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)

We reported a clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia. She was well until 3 days prior to first admission in local hospital. Two days prior to admission, she began to vomit. Twelve hours later, she was noted to be lethargic and developed malaise with frequent vomiting. At physical examination on admission, she had frequent fits and her posture was decerebrate rigidity. Consciousness disturbance continued for two weeks. Thereafter, she became severely handicapped with spastic quadriplegia, mental retardation and intractable epilepsy. She was transferred to our hospital one month later. We cared her totally and carefully with our rehabilitation staff, but during her course several rare happening occurred; she suffered from subdural hemorrhage due to hypocupremia and received an operation for the release of contracture of her hips. She died of acute cardio-respiratory failure at 8 years and 5 months of age. Her autopsy findings were characteristic of the damage to an immature brain during development; cactus formation of cerebellar cortex and periventricular leukomalacia.
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PMID:[A clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia]. 138 94

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

Perceptions by staff of the classes of reinforcers and aberrant behaviors of a sample of 470 people with predominantly severe or profound mental retardation were explored. Principal components analysis of a 45-item survey suggested eight classes of reinforcers: consumable, verbal-speaker, visual-motor, social, physical-contact, passive-observer, play, and academic reinforcers. Stepwise multiple regression was used to predict five classes of maladaptive behaviors as measured by the Aberrant Behavior Checklist (irritability, lethargy, stereotypy, hyperactivity, and inappropriate speech) from the eight classes of reinforcers. Each class of psychopathology was related to a unique set of predictors. All classes of psychopathology could be predicted by staff perceptions of underresponsiveness to social reinforcers and overresponsiveness to consumable reinforcers. The findings of organized structures of reinforcers and their covariation with pathological behaviors have implications for research and intervention as well as theoretical value in defining aberrant behaviors in people with mental retardation.
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PMID:Staff perceptions of reinforcer responsiveness and aberrant behaviors in people with mental retardation. 159 66

Two siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria are reported. The clinical picture included protein intolerance, mental retardation, seizures, and stuporous episodes. One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. Isolated liver mitochondria in the patient revealed that ornithine transport and citrulline synthesis were decreased, but urea cycle enzymes and ornithine aminotransferase were normal. Ornithine metabolism was decreased in cultured skin fibroblasts.
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PMID:Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. 367 Jun 19

The development of a scale to assess drug and other treatment effects on severely mentally retarded individuals was described. In the first stage of the project, an initial scale encompassing a large number of behavior problems was used to rate 418 residents. The scale was then reduced to an intermediate version, and in the second stage, 509 moderately to profoundly retarded individuals were rated. Separate factor analyses of the data from the two samples resulted in a five-factor scale comprising 58 items. The factors of the Aberrant Behavior Checklist have been labeled as follows: (I) Irritability, Agitation, Crying; (II) Lethargy, Social Withdrawal; (III) Stereotypic Behavior; (IV) Hyperactivity, Noncompliance; and (V) Inappropriate Speech. Average subscale scores were presented for the instrument, and the results were compared with empirically derived rating scales of childhood psychopathology and with factor analytic work in the field of mental retardation.
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PMID:The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects. 399 94

Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy.
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PMID:The EEGs of infants with citrullinemia. 399 77

The adult type of neuronal ceroid lipofuscinosis (NCL) occurred in a 49-year-old man and his 51-year-old sister. They showed episodic stuporous and psychotic states, mental retardation, generalized convulsions, and ichthyosis vulgaris. At autopsy the woman had excessive accumulation of lipofuscin throughout the CNS. The degree of neuronal lipopigment accumulation was very severe in the neurons of the thalamus, substantia nigra, inferior olivary nuclei, motor nuclei of the brain stem, and cerebral cortex. Mental symptoms, such as stupor, excitement, hallucinations, and delusions, were the predominant clinical manifestations and so were misdiagnosed as schizophrenia. Though the clinical diagnosis of the adult type of NCL (Kufs' disease) is difficult because of its wide variety of manifestations, symptoms such as episodic psychotic and stuporous states accompanied by convulsive disorders with mild neurologic signs may be an indication of this disease.
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PMID:Familial occurrence of adult-type neuronal ceroid lipofuscinosis. 647 18

The total content of zinc in the adult human body averages almost 2 g. This is approximately half the total iron content and 10 to 15 times the total body copper. In the brain, zinc is with iron, the most concentrated metal. The highest levels of zinc are found in the hippocampus in synaptic vesicles, boutons, and mossy fibers. Zinc is also found in large concentrations in the choroid layer of the retina which is an extension of the brain. Zinc plays an important role in axonal and synaptic transmission and is necessary for nucleic acid metabolism and brain tubulin growth and phosphorylation. Lack of zinc has been implicated in impaired DNA, RNA, and protein synthesis during brain development. For these reasons, deficiency of zinc during pregnancy and lactation has been shown to be related to many congenital abnormalities of the nervous system in offspring. Furthermore, in children insufficient levels of zinc have been associated with lowered learning ability, apathy, lethargy, and mental retardation. Hyperactive children may be deficient in zinc and vitamin B-6 and have an excess of lead and copper. Alcoholism, schizophrenia, Wilson's disease, and Pick's disease are brain disorders dynamically related to zinc levels. Zinc has been employed with success to treat Wilson's disease, achrodermatitis enteropathica, and specific types of schizophrenia.
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PMID:Zinc, the brain and behavior. 708 16

Maple syrup urine disease (MSUD) is a rare heritable enzyme defect associated with mental retardation. A diet deficient in the branched-chain amino acids is essential for survival. Patients with MSUD are at risk of ketoacidotic metabolic crises brought on by catabolic states, including simple infection or fasting. Delayed diagnosis and therapy can predispose these patients to loss of the gag reflex, lethargy, seizures, and feeding problems. Ultimately, this may result in aspiration and respiratory arrest, which, in turn, can cause cerebral palsy. Of seven cases of MSUD reviewed at The Hospital for Sick Children, two developed spastic diplegic cerebral palsy because of these sequelae. These two patients are similar to other patients with cerebral palsy. Despite special diet, healing of surgical wounds and fractures in patients with MSUD is normal. Simple precautions allow uncomplicated surgery and recovery, even though catabolic states can easily trigger acute ketoacidotic metabolic crises in these patients. The patients with MSUD discussed did not have an increased risk of infection.
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PMID:Cerebral palsy associated with maple syrup urine disease. 710 73

Child abuse by whiplash-shaking can lead to severe injury in infants, including cerebral damage, neurological defects, blindness, and mental retardation. These findings are seen often without external evidence of head injury. Nurses should suspect shaken baby syndrome (SBS) in infants less than 1 year of age who present with apnea, seizures, lethargy or drowsiness, bradycardia, respiratory difficulty, coma, or death. Subdural and retinal hemorrhages accompanied by the absence of external signs of trauma are hallmarks of the syndrome.
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PMID:Shaken baby syndrome: a nursing perspective. 771 67


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