Summary
A case of progressive extrinsic ophthalmoplegia associated with peripheral neuropathy and hypertriglyceridemia type IV is described. Motor and sensory conduction velocities of the spinal nerves were severely decreased, while the EMG of the facial muscles was more suggestive of a myopathic disorder.
Electron microscopic study of biopsies of biceps and peroneus brevis muscles disclosed many ragged red fibers, mainly type I, which contained typical abnormal mitochondria. Other fibers, all type II, contained increased amounts of glycogen between myofibrils or beneath the sarcolemmal membrane, but the mitochondria were normal. These fibers were more abundant in the peroneus brevis than in the biceps muscle. Nerve biopsy revealed marked loss of myelinated fibers, but neither mitochondrial changes nor glycogen storages were evident in Schwann's cells.
Biochemical investigations confirmed the increased amount of glycogen in both muscle biopsies and revealed a decrease of guanilcyclase. Phosphorylase, phosphorylase b kinase, adenilcyclase, and carnitine concentrations were all normal.
The pathogenesis of this syndrome is discussed and the relationship between mitochondrial abnormalities and glycogen accumulation in muscle tissue are considered.
Zusammenfassung
Beschreibung eines Falles von Ophthalmoplegia externa mit Polyneuropathie und einer Hypertriglyzeridämie vom Typ IV. Hochgradige Verlangsamung der motorischen und sensiblen Erregungsleitung im peripheren Nerven. Im Gesicht war das Ergebnis der Nadelmyographie eher auf Myopathie verdächtig.
In der Biopsie des Musculus biceps und Musculus peronaeus brevis zeigten sich zahlreiche „ragged red fibers“, vorwiegend vom Typ I, die im elektronenmikroskopischen Bild abnorme Mitochondrien enthielten. Andere Fasern, sämtliche vom Typ II, wiesen einen erhöhten Glykogengehalt zwischen den Myofibrillen oder Subsarkolemmal auf, während die Mitochondrien normal erschienen. Diese letztgenannten Fasern waren zahlreicher im Musculus peronaeus brevis. Die Nervenbiopsie zeigte einen ausgesprochenen Verlust an myelinisierten Fasern, jedoch waren in den Schwannschen Zellen weder Anomalie der Mitochondrien noch Glykogenspeicherung sichtbar.
Biochemische Untersuchungen bestätigten den vermehrten Glykogengehalt in beiden Muskelbiopsien und zeigten eine Verminderung der Guanilzyklase. Hingegen waren Phosphorylase, Phosphorylase-b-Kinase, Adenilzyklase und Karnitin in normaler Konzentration vorhanden.
Es wird die Pathogenese des Syndromes diskutiert und die Beziehung zwischen den mitochondrialen Anomalien und der Vermehrung des Glykogens im Muskelgewebe besprochen.
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Moggio, M., Valli, G., Cerri, C. et al. Progressive extrinsic ophthalmoplegia with peripheral neuropathy and storage of muscle glycogen. J. Neurol. 221, 25–37 (1979). https://doi.org/10.1007/BF00313167
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DOI: https://doi.org/10.1007/BF00313167