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  • 1
    Electronic Resource
    Electronic Resource
    Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases (1988)
    Springer
    Virchows Archiv 413 (1988), S. 463-468 
    Details
    ISSN: 1432-2307
    Keywords: Cornelia de Lange syndrome ; Infantile haemangioendothelioma ; Wilms' tumour
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two cases of Cornelia de Lange syndrome associated with infantile haemangioendothelioma of the liver and Wilms' tumour are reported. The patients showed the characteristic facies of the Cornelia de Lange syndrome, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, syndactyly and clinodactyly. Post-mortem examination revealed annular pancreas, patency of the foramen ovale, duodenal atresia and evidence of cytomegalic infection. The cases are reported to document a possible association between malformations and neoplasms in this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00716995
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  • 2
    Electronic Resource
    Electronic Resource
    Partial trisomy of the distal segment of 14q (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 574-576 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The case of a male infant with duplication of the distal segment of chromosome 14q is described. There was an extra chromosomal segment at the distal end of the long arm of chromosome 17. Banding techniques suggested that the extra segment might be the distal segment of chromosome 14q. DNA analysis using probes from distal 14q as well as from other parts of the genome confirmed that the extra segment consisted of the distal part of 14q. Both the proband's parents and his elder sister had normal karyotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210813
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  • 3
    Electronic Resource
    Electronic Resource
    Cranial MRI of neurologically impaired children suffering from neonatal hypoglycaemia (1999)
    Springer
    Pediatric radiology 29 (1999), S. 23-27 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. Metabolic disturbances such as anoxia and hypoglycaemia are important in causing maldevelopment of the neonatal brain. While there have been some pathology studies of the effects of neonatal hypoglycaemia on brain development, reports of MRI findings in such infants have been rare. Objectives. To describe the MRI findings in neurologically handicapped children who had suffered from neonatal hypoglycaemia and to evaluate the relationship between the neurological impairment and neonatal hypoglycaemia. Materials and methods. We retrospectively evaluated the MRI findings in eight full-term infants with neonatal symptomatic hypoglycaemia who later exhibited neurological handicap. The age at which the MRI scans were obtained ranged from 9 months to 8 years 10 months (mean 4 years 1 month, median 4 years). Results. The most striking findings were prolonged T1 weighting and T2 weighting in the parieto-occipital periventricular deep white matter in six patients, suggesting abnormal or delayed myelination. Dilatation of the lateral ventricles, especially of the trigones, was observed in five patients in whom the distance between the posterior horns of the lateral ventricles and the adjacent sulci was reduced. The volume of white matter relative to grey matter was reduced in two patients. In addition, four patients exhibited cerebral cortical atrophy, mainly in the occipital lobe. Conclusions. These findings suggest that neonatal hypoglycaemia may cause delayed or abnormal myelination, especially in the parieto-occipital, periventricular, deep white matter, and may cause cerebral cortical atrophy, especially in the occipital lobe.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050527
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  • 4
    Electronic Resource
    Electronic Resource
    Neonatal subdural hematoma secondary to birth injury (1987)
    Springer
    Child's nervous system 3 (1987), S. 23-29 
    Details
    ISSN: 1433-0350
    Keywords: Subdural hematoma ; Neonate ; Birth injury ; Tentorial tearing ; Intracerebral hematoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to evaluate the treatment and prognosis of subdural hematoma in neonates, we analyzed 48 survivors in the 3-year period January 1979 to December 1981. Based on the CT findings, the hematomas were grouped into four types according to location: type I, localized around the posterior interhemispheral fissure (25 cases, 52%); type II, extending from the posterior interhemispheral fissure to the hemispheric convexity (5 cases, 10%); type III, extending from the incisura to the posterior fossa (15 cases, 31%); and type IV, subdural hematoma accompanied by intracerebral hemorrhage (3 cases, 7%). Intracranial pressure was measured via the anterior fontanel in 13 cases. In 10 cases of extensive hemorrhage, the pressure exceeded 200 mm H2O. The age of the patients was from 0 to 7 days. There were 36 mature (75%) and 12 premature (25%) infants. The mothers were primiparous in 27 cases (56%). Fetal presentation was cephalic in 38 cases (79%), in 10 of which (21%) suction delivery was performed, and breech in 11. The fundus oculi was examined in 32 cases. Retinal hemorrhage was noted in 12 cases; it did not correlate with the type of hematoma or the intracranial pressure. Operations were performed in 13 cases; 1 of type I, 4 of type II, 5 of type III, and 3 of type IV. Functional prognoses were found to be as follows: type I, normal 15, abnormal 4, undetermined 6; type II, normal 4, abnormal 1; type III, normal 13, abnormal 1, undetermined 1; type IV, normal 1, abnormal 2 cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00707189
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  • 5
    Electronic Resource
    Electronic Resource
    Rare neonatal intracerebral hemorrhage (1987)
    Springer
    Child's nervous system 3 (1987), S. 161-164 
    Details
    ISSN: 1433-0350
    Keywords: Intracerebral hematoma ; Newborn ; Moulding ; Contusional hemorrhage ; Birth injury
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Intracranial hemorrhage in neonates is often found in either the subependymal area or the subdural space. The former is observed particularly in premature infants and is attributable to damage of the germinal matrix layer. The latter usually occurs in the vicinity of the falx and tentorium cerebri of full-term neonates and is thought to be caused by birth injury. Two cases of intracerebral hemorrhage in full-term newborn babies are reported. In both the hematoma was located at the left frontal area under the coronal suture. Angiograms revealed no causative signs, such as arteriovenous malformation, aneurysm or angioma. Observations on CT scans and during surgery led to the conclusion that the hemorrhages were caused by the moulding which forced the frontal bone to slip under the parietal bone at the coronal suture and then press on the fragile cerebral vasculature of the neonates, thus causing contusion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00717893
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  • 6
    Electronic Resource
    Electronic Resource
    Meningomyelocele associated with cranium bifidum: rare coexistence of two major malformations (1993)
    Springer
    Child's nervous system 9 (1993), S. 278-281 
    Details
    ISSN: 1433-0350
    Keywords: Meningomyelocele ; Cranium bifidum ; Interfrontal encephalomeningocele ; Chiari malformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three cases of lumbosacral meningomyelocele associated with cranium bifidum are reported. The meningomyeloceles were of the neural placode type and the cranium bifidum was an interfrontal encephalo-meningocele in all cases. Two of the patients received ventriculoperitoneal shunts and has evidence of type II Chiari malformation on magnetic resonance imaging. No evidence of a Chiari malformation was revealed in the third patient. We discuss the etiology of the rare coexistence of these two major malformations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00306273
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  • 7
    Electronic Resource
    Electronic Resource
    Brief Report: Incidence of and Risk Factors for Autistic Disorder in Neonatal Intensive Care Unit Survivors (1999)
    Springer
    Journal of autism and developmental disorders 29 (1999), S. 161-166 
    Details
    ISSN: 1573-3432
    Keywords: Autistic disorder ; neonatal intensive care unit ; meconium aspiration syndrome ; cerebral palsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract We investigated prospectively the incidence of autistic disorder (AD) in the neonatal intensive care unit and the risk factors associated with autistic development. The study population included the 5,271 children at St. Mary's Hospital and the diagnosis of AD was performed using DSM-III-R criteria. A total of 36 prenatal, perinatal, and postnatal factors were evaluated in the patients with AD, 57 cerebral palsy (CP), and 214 controls. AD was identified in 18 of the 5,271 children and the incidence was 34 per 10,000 (0.34%). This value was more than twice the highest prevalence value previously reported in Japan. Children with AD had a significantly higher history of the meconium aspiration syndrome (p = .0010) than the controls. Autistic patients had different risk factors than CP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1023048812202
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