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  • 1
    Electronic Resource
    Electronic Resource
    Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report (1995)
    Springer
    Neuroradiology 37 (1995), S. 692-695 
    Details
    ISSN: 1432-1920
    Keywords: Facial haemangioma ; Agenesis of internal carotid artery ; Cortical dysplasia ; Magnetic resonance angiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a girl with a facial haemangioma, associated with other vascular anomalies: agenesis of the internal carotid artery, cerebral cortical dysplasia and hypoplasia of the cerebral hemisphere on the same side of the angioma. We studied the patient by conventional arteriography, T1- and T2-weighted MRI and magnetic resonance angiography.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00593396
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  • 2
    Electronic Resource
    Electronic Resource
    Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report (1995)
    Springer
    Neuroradiology 37 (1995), S. 692-695 
    Details
    ISSN: 1432-1920
    Keywords: Key words Facial haemangioma ; Agenesis of internal carotid artery ; Cortical dysplasia ; Magnetic resonance angiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a girl with a facial haemangioma, associated with other vascular anomalies: agenesis of the internal carotid artery, cerebral cortical dysplasia and hypoplasia of the cerebral hemisphere on the same side of the angioma. We studied the patient by conventional arteriography, T1- and T2-weighted MRI and magnetic resonance angiography.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050181
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas (1978)
    Springer
    Neuroradiology 16 (1978), S. 82-84 
    Details
    ISSN: 1432-1920
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Seven patients with facial and scalp capillary hemangiomas with associated vascular and nonvascular intracranial malformations are presented. All patients were female. The most important anomalies include: Dandy-Walker disease, cerebellar hypoplasia, arterial angiomas, and abnormal origin and intracranial distribution of some of the principal cerebral arteries.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00395211
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  • 4
    Electronic Resource
    Electronic Resource
    Vascular changes in cerebellar developmental defects (1978)
    Springer
    Neuroradiology 16 (1978), S. 58-60 
    Details
    ISSN: 1432-1920
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A study of arterial vascular changes in different types of cerebellar defects is presented. PICA was found to be hypoplastic or aplastic in a large number of cases. In cases of cerebellar defects involving mostly the vermis, the hypoplastic PICA was frequently associated with a compensatory hyperdevelopment of HCA or MCA. Anomalies at the origin of the vertebral arteries associated with hypoplastic PICA were common.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00395203
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  • 5
    Electronic Resource
    Electronic Resource
    Radiological and anatomical aspects of the cranial metastases of neuroblastomas (1975)
    Springer
    Neuroradiology 9 (1975), S. 33-38 
    Details
    ISSN: 1432-1920
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les auteurs rapportent les aspects radiologiques des métastases crâniennes de neuroblastomes chez cinq enfants en insistant surtout sur la disjonction des sutures et les images en “brosse” et, à un moindre degré, les lacunes et l'aspect “mité” des os du crâne. Dans un cas, on trouve un large envahissement de la région sphénoidale, du sinus caverneux et de la selle turcique, avec un important déplacement des citernes périsellaires vers l'extérieur, une obstruction du siphon carotidien, thrombose des sinus caverneux et vascularisation pathologique de la métastase. L'autopsie montra un grand envahissement métastatique de la face externe de la dure-mère sans envahissement de la face interne ni de l'encéphale, élargissement irrégulier du crâne. On estime que la disjonction brutale des sutures observées dans certains cas peut être provoquée non seulement par la volumineuse métastase de la face externe de la dure-mère, mais aussi par l'envahissment métastatique du crâne. Chez les enfants, la métastase crânío-orbitaire est souvent découverte avant la tumeur primitive.
    Abstract: Zusammenfassung Anhand von fünf Kindern werden die neuroradiologischen Zeichen der cranialen Metastasierung von Neuroblastomonen geschildert. Es wird darauf hingewiesen, daß diese Metastasen bereits Symptome hervorrufen können, bevor das Neuroblastom entdeckt wird.
    Notes: Summary The radiological findings in 5 children with metastatic neuroblastoma are described. These consist, in addition to the moth eaten lacunae of the vault, of very wide diastases of the cranial bones, including those of the orbit, irregular thickening of the bones with “hair brush” images, displacement of the circumsellar cisterns, obstruction of the carotid siphon, thrombosis of the cavernous sinus, and excessive vascularization of the metastases. Clinical symptoms caused by the metastases usually preceed the symptoms due to the primary tumor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00330134
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  • 6
    Electronic Resource
    Electronic Resource
    Dandy-Walker malformation: analysis of 38 cases (1991)
    Springer
    Child's nervous system 7 (1991), S. 88-97 
    Details
    ISSN: 1433-0350
    Keywords: Dandy-Walker malformation ; Hydrocephalus ; Mental retardation ; Capillary angioma ; Agenesis of corpus callosum ; Cardiac malformations ; Macrocephaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 case); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra-and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00247863
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  • 7
    Electronic Resource
    Electronic Resource
    X-Linked dysosteosclerosis (1977)
    Springer
    European journal of pediatrics 126 (1977), S. 127-138 
    Details
    ISSN: 1432-1076
    Keywords: Dysosteosclerosis ; X-linked dysosteosclerosis ; Osteodermoneurologic syndrome ; Optic nerve atrophy ; Dwartism ; Mental retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four Spanish children with clinical and radiological features corresponding to dysosteosclerosis are presented. All the children were male and belonged to the same family. The first known carrier is the maternal grand-mother, who had three daughters by three different fathers who in turn had one or more sons with the disease. The four carriers were normal. Consanguinity did not occur in any case and the disorder was transmitted as a sex-linked recessive condition.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442194
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  • 8
    Electronic Resource
    Electronic Resource
    Childhood choroid plexus neoplasms (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 51-56 
    Details
    ISSN: 1432-1076
    Keywords: Brain tumors ; Choroid plexus papilloma ; Hydrocephalus ; Intracranial venous malformation ; Fourth ventricle ; Lateral ventricles ; Third ventricle ; Mental retardation ; Computed tomography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fourteen children less than 2 years old with choroid plexus papilloma (CPP) were studied. Of these patients nine had the tumor in the lateral ventricles (LV), three in the fourth ventricle (4th V), one in the third ventricle (3rd V) and one in the third and left lateral ventricle (LLV). Ten cases showed benign CPP, three cases malignant CPP, and one case had a venous malformation of the choroid plexus (VMCP). Computed tomography (CT) was the best method for neuroradiological study, although a very small CPP in the 3rd V was not detected in an early study. Malignant and benign CPP can be differentiated with CT, especially if the study is performed with contrast media. Pneumoencephalography must be rejected because it is very dangerous and may be the cause of death in some cases. The follow-up of patients with CPP showed a poor prognosis, even after correctly removing the tumor and inserting a shunt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661906
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  • 9
    Electronic Resource
    Electronic Resource
    Fronto-nasal dysplasia and lipoma of the corpus callosum (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 66-71 
    Details
    ISSN: 1432-1076
    Keywords: Fronto-nasal dysplasia ; Medial facial fissure ; Lipoma of the corpus callosum ; Brain midline malformations ; Hypertelorism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A longitudinal study was performed of eight patients with fronto-nasal dysplasia. The follow-up exceeded 15 years in some patients. The eight cases showed lipoma of the corpus callosum. The only clinical alterations observed were cosmetic ones. No neurological abnormality was found, although their intellectual level was just within normal limits, the average IQ being 95, ranging from 82-103. No relationship between the IQ and the type of facies or the size of the lipoma was found. All the children presented psychological alterations, especially misanthropy and shyness. The lipoma was diagnosed by computerised tomography. Two otherwise unidentifiable small lipomas were found with this technique. Pneumoencephalography and carotid arteriography, which had been performed on nearly all the patients before CT scanning, had demonstrated some alterations. These anomalies slightly deformed the anterior portion of the lateral ventricles and anterior cerebral arteries, but a lipoma in the corpus callosum had not been considered. Only in one case was hypogenesis of the corpus callosum clearly demonstrated. The presence of an extra-osseous lipoma on the forehead and of a vertical bony bar in the intracranial midline in contact with the frontal bone are definite signs of the presence of a lipoma in the corpus callosum. The lipoma is in anterior contact with the vertical bony bar. The neurological alterations presented by the patients in this series are minor compared with those described by other authors writing of children with lipoma of the corpus callosum without FND. Because of mild clinical alteration in these children we have not considered removing the lipoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491930
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  • 10
    Electronic Resource
    Electronic Resource
    Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 802-810 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitinaemia and the absence of a pathological dicarboxylic aciduria in both sisters suggested a very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Reduced [1-14C]palmitate oxidation and deficient mitochondrial VLCAD activity in fibroblasts were found. Mutation analysis revealed compound heterozygosity for Asp365His and Arg410His changes. This late-onset, milder clinical presentation differs from the other two more severe infantile phenotypes described, since there is no hypoglycaemia or cardiac disease. Fatty acid oxidation defects should be investigated in all cases with rhabdomyolysis beginning in adolescence or early adulthood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005553907216
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