weakness, diplopia, and lethargy after a prodrome of gastroenteritis. Laboratory studies were compatible with a diagnosis of hemolytic uremic syndrome. She developed seizures that were controlled by diphenylhydantoin and valium. In spite of peritoneal dialysis and fresh frozen plasma infusions, she progressed to a left hemiplegia associated with a brain scan finding of decreased blood flow in the right middle cerebral artery perfusion area. A 5 liter whole blood exchange transfusion did not improve the neurological status or low platelet count. Daily plasma exchanges with fresh frozen plasma replacement resulted in normal platelet count within 48 hours and was followed by progressive improvement in neurological status. Platelet agglutinating factor decreased to control levels. A repeat brain scan was normal.
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PMID:Reversal of central nervous system involvement in hemolytic uremic syndrome by use of plasma exchanges. 311 70

A 5-year-old 20-kg boy developed grand mal seizures following application of 2 mL of tetracaine-adrenalin-cocaine to an oral mucosa laceration. Diazepam 6 mg IV followed by 195 mg phenobarbital was required to terminate the seizures. The patient was transferred to a pediatric intensive care unit for further evaluation and treatment. A toxicology screen obtained after transfer was positive only for diazepam and phenobarbital. The child remained lethargic for several hours but otherwise had a normal neurological examination. Brain computed tomography was normal. Anticonvulsant medication was discontinued prior to discharge and the child had no subsequent seizures.
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PMID:Recurrent seizures following mucosal application of TAC. 313 66


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