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  • 1
    Electronic Resource
    Electronic Resource
    Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins (1981)
    Springer
    Acta neuropathologica 54 (1981), S. 11-17 
    Details
    ISSN: 1432-0533
    Keywords: Connatal Pelizaeus-Merzbacher disease ; Congenital stridor ; X-linked inheritance ; Psychomotor retardation ; Quantified cerebral morphology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691328
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  • 2
    Electronic Resource
    Electronic Resource
    Polyglucosan bodies in sural nerve biopsies (1990)
    Springer
    Acta neuropathologica 80 (1990), S. 554-557 
    Details
    ISSN: 1432-0533
    Keywords: Polyglucosan bodies ; Sural nerve biopsy ; Lafora's disease ; Ageing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The presence of polyglucosan bodies in sural nerves collected over a 16-year period was studied in relation to age, sex, presence of polyneuropathy, and concomitant presence of central nervous system disorder. Polyglucosan bodies have been seen in only one patient without a polyneuropathy. This patient was suffering from Lafora's disease. In all other sural nerves positive for polyglucosan bodies a polyneuropathy was present. Within this group the prevalence of polyglucosan bodies was positively correlated with age, and if a central nervous system disorder was associated, this prevalence was more distinct. With semiquantitative measurements of the surface of polyglucosan bodies a significant correlation was found between age and percentage of large bodies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294618
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  • 3
    Electronic Resource
    Electronic Resource
    The neuropathy of Cockayne syndrome (1983)
    Springer
    Acta neuropathologica 61 (1983), S. 153-156 
    Details
    ISSN: 1432-0533
    Keywords: Cockayne syndrome ; Neuropathy ; Segmental demyelination ; Schwann cell inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We studied three unrelated infants and three adolescent siblings with Cockayne syndrome. The infants showed severe psychomotor retardation. Neurologic manifestations in the siblings were less severe and only slowly progressive. All patients had slowed peripheral nerve conduction. Nerve biopsies demonstrated segmental demyelination and remyelination in each case. In the infantile cases this process was severe and rapidly progressive; in the juvenile cases it was mild and chronic. Distinctive membrane-bound polymorphous inclusions were found in occasional Schwann cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00697396
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  • 4
    Electronic Resource
    Electronic Resource
    Congenital muscular dystrophy (1993)
    Springer
    Acta neuropathologica 86 (1993), S. 386-392 
    Details
    ISSN: 1432-0533
    Keywords: Congenital muscular dystrophy (CMD) ; Muscle biopsy ; Semiquantitative histological analysis ; Dystrophin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on the CT scans of 2 patients with (sub)normal intelligence (occidentaltype cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in ‘pure’ CMD (pure-CMD). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00369452
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  • 5
    Electronic Resource
    Electronic Resource
    Polyglucosan bodies in intramuscular motor nerves (1989)
    Springer
    Acta neuropathologica 77 (1989), S. 629-633 
    Details
    ISSN: 1432-0533
    Keywords: Polyglucosan bodies ; Muscle ; Nerve ; Lafora's disease ; Ageing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The presence of polyglucosan bodies was studied in intramuscular motor nerves of 292 muscle biopsies. These biopsies were classified into five diagnostic categories and investigated for the presence of polyglucosan bodies in relation to age and sex. Their presence was nonspecific in patients over 20 years, the only correlation being with ageing. Under 20 years, their presence pointed to the diagnosis of Lafora's disease. In cases in which both a muscle biopsy and a sural nerve biopsy were performed, the former appeared to contain these polyglucosans more frequently.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687891
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  • 6
    Electronic Resource
    Electronic Resource
    Neuropathological findings in muscle-eye-brain disease (MEB-D) (1991)
    Springer
    Acta neuropathologica 83 (1991), S. 55-60 
    Details
    ISSN: 1432-0533
    Keywords: Muscle-eye-brain disease ; Fukuyama type of congenital muscular dystrophy ; Neuropathological differentiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294430
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  • 7
    Electronic Resource
    Electronic Resource
    A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 441-444 
    Details
    ISSN: 1432-1076
    Keywords: Myopathy ; Convulsions ; Mitochondria ; Respiratory chain ; Coenzyme Q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441735
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  • 8
    Electronic Resource
    Electronic Resource
    Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 587-589 
    Details
    ISSN: 1432-1076
    Keywords: Myasthenia gravis ; Autoimmune thrombocytopenic purpura ; Thymectomy ; Autoantibodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the association of myasthenia gravis (MG) and autoimmune thrombocytopenic purpura (AITP) in a 13-year-old girl. The co-existence of these autoimmune diseases is rare in adults and, to our knowledge, never described in children. In our patient thymectomy had a therapeutic effect on both MG and AITP, suggesting a altered T-cell function as a pathogenic factor of major importance in both affections.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02467359
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  • 9
    Electronic Resource
    Electronic Resource
    High-dose intravenous immunoglobulin treatment in cryptogenic West and Lennox-Gastaut syndrome; an add-on study (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 762-769 
    Details
    ISSN: 1432-1076
    Keywords: Epilepsy ; West syndrome ; Lennox-Gastaut syndrome ; Immunoglobulin ; Child
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In an add-on pilot study, a group of 15 children with cryptogenic and intractable West syndrome (3) and Lennox-Gastaut syndrome (12) received intravenous immunoglobulin (IVIg, 0.4g/kg body weight per day for 5 consecutive days, followed by the same dose once every 2 weeks for 3 months). Five patients had been treated previously with ACTH without success. The reduction in clinical seizures averaged 70%. Electroencephalographic (EEG) recordings revealed a mean reduction in epileptic discharges of 40%. In all 15 patients, acceleration of EEG background activity occurred, and psychomotor development improved. Prior to IVIg administration, CSF examinations were normal. After IVIg administration, the serum total IgG concentration increased by an average of 76%, and the CSF IgG concentration by 44%. According to our data, IVIg crosses the blood-CSF barrier, and might be effective in the treatment of West syndrome and Lennox-Gastaut syndrome. We suggest it should be considered when other treatments, such as ACTH, have failed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954498
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  • 10
    Electronic Resource
    Electronic Resource
    Treatment and follow-up of children with cerebrotendinous xanthomatosis (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 313-316 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cerebrotendinous xanthomatosis ; Clinical spectrum ; Treatment ; Follow up
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical spectrum and the effects of treatment over a period of 5 years in five children with cerebrotendinous xanthomatosis (CTX) are described. In all children biochemical, neuroradiological, and neurophysiological studies were done. CTX was diagnosed and effects of therapy were evaluated by determination of the serum cholestanol/cholesterol ratio (CCR) and the urinary excretion of bile alcohols. All children were treated with chenodeoxycholic acid (15 mg/kg/day) in three divided oral doses. Diarrhoea and juvenile cataract were the main clinical features. Psychomotor retardation, pyramidal and cerebellar signs were also found. After starting treatment, biochemical abnormalities normalized and diarrhoea disappeared. After 1 year of therapy there was no further delay in motor development, and in three children the intelligence quotient improved. EEG abnormalities disappeared. After 5 years of therapy the children are in a stable clinical condition. Conclusion The clinical, biochemical and neurophysiological abnormalities in five children with CTX showed a remarkable improvement after starting treatment with chenodeoxycholic acid. The early diagnosis of CTX and the start of treatment with chenodeoxycholic acid has prevented neurological deterioration for a period of 5 years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050818
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