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)

Four unrelated patients who had the clinical appearance of Miller-Dieker syndrome, also called lissencephaly syndrome, were studied. All four had a typical clinical course with failure to thrive, severe psychomotor retardation, opisthotonos, seizures, and death early in life. None of these children had lissencephaly, the anticipated central feature of this disorder. One of the four had pachygyria, one had polymicrogyria, and two had both pachygyria and polymicrogyria. The brain weights were normal to decreased. The ventricles were dilated in all cases. The cerebral cortex was thickened in each, with decreased white matter and diminution or distortion of the cellular layers, and there were neuroglial heterotopias. The corpus callosum was partially absent in one and thinned in three. The neuropathy found in these children with Miller-Dieker syndrome suggests a spectrum of gyral anomalies resulting from a single type of embryonic error.
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PMID:A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. 683 90

Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his condition with supplements of oral copper but as soon as these were reduced or stopped hypocupraemia and seizures resumed. Family investigation showed copper deficiency with mild symptoms in the mother and the maternal uncle. The pedigree suggests possible autosomal dominant or X-linked dominant transmission.
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PMID:Familial benign copper deficiency. 712 94

A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.
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PMID:[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report]. 734 41

Bilateral occipital calcifications associated with epilepsy and sometimes with celiac disease have been described previously. A boy with bilateral frontal and occipital diffuse calcifications accompanied by failure to thrive, nephrogenic diabetes insipidus, developmental delay and seizures, but without celiac disease is presented. Follow-up at 3 years of age disclosed neurodevelopmental delay, height and weight less than expected for age, and seizures controlled with carbamazepine. The uncommon association of these features and the early onset of symptoms is discussed. Although bilateral occipital calcifications share some clinical features with bilateral fronto-occipital calcifications, it is arguable whether the two are on a spectrum of a single disease or represent separate entities.
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PMID:Early onset bilateral calcifications and epilepsy. 757 57

Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We herein present the association of a flecked retina with peroxisomal bifunctional enzyme deficiency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of this diagnosis.
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PMID:Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. 762 69

Over a 3-year-period (Dec. 1990-Nov. 1993) 12 children were found PCR-positive for CMV-DNA in CSF and brain biopsies. Three of the patients were immunologically compromised. During the same period CSF samples from 10 shunt-operated children and 143 virological routine CSF samples were PCR CMV negative. Clinical association with positive PCR-CMV reaction was considered likely in 6 patients: two boys developed prolonged fever and meningoencephalitis following neurosurgery, one infant girl had a course compatible with congenital inclusion disease, and three had prolonged fever following transplantation. Clinical association was deemed probable in 3 infant girls: one had neonatal infection, meningitis and intraventricular haemorrhage, one had neonatal encephalitis and failure to thrive, and one with neonatal seizures and encephalitis developed brain atrophy. Clinical association was judged possible in 3 patients: one infant girl with no signs of encephalitis developed brain atrophy, one had an Aicardi Type 1 syndrome and one 2 1/2-year-old boy had an acute encephalitis with insufficient serological support for CMV but was 12 months later PCR positive for CMV. We conclude that CMV may be an overlooked infectious agent of the CNS also in immunocompetent children. PCR aids in rapid diagnosis of CMV infection in the immunocompromised. CMV may occasionally be disclosed with PCR in other conditions as a probably non-relevant observation.
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PMID:Clinical, serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and childhood. 777 Jan 29

Shaken baby syndrome is a less widely recognized form of physical child abuse. It is defined as vigorous manual shaking of an infant who is being held by the extremities or shoulders, leading to whiplash-induced intracranial and intraocular bleeding and no external signs of head trauma; often identifying shaken baby syndrome is difficult because of the lack of obvious external signs. Shaken baby syndrome should be considered in infants with seizures, failure to thrive, vomiting associated with lethargy or drowsiness, respiratory irregularities, coma, or death. With the increased awareness of child abuse, more attention has been focused on morbidity and death caused by the violent shaking of infants. This article describes the clinical findings of shaken baby syndrome, explores the characteristics of families at risk for abuse, and discusses implications for nurse practitioners.
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PMID:Shaken baby syndrome: identification and prevention for nurse practitioners. 815 88

Munchausen's syndrome and Munchausen's syndrome by proxy (MSBP) can cause many conditions, including bleeding problems, seizures, failure to thrive and others. We report here an unusual case in which a mother presented to the hospital for her hemophiliac son's failure to thrive, subsequently for her own self-inflected mutilating wounds, and finally for self-induced simulation of her son's hemophiliac bleeding and arthritic complications.
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PMID:Munchausen syndrome presenting as hemophilia: a convenient and economical "steal" of disease and treatment. 821 34

In situ hybridization of a telomeric (TTA-GGG)n sequence to metaphases from three cases of ring chromosome, involving respectively chromosomes 4, 16, and 20, showed the presence of the cognate sequences in all three rings. To investigate whether these ring chromosomes originated by telomere-telomere fusion, we determined, by in situ hybridization, whether telomere-associated sequences and/or specific distal sequences were still present in the ring chromosomes. The finding that these sequences were preserved in all the ring chromosomes strongly indicates that they originated by telomere-telomere fusion. All three subjects carrying the ring chromosomes are affected by the so-called ring syndrome, with failure to thrive, minor dysmorphic signs and no major anomalies. The r(4) patient has the ring in mosaic form with a normal cell line and has normal intelligence. The r(16) and the r(20) patients have moderate mental retardation and suffer from seizures. We conclude that the ring syndrome, even in its more severe manifestation, is caused by ring chromosome instability.
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PMID:Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. 836 23

The prevalence of developmental disabilities in early childhood is not well documented. An established birth defects registry extended surveillance to identify cases of developmental disorders in early childhood by adding all known sources of diagnosis and service to case-finding methods. Residents of a northwest Arkansas region born during 1985 to 1987 and diagnosed with either a birth defect or a developmental disorder by the 4th birthday comprised the studied cohort. Case records were linked with death certificates to examine the influence of mortality on prevalence ratios. Prevalence ratios estimated were 64.5/1000 resident live births (60.9/1000 among survivors to age 4 years) for either birth defect or developmental disorder, 33.4/1000 for developmental disorder, 37.0/1000 for birth defect, and 9.5/1000 for both developmental disorder and birth defect. Prevalence ratios of specific developmental disorders and the role of mortality in decreasing population prevalence are reported. The most common diagnostic categories in this age group were developmental delay, seizures, and failure to thrive. Overlap of birth defect categories with a diagnosed developmental disability was examined; 68.8% of children diagnosed with neural tube defects and 45.5% of those with chromosomal abnormalities who survived to age 4 years had clinically diagnosed developmental disorders. An anticipated high degree of overlap (77%) for other central nervous system defects was found. For other birth defect categories, developmental disorder diagnosis was present in 20 to 30% of the study group. Death before age 4 years occurred most often when the diagnosis was newborn seizures (17.1%) or "conditions of the brain" (13.6%); the mortality rate was 6 to 8% for epilepsy or seizure disorders, mental retardation, and vision loss. The large number of developmental diagnoses among this cohort indicates that surveillance of these disorders in early childhood, even with tentative diagnoses, is feasible. Data obtained indicate that many birth defects are associated with developmental disorders; potentially, this association can contribute to earlier identification of developmental disorders in childhood.
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PMID:Early childhood surveillance of developmental disorders by a birth defects surveillance system: methods, prevalence comparisons, and mortality patterns. 855 31


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