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)

Bilateral cervical posterior rhizotomy of C1 through C4, C5 or C6 was performed in 16 patients affected by dystonia and athetosis resulting from infantile cerebral palsy. The majority showed decreased muscle spasms and athetoid movements, with some improvements in their posture and voluntary mobility. 5 patients suffered from uneven and irregular breathing associated with lethargy immediately postoperatively, and 4 also showed reduced diaphragmatic activity; all 4 of these patients developed pneumonia, transitory in 3, but fatal to the other. Urinary retention lasting for a maximum of 3 months occurred in 4 of the 5 patients. The authors suggest that the lesion of ascending reticular fibers in the cervical posterior roots could have been responsible for the observations.
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PMID:Bilateral cervical posterior rhizotomy: effects on dystonia and athetosis, on respiration and other autonomic functions. 66 10

Dantrium and Valium were compared in 22 children manifesting various degrees of spasticity. Treatment brought definite improvement in spasticity and in activities of daily living in 20 of the 22 patients. The two-part double-blind study showed that Dantrium was most effective in nine and Valium in seven cases. In four cases the drugs appeared to be equally beneficial. The combination of Dantrium and Valium appeared to be more effective in eight patients than either medication along, the greatest effect being seen in the upper extremities and about the hip joints. Patients on placebo showed no significant change. Side effects of lethargy and drowsiness on the combination were not bothersome after a short period of acclimation. The results indicate that the spasticity of cerebral palsy can be relieved significantly, and that the combination of peripherally and centrally acting agents is more beneficial than either medication alone.
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PMID:Medical treatment for spasticity in children with cerebral palsy. 79 60

The children were admitted over a 14-year period (1975-1988) from an admission area of average Danish population distribution. The incidence was 15.5/100,000 children per year. The area had endemics of meningococcal disease in the years 1983-1984. The etiology was meningococcal in 43%, Hemophilus influenzae in 33% and pneumococci in 9% of the patients. Regardless of etiology, the antibiotic schedule was ampicillin 400 mg/kg body weight/day. Resistance to ampicillin was not found in any of the bacterial cultures. Within two weeks before admission 59% of the children had experienced a febrile illness. The diagnosis of meningitis was missed before admission in 24% of the cases. On admission, 93% had typical clinical signs of meningitis. 87% were lethargic or comatose. 31% had convulsion and in 13% the peripheral circulation was compromised. Recrudescence was suspected in one patient. Sequelae were most commonly found in children with meningococcal meningitis and were persistent in 23% of all the children. Severe or less severe neurological handicaps were seen in 29% (psychomotor retardation, epilepsy, cerebral palsy and hearing loss). One patient with Waterhouse-Friederichsens syndrome died. Thus the overall mortality was 1.2%, which is low compared to treatment results reported by others.
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PMID:[Purulent meningitis in childhood. Treatment results in 87 children between 7 month and 15 years of age]. 200 Jun 65

Patchy fibrin is normally present beneath the chorionic plate of the placenta. The present study attempted to determine whether it has any clinical significance. In 31,622 placentas the amount of this fibrin was related to markers of fetal activity. Fibrin was often absent when the markers indicated hypoactivity. The markers of fetal hypoactivity were neonatal hypotonia, neonatal lethargy, the presence of Down's syndrome, and a short umbilical cord. Umbilical cord length is strongly influenced by tension applied to it by fetal movements--the fewer the movements, the shorter the cord. Children with no subchorionic fibrin subsequently had increased frequencies of cerebral palsy and low intelligence quotient values. Children who were hyperactive at one year of age had increased levels of subchorionic fibrin, which suggests that they were hyperactive before birth. All of these findings raise the possibility that normal fetal movements sometimes traumatize the placenta, which leads to fibrin deposits beneath its surface.
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PMID:The clinical significance of absent subchorionic fibrin in the placenta. 237 74

School performance testing was completed at 8 years of age on 145 children who had had neonatal encephalopathy associated with birth asphyxia as term infants and on a comparison peer group of 155 children. The prospectively identified clinical categories of encephalopathy for the neonates were 56 mild (hyperalertness, hyperexcitability), 84 moderate (lethargy, hypotonia, suppressed primitive reflexes), and 5 severe (stupor, flaccidity, absent primitive reflexes). The mortality rate to 8 years of age was 13%. The incidence of impairment, which included cerebral palsy, blindness, cognitive delay, convulsive disorder, and severe hearing loss, was 16% among those assessed at 8 years (75% of survivors). Intellectual, visual-motor integration, and receptive vocabulary scores, as well as reading, spelling, and arithmetic grade levels for those with moderate or severe encephalopathy, were significantly below (p less than 0.01) those in the mild encephalopathy or peer comparison groups. Predictors of reading performance for the study group included category of encephalopathy, birth weight for gestational age, native language, and mother's educational level (multiple R = 0.58). Nonimpaired survivors of moderate encephalopathy were more likely to be more than one grade level delayed than were children from the peer group (reading 35% vs 15%, spelling 18% vs 8%, arithmetic 20% vs 12%, p less than 0.01). Thus children who had moderate and severe neonatal encephalopathy are at risk for physical and mental impairment and reduced school performance. Children with mild encephalopathy had school performance scores similar to those of their peers.
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PMID:School performance of survivors of neonatal encephalopathy associated with birth asphyxia at term. 246 89

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

Ornithine transcarbamylase deficiency (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, vomiting and cerebral edema. While in newborn males OTCD presents with hyperammoniemia leading to cerebral palsy with profound neurological impairment and eventually death, in women who are healthy carriers, it is possible to detect the disorder only through specific tests, since heterozygote women are rarely symptomatic. We describe the case of a young woman admitted to the hospital after an episode of mental confusion with vomiting and psychomotor restlessness, which had previously occurred several times during the premenstruum and lasted a few hours. A 2 day history of stupor made admission mandatory. Tests carried out during the hospital stay showed marked hyperammoniemia and unconjugated hyperbilirubinemia, marked cerebral edema documented by a CT scan. Liver biopsy and CSF test were normal. Screening of plasma and urinary aminoacids, level of orotic acid in the urine and OTC activity in the liver, confirmed the diagnosis of OTCD. The possibility of early diagnosis and therapy of a disease which otherwise leads to death, emphasizes the importance of precise evaluation of a possible organic cause of anorexia and behaviour disorders in young women.
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PMID:Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency. 828 23

Medium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein essential for the beta-oxidation of medium chain fatty acids. MCAD deficiency (MCADD) is an inherited error of fatty acid metabolism. The gene for MCAD is located on chromosome one (1p31). One variant of the MCAD gene, G985A, a point mutation causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD protein, has been found in 90% of the alleles in MCADD patients identified retrospectively. There is a high frequency of MCADD among people of Northern European descent, which is believed to be due to a founder effect. MCADD is inherited in an autosomal recessive manner. Of patients clinically diagnosed with MCADD, 81% who have been identified retrospectively are homozygous for K304E, and 18% are compound heterozygotes for K304E. Clinical data on the probability of clinical disease indicates that MCADD patients are at risk for the following outcomes: hypoglycemia, vomiting, lethargy, encephalopathy, respiratory arrest, hepatomegaly, seizures, apnea, cardiac arrest, coma, and sudden and unexpected death. Long-term outcomes include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit disorder (ADD). Differences in clinical disease specific to allelic variants have not been documented. Factors that may increase risk for disease onset or modify disease severity are age when the first episode occurred, fasting, and presence of infection. Acute attacks must be treated immediately with appropriate intravenous doses of glucose. For those diagnosed, long-term management of the disease includes preventing stress caused by fasting and maintaining a high-carbohydrate, reduced-fat diet, and carnitine supplementation. Hospitalization costs attributable to morbidity and mortality from MCADD are unknown; MCADD is not a diagnosis in the International Classification of Disease, 10th Revision (ICD-10) codebook. Furthermore, the penetrance of the MCAD genotypes is unknown; there appears to be a substantial number of asymptomatic MCADD individuals and some uncertainty regarding which individuals will manifest symptoms and which individuals will remain asymptomatic. Several technologies are available to detect MCADD. Diagnostic technologies include DNA-based tests for K304E mutations using the polymerase chain reaction (PCR), and the detection of abnormal metabolites in urine. Screening technologies include tandem mass spectrometry (MS/MS), which detects abnormal metabolites mostly in blood. State programs are beginning to offer screening in newborns for MCADD using MS/MS. In addition, a private company currently offers voluntary supplemental newborn screening for MCADD to birthing centers.
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PMID:Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. 1126 45

Kernicterus is a preventable life-long neurologic syndrome caused by severe and untreated hyperbilirubinemia during the neonatal period. High levels of bilirubin are toxic to the developing newborn. In full-term infants, hyperbilirubinemia symptoms include severe jaundice, lethargy, and poorfeeding. Features of kernicterus may include choreoathetoid cerebral palsy, mental retardation, sensorineural hearing loss, and gaze paresis. Kernicterus is not a reportable condition in the United States, and its prevalence is unknown; however, a pilot registry at a Pennsylvania hospital documented 90 cases in 21 states from 1984 to June 2001 (L. Johnson, Pennsylvania Hospital, Philadelphia, personal communication, 2001). This report summarizes case histories of four full-term, healthy infants who developed kernicterus and underscores that to prevent kernicterus, newborns must be screened and promptly treated for hyperbilirubinemia.
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PMID:Kernicterus in full-term infants--United States, 1994-1998. 1142 29

Intrathecal baclofen (ITB) therapy can be very effective in the treatment of intractable spasticity, but its effectiveness and safety have not yet been thoroughly studied in children with cerebral palsy (CP). The aims of this double-blind, randomized, placebo-controlled, dose-finding study were to select children eligible for continuous ITB infusion, to assess the effective ITB bolus dose, and to evaluate the effects, side effects, and complications. Outcome measures included the original Ashworth scale and the Visual Analogue Scale for individually formulated problems. We studied nine females and eight males, aged between 7 and 16 years (mean age 13y 2mo [SD 2y 9mo]). Twelve children had spastic CP and five had spastic-dyskinetic CP. One child was classified on the Gross Motor Function Classification System at Level III, two at Level I V, and 14 at Level V. The test treatment worked successfully for all 17 children with an effective ITB bolus dose of 12.5 microg in one, 20 microg in another, 25 microg in 10, and 50 microg in five children. ITB significantly reduced muscle tone, diminished pain, and facilitated ease of care. The placebo did not have these effects. Nine side effects of ITB were registered, including slight lethargy in seven children. Fourteen children had symptoms of lowered cerebrospinal fluid pressure. We conclude that ITB bolus administration is effective and safe for carefully selected children with intractable spastic CP.
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PMID:Intrathecal baclofen in children with spastic cerebral palsy: a double-blind, randomized, placebo-controlled, dose-finding study. 1771 20


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