Summary
A case of adult type mucolipidosis with β-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony deformities, vacuoles in the peripheral lymphocyte and foamy cells in the bone marrow were also noted. Biopsy study of the sural nerve and vermiform appendix disclosed many vacuoles in almost every kind of cells, although the accumulated substance in these vacuoles could not be characterized histochemically or ultrastructurally. Deficient leukocyte β-galactosidase and sialidase were confirmed. There was increased urinary sialoglycopeptide and increased siliac acid and hexosamine in the glycoprotein of lymphocytes. Leukocytes sialidase activities of the parents were 30 to 50% of the control values. These results suggest a genetic defect of sialidase.
Zusammenfassung
Ein Fall der Mukolipidose im Erwachsenenalter mit β-Galaktosidase-und Sialidasemangel wurde bemerkt. Die Patientin, ein zwanzigjähriges Fräulein, wies Intelligenzmangel, Kornealtrübung, Gargoylismus, zerebellare Ataxie, Myoklonus und Konvulsion auf, die im Alter von 14 Jahren auftraten. Die skeletale Deformität und die Vakuolenbildung in peripheren Lymphocyten und in förmigen Zellen im Knochenmark waren auch bemerkbar. Bei Probeuntersuchungen des N.suralis und Appendix vermiformis wurden viele Vakuolen in fast allen Zellen gefunden, aber das gespeicherte Material in diesen Vakuolen konnte durch enzymhistochemische und ultrastrukturelle Untersuchungen nicht charakterisiert werden. Die Mängel der β-Galaktosidase und der Sialidase in Leukozyten wurden bemerkt. Es gab vermehrtes Sialylglykopeptid im Harn und Sialylsäure und Hexosamin im Glykoprotein der Lymphozyten. Leukozytensialidase der Eltern wurde in 30–50% der normalen Menge gefunden. Dieses Resultat ergibt, daß unser Fall einen genetischen Defekt der Sialidase aufweist.
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This work was supported by a grant from the Japanese Ministry of Health and Welfare
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Kobayashi, T., Ohta, M., Goto, I. et al. Adult type mucolipidosis with β-galactosidase and sialidase deficiency. J. Neurol. 221, 137–149 (1979). https://doi.org/10.1007/BF00313045
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DOI: https://doi.org/10.1007/BF00313045