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  • 1
    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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    Paper (German National Licenses)
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  • 2
    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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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Biochemical diagnosis of Canavan disease (1992)
    Springer
    Child's nervous system 8 (1992), S. 468-470 
    Details
    ISSN: 1433-0350
    Keywords: Canavan disease ; N-acetylaspartic aciduria ; Aspartoacylase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274411
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    EEG, PET, SPET and MRI in intractable childhood epilepsies: possible surgical correlations (1995)
    Springer
    Child's nervous system 11 (1995), S. 672-678 
    Details
    ISSN: 1433-0350
    Keywords: SPET ; PET ; EEG ; MRI ; Drug-resistant epilepsy ; Epilepsy surgery
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Magnetic resonance imaging (MRI), single photon emission tomography (SPET), and positron emission tomography (PET) using [18F]fluorodeoxyglucose were used in combination with scalp and scalp-video EEGs in a group of 30 pediatric patients with drug resistant epilepsy (DRE) in order to identify patients who could benefit from neurosurgical approach. Seizures were classified according to the consensus criteria of The International League Against Epilepsy. In three patients infantile spasms (IS) were diagnosed; 13 subjects were affected by different types of generalized seizures, associated with complex partial seizures (CPS) in three. In the other 14 patients partial seizures, either simple (SPS) or complex, were present. A localized abnormality was demonstrated in one patient with IS and in three patients with generalized seizures. Of the group of 14 subjects with CPS, MRI and CT were normal in 7, but SPET or PET indicated focal hypoperfusion or hypometabolism concordant with the localization of the EEG abnormalities. In 5 of the other 7 patients anatomical and functional imaging and EEG findings were concordant for a localized abnormality. It can be concluded that functional imaging combined with scalp EEGs appears to be superior to the use of only CT and MRI for selecting children with epilepsy in whom a surgical approach can be considered, in particular when CPS resistant to therapy are present.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00262229
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    Paper (German National Licenses)
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