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Peripheral neuropathy in globoid cell leucodystrophy (Morbus Krabbe)

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Summary

Biopsy and autopsy material, from the peripheral nervous system of six subjects with globoid cell leucodystrophy (Krabbe's disease) was subjected to detailed light microscopic examination. The lipid histochemical methods (Adams et al.) were used for the peripheral nerves from four subjects on whom autopsy was performed.

The peripheral nerves presented severe degenerative changes in the axons and myelin sheaths, associated with endoneurial fibrosis and perivascular accumulations of histiocytes.

Lipid histochemical examination showed the presence of large amounts of a granular substance, apparently contained in the Schwann cells and the endoneurial phagocytes. One component of this substance is, most probably, cerebroside. No sudanophilic breakdown products were found.

Both ventral and dorsal spinal nerve roots showed marked degeneration of the axons and myelin sheaths. Dorsal root ganglia presented severe degenerative changes in neurons, most probably due to retrograde degeneration, and associated with intense proliferation of capsule cells and interstitial cells.

Thus, in Krabbe's disease, severe degenerative changes may occur not only in the central but also in the peripheral nervous system. Most probably, the myelin sheath changes in the peripheral nerves, are essentially a manifestation of the basic metabolic disturbance in this disease.

Zusammenfassung

Biopsie- und Autopsiematerial des peripheren Nervensystems von sechs Fällen mit Globoidzell-Leukodystrophie (Typ Krabbe) wurde einer sorgfältigen lichtoptischen Untersuchung unterzogen. Die histochemischen Methoden zur Untersuchung der Lipide (Adams et al.) wurden an vier autoptisch untersuchten Fällen angewandt.

Die peripheren Nerven zeigten schwere degenerative Veränderungen der Axone und Markscheiden mit Endoneuralfibrose und perivasaler Anhäufung von Histiocyten.

Die lipidhistochemische Untersuchung ergab den Nachweis großer Mengen einer granulären Substanz, die offenbar in den Schwann-Zellen und endoneuralen Phagocyten enthalten ist. Eine Komponente dieser Substanz ist wahrscheinlich Cerebrosid. Sudanophile Abbauprodukte waren nicht nachweisbar.

Die spinalen Vorder- und Hinterwurzeln zeigten deutliche Degeneration der Axone und Markscheiden. Die Hinterwurzelganglien boten schwere degenerative Veränderungen der Neurone, vermutlich infolge retrograder Degeneration, verbunden mit starker Proliferation der Kapselzellen und interstitiellen Zellen.

Die erhobenen Befunde zeigen, daß bei der Krabbeschen Erkrankung schwere degenerative Veränderungen nicht nur im ZNS, sondern auch im peripheren Nervensystem auftreten. Wahrscheinlich stellen die Markscheidenveränderungen in den peripheren Nerven eine essentielle Manifestation der dieser Erkrankung zugrunde liegenden Stoffwechselstörung dar.

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  1. Neuropathological Laboratory, Department of Pathology I, University of Göteborg, Göteborg, Sweden

    Patrick Sourander & Yngve Olsson

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  1. Patrick Sourander
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Sourander, P., Olsson, Y. Peripheral neuropathy in globoid cell leucodystrophy (Morbus Krabbe). Acta Neuropathol 11, 69–81 (1968). https://doi.org/10.1007/BF00692796

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