[A case of central core disease. Light microscopic and histochemical studies (author's transl)].
A sporadic case of central core disease in a 5 1/2-year-old girl is reported. Clinically, a retarded motor development existed, furthermore, a muscle weakness and hypotonia of the extremities and trunk, contractures of the hip- and knee-joint,and luxation of both hip-joints. Biopsy specimens are taken from both Mm. gastrocnemii. Muscle fibres show, by morphologic examination, 95 per cent cores, which are characteristic for this myopathy. A further abnormality is seen inthe histochemical preparations for phosphorylase, succinate dehydrogenase, NAD diaphorase tetrazolium reductase, myofibrillar ATPase as well as AS-reaction with and without diastase digestion. With these techniques the muscle fibres show an uniform reaction pattern in which the activities of the oxidative andglycolytic enzymes correspond to the type I fibres of healthy persons. The cores show a lack of a activity of the oxidative and glycolytic enzymes as well as are ATPase- and PAS-negative. By reason of this histochemical behaviour it is suggested that the cores are predominantly unstructured. The cause of this disease might be complex disturbances in the neuro-muscular system manifested in the fetal period.
D002675:Child, Preschool; D003286:Contracture / Q000150:complications; D005260:Female; D006618:Hip Dislocation, Congenital / Q000150:complications; D006621:Hip Joint; D006651:Histocytochemistry; D006801:Humans; D007719:Knee Joint; D009123:Muscle Hypotonia / Q000473:pathology; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000150:complications / Q000201:enzymology / Q000473:pathology*
Beitrag zur Central Core Disease. Lichtmikroskopische und histochemische Untersuchungen