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)

Galenic A-V fistulas typically result in hydrocephalus and increased cerebral venous pressure, with symptoms of progressive seizure activity, chronic cardiac failure and failure to thrive. Surgery and arterial embolization have been only partially successful in reducing flow through these shunts. The authors present technical details of a procedure for embolizing such lesions via a transtorcular venous approach. Early results in 15 patients are reported: Twelve patients appear to have had significant symptomatic improvement; two have died of persistent heart failure, and one died of a subdural hematoma associated with ventriculostomy.
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PMID:Gianturco coil embolization of vein of Galen aneurysms: technical aspects. 322 31

Munchausen syndrome by proxy (MSBP) is a form of child abuse wherein the mother falsifies illness in her child through simulation and/or production of illness, and presents the child for medical care, disclaiming knowledge as to etiology of the problem. From the literature, 117 cases of MSBP were reviewed. The most common presentations of MSBP were bleeding, seizures, central nervous system depression, apnea, diarrhea, vomiting, fever, and rash. Short-term morbidity rate was 100%; long-term morbidity rate was 8%. Mortality rate was 9%. Failure to thrive was associated with MSBP in 14% of cases. All perpetrators of MSBP were the mothers. The origins of this type of aberrant maternal behavior remain abstruse, as do the long-term psychological effects on the child victims. Guidelines for medical, social service, and legal management are provided.
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PMID:Web of deceit: a literature review of Munchausen syndrome by proxy. 213 91

We report the neurological findings in two children with AIDS and one child with lesser AIDS. The first patient developed acute encephalopathy 37 months after having received a blood transfusion from a HTLV-III positive donor. CCT showed ring-enhancement and hypodense lesions with homogenous enhancement. Autopsy revealed CNS toxoplasmosis. The second child with AIDS, born to an iv drug-addicted mother, had one seizure at four months of age, but other neurologic signs were absent. She died of pneumonia due to Pneumocystis carinii at seven months of age. Postmortem examination of the brain revealed extensive nerve cell damage in the cerebral cortex and cerebellum, probably due to terminal hypoxemia and not AIDS-related. In both children clinical features of childhood AIDS like failure to thrive, lymphadenopathy, oral thrush and chronic pulmonary infiltrates were absent. The hallmark of the third child's clinical course was a progressive loss of psychomotor abilities with onset of the neurological symptoms nine months before other signs of AIDS occurred. AIDS should be suspected or excluded in children at increased risk for AIDS presenting with either acquired atypical CNS infection or unexplained developmental regression, even in the absence of other clinical symptoms of pediatric AIDS.
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PMID:Neurological manifestations in three German children with AIDS. 347 44

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.
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PMID:Interstitial deletion of chromosome 2 (p23p25). 347 99

The upper-gastrointestinal examinations of 32 patients (mean age, 11 years) with histologically proven Barrett's esophagus were reviewed to evaluate the radiologic findings in children. All patients had symptoms of chronic gastroesophageal reflux and/or esophagitis, including atypical findings such as aspiration pneumonia, seizures, and failure to thrive. Fourteen patients had other diseases that might predispose them to abnormal esophageal motility and gastroesophageal reflux. Twenty-five patients had single-contrast and seven patients had double-contrast examinations. Four patients had normal single-contrast studies; 24 had gastroesophageal reflux; 12 had strictures; 10 had esophageal ulcers; and only four had hiatal hernias. The most notable difference between the results of endoscopy and the upper-gastrointestinal studies was the rate of detection of esophageal ulcers. Ten of the patients with single-contrast studies had ulcers seen at endoscopy but not shown radiologically. No specific radiologic signs of Barrett's esophagus were found, although most of our patients had abnormal upper gastrointestinal studies.
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PMID:Radiographic findings in children and young adults with Barrett's esophagus. 349 14

Six of 83 asphyxiated neonates showed a diffuse increase of echodensity in bilateral thalami with or without other lesions in the basal ganglia on sonographic examination. The thalamic image still had a fairly high echogenecity compared with the surrounding brain parenchyma on follow up examination and was hence termed the bright thalamus. These six patients had a poor neurological outcome, including psychomotor retardation, spastic diplegia or quadriplegia, microcephaly, failure to thrive, seizures, and one death. The bright thalamus is not an occasional or an isolated sonographic finding of hypoxic-ischaemic encephalopathy, but it may serve as a landmark of severe hypoxic brain damage with adverse outcome.
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PMID:Sonographic finding of the bright thalamus. 353 29

We evaluated 31 consecutive patients, including 11 children, with creatine kinase variants (CKV) in our laboratory during a year. All had a clinical history of central hypotonia with myocardial damage resulting in severe central hypoxia. Seven of the 11 were neonates and had Apgar scores of 2.8 (SD 2.3) at 1 min and 4.8 (SD 2.4) at 5 min, which reflected their severe birth hypoxia. For the seven neonates, the mean value for total serum creatine kinase (EC 2.7.3.2; CK) was 773 (SD 553) U/L. The mean percentage CKV was 20.7% (SD 12.5%). The other four children were being evaluated for failure to thrive; all had birth asphyxia with residual cerebral palsy and seizure activity. These older children had a lower percentage of CKV (7.3%, SD 1.01%) than did the neonates, but the total CK (725, SD 1335 U/L) was not significantly different. In four neonates there was a three- to 20-day delay in the appearance of CK variant, which followed a marked increase in total CK activity. Tissue necrosis is apparently an important factor in the pathogenesis of Type I CK variant.
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PMID:Creatine kinase variant type I in children with anoxic insult. 395 19

Poisoning is an uncommon manifestation of child abuse. The intentional administration of water to a child as a form of punishment has rarely been reported as the responsible substance among children who have been poisoned. We describe a case of a 5-year-old girl presenting with severe hyponatremia due to acute water intoxication. The patient was brought to the emergency room in status epilepticus. A history was obtained from the child's mother stating that the patient had been playing outside when she collapsed. She had had no known prior illnesses. Laboratory evaluation included a hemoglobin of 10.1 mg%, glucose of 60 mg%, serum sodium of 107 mEq/l, potassium of 3.2 mEq/l and chloride of 71 mEq/l. A CAT scan obtained approximately 1 h after admission revealed generalized cerebral edema. Careful examination of the skin revealed multiple linear ecchymosis of varying ages on the back and thighs and a hand print on the right flank. In addition, the child demonstrated severe failure to thrive with height, weight and bone age compatible with a 2.5-year-old girl. Appropriate therapy for severe hyponatremia was successfully instituted. For the next 12 h she was deeply somnolent, but the following morning was alert and conversant. She stated that she "would be good if she didn't have to drink any more water". The child's mother subsequently admitted that she frequently used water ingestion as a form of punishment. The child stabilized metabolically and demonstrated rapid in-hospital weight gain. She was placed in foster care at discharge and has had no further hyponatremia or seizures.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Hyponatremic seizures as a presenting symptom of child abuse. 395 93

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
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PMID:Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 625 6

A six-year-old boy presented with a history of seizures, progressive neurologic deterioration, and proteinuria. Physical examination revealed mildly coarse facies, failure to thrive, generalized hypotonia with muscle wasting, and optic atrophy; there was no organomegaly. The family history suggested an X-linked recessive inheritance. The electroencephalogram, electroretinogram, evoked potentials, and computed axial tomography of the brain were abnormal. Urine oligosaccharide chromatography, urine amino acids and organic acids, and results of leukocyte and fibroblast lysosomal-enzyme assays for the known storage diseases were normal; however, conjunctival and renal biopsy specimens contained enlarged lysosomes on electron microscopy. The patient had progressive neurologic deterioration and died of renal failure at eight years of age. A compound identified as glutamyl ribose-5-phosphate was purified from the brain (0.96 mumol per gram, wet weight) and kidney (0.60 mumol per gram, wet weight). This compound is the linkage group in ADP-ribosylation of proteins, an important regulatory process in gene expression and DNA repair. We believe this new disorder represents a glycoproteinosis that results in the cytoplasmic storage of glutamyl ribose-5-phosphate.
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PMID:Progressive neurologic deterioration and renal failure due to storage of glutamyl ribose-5-phosphate. 673 1


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