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  • 1
    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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  • 2
    Electronic Resource
    Electronic Resource
    Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities (1978)
    Springer
    European journal of pediatrics 127 (1978), S. 211-217 
    Details
    ISSN: 1432-1076
    Keywords: Diarrhoea ; Dwarfism ; Neuromuscular disease ; Motor end plate ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic pattern was found on electromyography. Biochemical studies revealed no abnormalities. Routine histological studies of biopsied muscle showed no obvious structural abnormalities. Examination of 1 μm tissue sections revealed groups of atrophic fibers. Electronmicroscopy revealed widened spaces between the myofibrils with disruption of filament arrangement. The mitochondria in the motor end-plates were very distended and almost devoid of cristae.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442063
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  • 3
    Electronic Resource
    Electronic Resource
    Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 205-209 
    Details
    ISSN: 1432-1076
    Keywords: Muscle ; Lipid storage myopathy ; Carnitine ; Morphometria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D,L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441643
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  • 4
    Electronic Resource
    Electronic Resource
    Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 92-97 
    Details
    ISSN: 1432-1076
    Keywords: Mitochondrial myopathy ; Electron transport chain ; Metabolic screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445910
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  • 5
    Electronic Resource
    Electronic Resource
    Maternal phenylketonuria: comparison of two treated full term pregnancies (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 221-223 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Maternal PKU
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This case report documents the fetal outcome of two full term pregnancies in a patient with phenylketonuria (PKU). She was treated with a low phenylalanine diet preceeding and during both pregnancies. During her first full term pregnancy she was not able to maintain the rigid diet, and this pregnancy resulted in the delivery of a growth-retarded, microcephalic boy. In her second pregnancy the patient maintained the diet until her delivery at full term. Maternal blood phenylalanine levels remained with two exceptions below 600 μmol/l throughout pregnancy and an infant of normal weight and head circumference was born.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446071
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  • 6
    Electronic Resource
    Electronic Resource
    Increased volume density of peripheral mitochondria in skeletal muscle of children with exercise intolerance (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 744-750 
    Details
    ISSN: 1432-1076
    Keywords: Morphometry ; Exercise intolerance ; Mitochondria ; Skeletal muscle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Muscle biopsies from 17 children with exercise intolerance and other miscellaneous symptoms and signs showed changes in mitochondrial content. The patients could not be classified according to known criteria. The histopathological changes were quantified by morphometric analysis and the clinical data were statistically analysed to detect intercorrelations. After a mean follow up period of 6.8 years (range 0.5–13.6), patients were re-examined and the course of the disease was determined. No clinical entity could be established. None of the patients showed aggravation of the exercise intolerance, but 71% noted no improvement. An increased volume density of peripheral mitochondria was shown in 59%. Based on clinical history, histopathological changes and course we suggest that some of these patients suffer from a yet unknown disturbance in energy metabolism. Recognition of these patients is important for appropriate counselling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958770
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  • 7
    Electronic Resource
    Electronic Resource
    Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies (1990)
    Springer
    European journal of pediatrics 150 (1990), S. 104-108 
    Details
    ISSN: 1432-1076
    Keywords: Reduced nicotinamide adenine dinucleotide (NADH) dehydrogenase ; Respiratory chain ; Mitochondrial myopathies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072049
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  • 8
    Electronic Resource
    Electronic Resource
    Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 178-184 
    Details
    ISSN: 1432-1076
    Keywords: Mitochondrial (encephalo-)myopathy ; Respiratory chain ; Biochemical diagnosis ; Pitfalls
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an incorrect diagnosis. Patients selection is of crucial importance. Metabolic examination of body fluids, particularly with respect to lactate accumulation, is used as a selection criterion for further examinations. Numerous aspects associated with this metabolic examination have been critically evaluated, including the phenomenon of other causes of lactic acidaemia apart from mitochondrial disorders. Correct performance of in vivo function tests may contribute to a reduction of the number of missed diagnoses. Selection of the controls for biochemical investigations must be accurately be performed to obtain reliable reference values. Knowledge of the age-dependancy of the biochemical parameters is necessary for a correct interpretation. It goes without saying that the choice of the tissue for biochemical investigations is of utmost importance. Knowledge of the tissue-specific occurrence of some defects in the mitochondrial respiratory chain is necessary. The biochemical examinations can be performed both in biopsy and autopsy material but only under certain conditions. Diagnostic approach requires application of reliable biochemical methods which are described. One of the most intriguing aspects in the diagnosis of mitochondrial disorders is the significance of a defect in relation to the residual enzyme activity found in the patient. Moreover, attention is paid to relevant items such as the occurrence of multiple and secondary defects. It may be concluded that there are many reasons for an incorrect diagnosis of a mitochondrial myopathy. Knowledge of these features is necessary to avoid diagnostic errors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956139
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  • 9
    Electronic Resource
    Electronic Resource
    Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism (1977)
    Springer
    European journal of pediatrics 127 (1977), S. 41-47 
    Details
    ISSN: 1432-1076
    Keywords: Organic aciduria ; Hypoxia ; Prematures ; Gas chromatography ; Mass spectrometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A very unusual pattern of organic acid excretion was established in the urine of two premature newborns with severe respiratory distress and cerebral haemorrhages. By combined gas chromatography/mass spectrometry the following acids were identified: lactic acid, α-hydroxy-butyric acid, β-hydroxy-butyric acid, α-hydroxy-isovaleric acid, and p-hydroxy-phenyllactic acid. Calculation of the concentration revealed an excessive excretion of lactic acid and also very high excretion of the other acids. A post mortem blood sample from one of the patients revealed a comparable pattern. The abnormal urinary organic acid excretion pattern was most probably caused by severe tissue hypoxia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00465564
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  • 10
    Electronic Resource
    Electronic Resource
    Recurrent exertional rhabdomyolysis and stunted growth (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 133-138 
    Details
    ISSN: 1432-1076
    Keywords: Rhabdomyolysis ; Myoglobinuria ; Dwarfism ; Myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he, noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11 C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442373
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