Landing Disease, Gm1 Generalized Gangliosidosis, and Malabsorption Syndrome

A case of beta galactosidase deficiency is described in a 20-month-old boy. The child was hospitalized at 4 months of age for malabsorption syndrome. Biopsies of the small intestine and liver were performed and electron microscopy of the liver specimens strongly suggested a gangliosidosis. The cytop...

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Veröffentlicht in:	Fetal and pediatric pathology 1989, Vol.9 (4), p.467-473
Hauptverfasser:	Kordysz, Ewa, Wo niewicz, Bogdan
Format:	Artikel
Sprache:	eng
Schlagworte:	Edema - complications Edema - pathology electron microscopy G(M1) Ganglioside - metabolism Galactosidases - deficiency Gangliosidoses - diagnosis Gangliosidoses - metabolism Gangliosidoses - pathology Humans Hypoproteinemia - complications Hypoproteinemia - pathology inborn errors Infant intestinal biopsy Intestine, Small - pathology Intestine, Small - ultrastructure Liver - pathology Liver - ultrastructure liver biopsy Malabsorption Syndromes - diagnosis Malabsorption Syndromes - etiology Malabsorption Syndromes - pathology Male metabolic disease Microscopy, Electron Mucous Membrane - diagnostic imaging Mucous Membrane - pathology Norman-Landing disease Radiography
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