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  • 1
    Electronic Resource
    Electronic Resource
    Chromosome abnormalities in tuberous sclerosis (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 151-156 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280555
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  • 2
    Electronic Resource
    Electronic Resource
    Infantile spasms-long term results of ACTH treatment (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 51-55 
    Details
    ISSN: 1432-1076
    Keywords: ACTH ; Hypsarrhythmia ; Infantile spasms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract From a series of 230 subjects with infantile spasms (I.S.) observed from 1955 to 1982, 191 cases with sufficient data on follow-up and evaluation were selected. The period of follow-up in 100 subjects ranged from 3 months to 3 years and was more than 3 years in the remaining 91 patients. Disappearance of spasms and normal psychomotor development was observed in 34 of the 61 idiopathic and post-infectious cases. In 130 subjects with secondary forms normal psychomotor development was observed in only two patients; disappearance of spasms was noted in 54 and normalisation of the EEG in 13 subjects. Satisfactory long term results can be obtained with a relatively low dose of corticotropin in a considerable number of patients having idiopathic and post-infectious forms of I.S. To obtain the best results treatment should be started as soon as possible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442591
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  • 3
    Electronic Resource
    Electronic Resource
    Combined treatment modalities of orbital rhabdomyosarcoma in children (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 514-515 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441754
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  • 4
    Electronic Resource
    Electronic Resource
    Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 500-504 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of cafè-au-lait (CAL) spots as the single clinical finding. We evaluated whether “typical” or “atypical” appearance of the spots was important for the final diagnosis and whether the co-existence of other nonspecific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with “typical” CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with “atypical” CAL spots possibly has NF1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955059
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  • 5
    Electronic Resource
    Electronic Resource
    Trichothiodystrophy without photosensitivity (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 439-441 
    Details
    ISSN: 1432-1076
    Keywords: Trichothiodystrophy ; Photosensitivity ; DNA repair studies ; Ultramicroscopic skin findings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membranebound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496431
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  • 6
    Electronic Resource
    Electronic Resource
    Giant axonal neuropathy. Endocrinological and histological studies (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 274-280 
    Details
    ISSN: 1432-1076
    Keywords: Grant axonal neuropathy ; Endocrinological study ; Ultramicro-scopic hair, sural nerve, conjunctiva, skin findings ; Vitamin B12 and prednisone therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of giant axonal neuropathy (GAN) in a boy of 4 years and 6 months, is reported. Nerve conduction velocity (NCV), EEG and CT scan indicated both peripheral and central nervous system involvement. Intestinal absorption tests did not reveal vitamin B12 malabsorption; the endocrine situation was found to be substantially normal. The clinical picture was not modified by 18 months cyanocobalamine administration followed by 2 months therapy with prednisone. Electron microscopic (EM) examination revealed longitudinal and opposing grooves (pili canaliculi) in the hair and bundles of neuro-filaments in the myelinated and unmyelinated nerve fibre axons in sural nerve. EM of conjunctiva and skin revealed masses of intermediate-sized filaments within mastcells, fibroblasts, melanocytes, endothelial and Schwann cells. These findings confirm the hypothesis that GAN is a generalised abnormality of cytoplasmic microfilament formation, probably linked to an unknown disorder of protein metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451961
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  • 7
    Electronic Resource
    Electronic Resource
    Free sialic acid storage disease (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 195-198 
    Details
    ISSN: 1432-1076
    Keywords: Free sialic acid storage disease ; Salla disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02343235
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  • 8
    Electronic Resource
    Electronic Resource
    Infantile spasms in patients with neurofibromatosis type 1 (1994)
    Springer
    Child's nervous system 10 (1994), S. 176-179 
    Details
    ISSN: 1433-0350
    Keywords: Neurofibromatosis type 1 ; Infantile spasms ; Hamartomatous lesions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The authors report two patients with neurofibromatosis type 1 who were affected by infantile spasms. The infantile spasms were severe and unresponsive to anticonvulsant treatment. The authors maintain that infantile spasms may belong to the clinical features of neurofibromatosis type 1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00301086
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  • 9
    Electronic Resource
    Electronic Resource
    Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1 (1993)
    Springer
    Child's nervous system 9 (1993), S. 448-451 
    Details
    ISSN: 1433-0350
    Keywords: Neurofibromatosis type 1 ; Magnetic resonance imaging ; Computed tomography ; Central nervous system imaging abnormalities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the results of the reevaluation of 24 patients with neurofibromatosis type 1 (NF1) using central nervous system (CNS) imaging techniques. The first examination by computed tomography (CT) or magnetic resonance imaging (MRI) indicated the presence of optic glioma in three cases, “unidentified bright objects” (UBOs) in six, and a suspected right frontal tumor in one. In two patients optic glioma and UBOs were both present and in one of them a bulbar tumor was also suspected. Later imaging examinations revealed the appearance of optic glioma in three more cases and UBOs in nine. In two of these patients both optic glioma and UBOs were present. This study indicates that the likelihood of detecting imaging abnormalities in patients with NF1 increases when systematic follow-up is performed. Optic gliomas are characteristic of pediatric patients; they rarely give rise to clinical manifestations (1/6 cases) and in general progress very slowly. For these reasons, therapeutic strategy must be carefully considered and individually decided. UBOs are very frequent findings in pediatric patients with NF 1 and therefore they must be considered diagnostically relevant. They are not related to clinical manifestations and spontaneous regression has been observed. The nature of these imaging abnormalities is still unknown, but because they do not behave like tumors, useless and dangerous therapeutic procedures should not be employed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00393546
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  • 10
    Electronic Resource
    Electronic Resource
    Use of intravenous immunoglobulins in drug-resistant epilepsy (1990)
    Springer
    Child's nervous system 6 (1990), S. 400-405 
    Details
    ISSN: 1433-0350
    Keywords: Drug-resistant epilepsy ; Gammaglobulin therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Among the 257 pediatric patients examined, 104 were classified as having drug-resistant epilepsy (DRE). In all of them genetic, metabolic, chromosomal and infectious causes were investigated, and brain imaging with computed tomography scans and nuclear magnetic resonance were obtained. Since treatment with gammaglobulins (GGs) has been reported to be useful in pediatric cases of epilepsy, informed consent for GGs treatment was obtained in 43 patients with DRE. The etiology or evidence of brain lesions was identified in 16 of them. In 31 of these patients, neither conventional drug treatment, nor a trial with adrenocorticotropic hormone was successful. Intact monomeric GGs, 400 mg/kg, were given intravenously. A second dose was given after 15 days and, thereafter, every 21 days for a maximum of ten injections (protocol A), or every 2nd day for a maximum of five doses (protocol B). In every patient, the type of epilepsy was identified according to the classification of the International League Against Epilepsy. The frequency of seizures was recorded for a period beginning at least 6 months before the administration of GGs. Immunological evaluation was also performed before and after the treatment with GGs. A transient decrease of the seizure frequency was noted in 12 subjects. In another patient with infantile idiopathic myoclonic epilepsy, seizures disappeared for 30 months. In 1 case a persistent 80% reduction in the number of seizures was observed. A persistent disappearance of seizures was noted in a subject with complex partial seizures (CPS) that followed an idiopathic infantile spasm syndrome. In 2 more patients, 1 with grand mal status and another with idiopathic generalized tonic-clonic seizures (GTCS), seizures also disappeared, but the relationship to treatment with GGs was not straightforward. Treatment with GGs can be tried in cases of drug-resistant idiopathic GTCS, myoclonic or CPS when other treatments have failed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00302227
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