[Differential diagnosis of ocular myopathies].
While the ocular myopathies were hitherto classified in various syndromes solely on the basis of symptom complexes, biochemical and electron-microscopic studies are leading to new findings in the pathogenesis of these conditions, which are probably enzymopathies. At the same time, with the aid of electron microscopy, a classification of the myopathies is attempted on the basis of the morphological changes seen in the affected cells. However, the occurrence of giant mitochondria is no longer characteristic for myopathies. An acumulation of lipid vacuoles in the cells is currently designated "sudanophilic myopathy", and is frequently found in cases suffering from a carnitine deficiency. However, it is still difficult to demonstrate the enzyme defect responsible for the disease. -- Two cases of "sudanophilic myopathy" are reported. At first, a carnitine deficiency was assumed, but this could not be proved in subsequent follow-ups; the condition was therefore probably due to another type of enzyme deficiency in these two cases.
D000293:Adolescent; D000328:Adult; D002331:Carnitine / Q000172:deficiency; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000209:etiology / Q000473:pathology; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology
D002331:Carnitine
Zur Differentialdiagnose okulärer Myopathien.