Macular cherry-red spot, myoclonus and progressive mental deterioration are described in a man of 16 years. Morphological examination of the liver, bone marrow and fibroblasts showed numerous vacuoles containing storage material in the cytoplasm of the cells. Twelve different oligosaccharides were isolated from urine and their structures were determined. All have N-acetylglucosamine in a reducing end and (2--3) and 2--6) neuraminic acid in the terminal position. This abnormal urinary oligosaccharide excretion is due to absence of (2--6) neuraminidase which was not detected in fibroblast culture. This case is discussed in relationship to other cases with macular cherry-red spot, myoclonus and oligosaccharide urinary excretion.
Federico, A., Cecio, A., Battini, G.A., Michalski, J.C., Strecker, G., Guazzi, G.C. (1980). Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis. JOURNAL OF THE NEUROLOGICAL SCIENCES, 48(2), 157-169 [10.1016/0022-510X(80)90197-5].
Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis
Federico, A.;
1980-01-01
Abstract
Macular cherry-red spot, myoclonus and progressive mental deterioration are described in a man of 16 years. Morphological examination of the liver, bone marrow and fibroblasts showed numerous vacuoles containing storage material in the cytoplasm of the cells. Twelve different oligosaccharides were isolated from urine and their structures were determined. All have N-acetylglucosamine in a reducing end and (2--3) and 2--6) neuraminic acid in the terminal position. This abnormal urinary oligosaccharide excretion is due to absence of (2--6) neuraminidase which was not detected in fibroblast culture. This case is discussed in relationship to other cases with macular cherry-red spot, myoclonus and oligosaccharide urinary excretion.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/27815
Attenzione
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo