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)

A 5-year-old girl developed a progressive febrile neurological illness consisting of right focal seizures, right hemiparesis, and stupor evolving over a period of six weeks. During the month preceding the onset of her illness she had received two apparently unsuccessful smallpox vaccinations without a skin lesion. Elevation of cerebrospinal fluid gamma globulin and findings on brain biopsy were consistent with postinfectious encephalitis, and a simultaneous increase in serum vaccinia antibody titer suggested that the illness was postvaccinial encephalitis. Clinically, the child developed a severe extrapyramidal movement disorder during the acute phase followed by nine months of stuporous unresponsiveness, yet subsequently made a substantial recovery.
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PMID:Postvaccinal encephalomyelitis without cutaneous vaccination reaction. 3 58

Propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with movement disorder of unknown etiology.
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PMID:Adult-onset chorea and dementia with propionic acidemia. 279 56

Chronic acquired hepatocerebral degeneration (CAHD) is a heterogeneous disorder that can occur with a primary neurologic, hepatic, or combined presentation. Little has been added to the understanding of this disorder since the detailed, early clinical and pathological descriptions. The spectrum of clinical presentations can be neuropsychiatric (apathy, lethargy, excessive somnolence), a movement disorder (ataxia, tremor, chorea, parkinsonism, myoclonus, dystonia), or both. Cortical laminar necrosis and polymicrocavitation in the cortex and basal ganglia are combined with cerebral and cerebellar atrophy. Microscopically, Alzheimer type II astrocytes and cytoplasmic glycogen granules are characteristic. Recent neuroradiological observations in patients with liver failure have shown a specific magnetic resonance (MR) imaging appearance with a hyperintense T1 signal in the pallidum, putamen, and, rarely, mesencephalon. Using clues from a similar MR appearance in patients receiving total parenteral nutrition as well as animals given parenteral manganese, and the knowledge that manganese is cleared by the hepatobiliary system, deposition of manganese in the brain is postulated in patients with CAHD. In this review we describe three cases of CAHD with detailed clinical and radiological documentation and discuss the aforementioned pathogenetic mechanisms.
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PMID:Chronic acquired hepatocerebral degeneration: case reports and new insights. 886 9

Lethargic mutant mice carry a mutation in the CCHB4 gene, which encodes the beta4 subunit of voltage-regulated calcium channels. These mutants have been shown to display a complex neurobehavioral phenotype that includes EEG discharges suggestive of absence epilepsy, chronic ataxia, and hypoactivity. The current studies demonstrate a fourth element of their phenotype, consisting of transient attacks of severe dyskinetic motor behavior. These attacks can be triggered by specific environmental and chemical influences, particularly those that stimulate locomotor activity. Behavioral and EEG analyses indicate that the attacks do not reflect motor epilepsy, but instead resemble a paroxysmal dyskinesia. The lethargic mutants provide additional evidence that calcium channelopathies can produce paroxysmal dyskinesias and provide a novel model for studying this unusual movement disorder.
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PMID:Paroxysmal dyskinesias in the lethargic mouse mutant. 1222 73

To report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic-spectrum disorder (ASD) according to DSM-IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished from their typical DS peers using the ABC. Cross-sectional design. Cases with DS + ASD (N = 61), comparison group of DS + stereotypy movement disorder (SMD) (N = 26) and typical DS controls without behavior problems (N = 44) were ascertained and enrolled sequentially upon presentation to a DS clinic at an academic medical center over a 10-year period from 1991 to 2001. All subjects underwent neurodevelopmental and medical evaluation, and standardized cognitive testing. The parents provided responses to standardized behavioral questionnaires. Cognitive function (IQ) differed markedly across the three groups. The Lethary and Stereotypy subscales of the ABC were highly significant (P < 0.001) in distinguishing the three groups from one another. Within the ASD group differences were apparent by DSM-IV type on the Lethargy subscale, which reached significance, ANOVA (F = 0.002) and t-test (Autism > PDD, P = 0.005; PDD < CDD, P = 0.002). Using a multivariate regression model, the ABC scales alone explained 62% of variance of ASD outcome; addition of demographic variables explained up to 68% of the variance. There is good correlation between DSM-IV criteria for autism and subscales scores on the ABC in subjects with DS. This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes.
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PMID:Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. 1575 62

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; approximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.
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PMID:Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. 1695 28

Acute movement disorder associated with reversible bilateral basal ganglia lesions is an increasingly recognized syndrome in patients with end-stage renal disease, especially in the setting of concurrent diabetes mellitus. We report an elderly man with end-stage diabetic nephropathy treated by daily automated peritoneal dialysis who developed subacute symptoms of gait disturbance, dysarthria, dysphagia and lethargy. Computed tomography and magnetic resonance imaging of the head revealed bilateral symmetrical basal ganglia lesions. Repeat imaging 3 weeks later showed that these lesions had regressed spontaneously. However, his neurological symptoms improved slowly. These findings were similar to 23 other cases in the literature. Review of these cases shows that clinical features were predominantly bradykinesia, gait disturbance and concurrent metabolic acidosis (observed in 90% of cases). The pathogenesis of this condition has not been clearly defined, but uraemia may be an aggravating factor in predisposed patients, particularly in the presence of diabetic microvascular disease. There is no specific treatment for this condition; supportive measures are the mainstay of management. In the majority of patients, neurological improvement lags behind regression of basal ganglia lesions seen with neuroimaging, and the long-term outcome is variable.
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PMID:Bilateral basal ganglia lesions in patients with end-stage diabetic nephropathy. 1819 7

We present a case of recurrent bouts of irritability with arching, head extension, and lethargy in a previously healthy 10-month-old girl admitted to the PICU for acute onset of a movement disorder. The patient's vital signs and physical examination were unremarkable but recurrent bouts of abnormal movements persisted for the first 10 hours of admission in the PICU. Possible diagnoses, such as meningitis, status epilepticus, space occupying lesions, and toxic ingestions, were ruled out because of negative cerebrospinal fluid analysis, normal EEG, and negative results of other ancillary tests. On the second day of admission, an abdominal radiograph was obtained because intussusception was considered a probable diagnosis due to recurrent episodes of arching and lethargy. The abdominal radiograph revealed the presence of a 15-mm radiopaque foreign body in the right lower quadrant corresponding to the anatomic location of the ileocecal valve. The patient made an uneventful recovery after she spontaneously passed a 1.5 cm by 1 cm rock (15 mm) in her stool on the third day of admission. This case highlights the need for a high index of suspicion for unwitnessed ingestion of a foreign body in a previously healthy preschool child with sudden onset of a movement disorder.
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PMID:Movement Disorder Associated With Foreign Body Ingestion. 2829 82