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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 155-157 
    ISSN: 1432-1076
    Keywords: Tuberous sclerosis ; Cardiac tumours ; Echocardiography ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 155-157 
    ISSN: 1432-1076
    Keywords: Key words: Tuberous sclerosis – Cardiac tumours – Echocardiography – Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1920
    Keywords: Key words Nijmegen breakage syndrome ; Anomalies of brain ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present the results ¶of MRI examinations in ten patients with documented Nijmegen ¶breakage syndrome (NBS), aged 1.75–19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and γ-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Child's nervous system 11 (1995), S. 335-339 
    ISSN: 1433-0350
    Keywords: Tuberous sclerosis surgery ; Subependymal giant cell astrocytoma ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six children with intraventricular tumors associated with tuberous sclerosis (TS) were treated at the Children's Health Center, Department of Pediatric Neurosurgery, in the period 1987–1992. The age of the patients ranged from 7 to 15 years. TS was diagnosed according to Gomez diagnostic criteria. Computer tomography (CT) and magnetic resonance imaging showed intraventricular tumors associated with ventricular enlargement and multiple subependymal nodules commonly observed in cases of TS. All tumors were removed totally through frontal transcortical approach, with uneventful postoperative recovery. One patient, with two parallel tumors in the two frontal horns, underwent one-stage surgery with successful total removal. Histopathological examination in all cases showed subependymal giant cell astrocytoma (SGCA). The growth pattern of SGCA associated with TS, documented by sequential CT scans over several years, is described. The diagnosis and surgical treatment of the tumor are discussed, and periodic CT scanning, at least every 2 years, is recommended for patients with TS.
    Type of Medium: Electronic Resource
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