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Neuropathological and neurochemical studies of three cases of sudanophilic leucodystrophy

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Summary

Three cases of sudanophilic leucodystrophy were examined clinically, neuropathologically and neurochemically. They were all adult and sporadic cases. The onset of illness was characterised by personality change or dementia. The duration ranged from 3–6 years. Neuropathologically, Case 1 showed typical findings of the simple type of Hallervorden. Case 2 showed a diffuse demyelination with few myelin breakdown products (sudanophilic). Case 3 showed a diffuse and mottled appearance of myelin damage resembling Loewenberg-Hill type.

There was a decrease of cholesterol and cerebroside in the demyelinated areas in all cases, whereas an increase of cholesterol ester was found in Case 1 and 3. Fatty acid composition of cerebroside of Case 2 was investigated.

The variation of morphological pictures of “sudanophilic leucodystrophy” including Pelizaeus-Merzbacher disease was discussed.

Zusammenfassung

Drei Fälle von orthochromatischer Leukodystrophie wurden klinisch, neuropathologisch und neurochemisch untersucht.

Alle Fälle waren Erwachsene. Familiäre Belastung bestand in keinem Fall. Die klinischen Erstsymptome waren Persönlichkeitsveränderung und Verblödung. Die Erkrankung dauerte von 3–6 Jahren.

Neuropathologisch zeigte der erste Fall die typischen Befunde der einfachen orthochromatischen Form (Hallervorden). Im zweiten Fall fanden sich nur wenige sudanophile Abbauprodukte. Eine diffuse und fleckförmige Entmarkung im dritten Fall ähnelte dem von Löwenberg und Hill beschriebenen Fall.

Neurochemisch ließ sich eine Abnahme des Cholesterins sowie des Cerebrosids in den Entmarkungsbezirken aller Fälle nachweisen; Cholesterin-ester waren im ersten und dritten Fall vermehrt. Die Fettsäurezusammensetzung der Cerebroside von Fall 2 wurde analysiert.

Die Variation der morphologischen Befunde in der orthochromatischen Leukodystrophie einschließlich der Pelizaeus-Merzbacherschen Krankheit wird diskutiert.

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Authors and Affiliations

  1. Department of Neuro-Psychiatry, Gumma University, Medical School, 3-39 Shower machi, Maebashi, Gumma, Japan

    Yuichi Tsuchiya, Toshio Numabe & Susumu Yokoi

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  1. Yuichi Tsuchiya
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  2. Toshio Numabe
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  3. Susumu Yokoi
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Tsuchiya, Y., Numabe, T. & Yokoi, S. Neuropathological and neurochemical studies of three cases of sudanophilic leucodystrophy. Acta Neuropathol 16, 353–366 (1970). https://doi.org/10.1007/BF00686898

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