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  • 1
    Electronic Resource
    Electronic Resource
    Value of fluid-attenuated inversion recovery sequences in early MRI of the brain in neonates with a perinatal hypoxic-ischemic encephalopathy (2000)
    Springer
    European radiology 10 (2000), S. 1594-1601 
    Details
    ISSN: 1432-1084
    Keywords: Key words: Neonates – Hypoxic-ischemic brain injury – Myelination – MRI – FLAIR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. The aim of our study was to assess the usefulness of fluid-attenuated inversion recovery (FLAIR) sequences in comparison with conventional spin-echo and inversion MR imaging in neonates for evaluation of myelination and for detection of hypoxic-ischemic brain injury. We reviewed early MR scans of 18 neonates with suspected hypoxic-ischemic brain damage. Myelination could be evaluated with confidence using conventional MR imaging in all but 2 infants; however, the presence of myelin was very difficult to assess on FLAIR images. Overall, 53 lesions or groups of lesions were identified. The FLAIR technique was more sensitive in 11 of the lesions; especially (pre)cystic lesions could be identified much better and more cysts were found. Conventional MR imaging failed to identify 2 of the lesions and was more sensitive in 14 of the lesions; especially punctate hemorrhages and lesions in basal ganglia or thalami could be better determined. The FLAIR technique missed 3 of these lesions. In the remaining 28 lesions conventional MR and FLAIR images were equally diagnostic. The FLAIR technique and conventional MR imaging are complementary in detecting early sequelae of hypoxic-ischemic brain injury in neonates. The FLAIR technique is not suitable for assessing myelination of the neonatal brain; therefore, FLAIR cannot replace conventional MR imaging.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003300000482
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course (1996)
    Springer
    Acta neuropathologica 92 (1996), S. 206-212 
    Details
    ISSN: 1432-0533
    Keywords: Key words Spongiform leukoencephalopathy ; Myelin ; vacuolation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently, we described an as yet unidentified white matter disorder in eight patients which probably has an autosomal recessive mode of inheritance. The disease was characterized by megalencephaly and leukoencephalopathy with onset during the 1st year of life and a delayed onset of slowly progressive neurological dysfunction. No basic biochemical defect could be identified. Brain biopsy was performed in one of the patients and the histopathological findings are described in the present report. A spongiform leukoencephalopathy was revealed, without cortical involvement. Most vacuoles were covered by single five-layered membranes, representing single myelin lamellae. Some vacuoles were partially covered by multilamellar myelin sheaths or oligodendroglial cell extensions. The vacuoles were never found in the middle or inner parts of myelin sheaths, but involved the outermost lamellae of myelin sheaths only, whereas the remainder of the myelin sheats remained undisturbed. The histopathological findings place the disease among the vacuolating myelinopathies, although it is distinct from the well-known forms. Possible pathophysiological mechanisms are splitting of the outermost myelin lamellae at the intraperiod line or a disturbance of compaction of the outermost myelin lamellae at the intraperiod line.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050510
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Hyperhomocysteinaemia; with reference to its neuroradiological aspects (1995)
    Springer
    Neuroradiology 37 (1995), S. 403-411 
    Details
    ISSN: 1432-1920
    Keywords: Key words Hyperhomocystei- naemia ; Premature arteriosclerosis ; Demyelination ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe or even mild hyperhomocysteinaemia can cause a wide range of neurological problems. In recent years its vascular complications, including cerebral stroke, in children and young adults have gained special interest, because hyperhomocysteinaemia is treatable and recurrence of vascular incidents may be preventable. Current knowledge about biochemical mechanisms leading to hyperhomocysteinaemia, the pathogenesis of vascular pathology and neurological disfunction, and the various patterns of cerebral damage are reviewed. The significance of MRI in diagnosis, follow-up and research on hyperhomocysteinaemia is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00588024
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis (1995)
    Springer
    Neuroradiology 37 (1995), S. 679-686 
    Details
    ISSN: 1432-1920
    Keywords: Key words Leukoencephalopathy ; White matter swelling ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article is optimisation of the diagnostic value of MRI in leukoencephalopathy accompanied by swelling. MRI-based inclusion criteria were met by 20 patients in our database. The images were analysed using a detailed scoring list. In 13 of the 20 patients the clinical diagnosis was known (11 definite and 2 probable diagnoses). Characteristic MRI abnormalities could be defined in these patients. Of the 7 patients without a diagnosis, 5 had identical MRI abnormalities: diffuse hemisphere swelling and typical cysts in frontoparietal subcortical white matter and the tips of the temporal lobes. The clinical picture was also similar in these patients, suggesting a similar disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050179
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 835-840 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Guanidinoacetate methyltransferase (GAMT) deficiency (creatine deficiency syndrome) is a recently discovered inborn error of creatine biosynthesis. Affected patients have elevated concentrations of guanidinoacetate, the metabolic precursor of creatine, in urine, plasma and cerebrospinal fluid. In addition, urinary creatinine excretion and plasma creatinine concentration are decreased. For biochemical evaluation of patients suspected to suffer from GAMT deficiency, correct quantification of creatinine in plasma is important. Here we report our experience with different quantification techniques. We found that creatinine in plasma from two GAMT-deficient patients appeared normal when measured by the Jaffé method but was decreased when measured enzymatically or by HPLC. The apparently normal levels of creatinine as measured by the Jaffé method were not caused by guanidinoacetate. In urine, the Jaffé method and the enzymatic method gave similar results, indicating that in urine no false elevations of creatinine can be expected. As the Jaffé method is still widely used for routine plasma creatinine measurements, it is important to realize it cannot be used to exclude GAMT deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1026764703486
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    Paper (German National Licenses)
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