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Subsequent to an earlier report on clinical and light microscopic data, peculiar Mallory body-like inclusions are described in muscle fibers of three genetically linked children. These Mallory body-like inclusions were unlike other well-defined intramuscular inclusions, such as nemaline, cytoplasmic, fingerprint, or sarcoplasmic bodies, but morphologically(More)
The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and(More)
Three children with leukaemia (one with acute myeloid, two with acute lymphoblastic leukaemia) developed pneumatosis intestinalis during cytostatic treatment. The aetiology of pneumatosis intestinalis in these children could not be elucidated. Pneumatosis intestinalis may be caused by entry of gas into a bowel wall which is altered by steroid or cytostatic(More)
A male infant had severe muscular hypotonia from birth. Recurrent vomiting with dehydration and severe metabolic acidosis complicated the course. Elevated lactate (up to 12.3 mmol/l; n<2), pyruvate (0.4 mmol/l; n<0.05) and alanine levels were found in serum with an abnormal lactate/pyruvate ratio (>30; n<15). In urine the concentrations of lactate,(More)
Clinical and morphological findings in five patients, three girls and two boys, afflicted with congenital muscular dystrophy (CMD) and cerebral lesions are reported. Four of these patients represented two pairs of siblings, and all patients had died in early infancy. Three of the patients had muscle hypotonia in early infancy, two siblings died with a(More)
Specific blood-tissue barrier alterations were observed in a 2-year-old boy with a myopathic lesion in his muscle. Close by, degenerative changes were present in muscle fibers, three types of vascular abnormalities, i.e. increased vascular permeability, neutrophil aggregation, and damage of endothelium with thrombi formation, suggest that a process of(More)
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