Zusammenfassung
Ein am 8. Lebenstag an einer Ahornsirupkrankheit verstorbener weiblicher Säugling konnte pathologisch-anatomisch untersucht werden. Eine Schwester war 2 Jahre zuvor am 10. Lebenstag an derselben Erkrankung gestorben. Die Geschwister entstammen einer Ehe, bei der sowohl auf der väterlichen als auch auf der mütterlichen Seite eine latente familiäre Störung im Bereich des Aminosäurenstoffwechsels vorliegt.
Morphologisch können als Ausdruck der Aminosäurenstoffwechselstörung folgende Befunde erhoben werden:
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1.
Im Zentralnervensystem eine gestörte Markreifung vor allem der stammesgeschichtlich jungen Gehirnanteile, in der weißen Substanz des Gehirns ein feinporiger, im Bereiche der Brücke, der grauen Substanz und des Nebennierenmarkes ein grobporiger Status spongiosus;
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2.
in den Maschenräumen histochemisch schwach PAS-positive, leicht wasserlösliche, eiweißreiche Flüssigkeit;
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3.
Ablagerung von kristallinen Eiweißkörpern in den Gliazellen sowie in den Räumen des Status spongiosus;
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4.
Leber- und Harnkanälchenepithelien-Vacuolisierung. In frischen Gefrierschnitten in den Vacuolen teilweise auskristallisierte und büschelförmig angeordnete Eiweißkörper. Nach Alkoholfixierung in zahlreichen Organen kleinere kristalline Strukturen im Bereiche der Zellkerne, deren Menge von der Intensität des Eiweißstoffwechsels der einzelnen Gewebe abhängig zu sein scheint.
Summary
A necropsy was performed on an infant girl which died on the eighth day of life with maple syrup disease. Two years before a sister had died at ten days of age with the same disease. These two siblings were born of a marriage, in which the mother's as well as the father's family revealed a latent disturbance of amino acid metabolism. The following findings are regarded as morphological expressions of disturbed amino acid metabolism:
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1.
In the central nervous system there was a disturbed maturation of the white matter, especially of the phylogenetically young parts of the brain; in the white substance of the brain there was a finely porous Status spongiosus, and in the region of the pons, the gray matter, and the adrenal medulla there was a coarsely porous Status spongiosus.
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2.
In the retiform spaces there was a weakly PAS positive, slightly water soluble, protein rich fluid.
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3.
In the cytoplasma of gliacells there is a storage of crystallized proteins, if the material is unfixed or only treated with ethanol.
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4.
There was vacuolization of the hepatic and renal tubular epithelia. In fresh frozen sections there were partially crystallized protein bodies arranged in tufts located in the vacuoles. After alcohol fixation, in many organs there were smaller crystalline structures in the region of the cell nucleus. The amount of these structures appeared to be dependent upon the intensity of the protein metabolism of the respective tissue.
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Diezel, P.B., Martin, K. Die Ahornsirupkrankheit mit familiärem Befall. Virchows Arch. path Anat. 337, 425–445 (1964). https://doi.org/10.1007/BF00957687
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DOI: https://doi.org/10.1007/BF00957687