Infantile sialic acid storage disease associated with renal disease.
Pediatr Neurol
; 4(4): 207-12, 1988.
Article
en En
| MEDLINE
| ID: mdl-3072006
ABSTRACT
A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated fetal ascites. At birth, the infant appeared hydropic and presented with numerous dysmorphic features, including sparse white hair, coarse facies, hypertelorism, epicanthal folds, anteverted nostrils, and a long philtrum. In addition, he had visceromegaly, bilateral inguinal hernias, and a slight gibbus deformity. Lymphocytes were vacuolated and bone marrow contained large numbers of foam cells. There were generalized vacuolations of both reticuloendothelial and parenchymal cells in the examined tissues. Neuropathologic studies revealed wide-spread neuronal storage, myelin loss, axonal spheroids, and gliosis. Neurons, endothelial cells, and Kupffer cells stained with wheat germ agglutinin indicated an accumulation of sialic acid. Free sialic acid was significantly increased in urine and serum, as well as in liver, heart, and brain tissues. The alpha-neuraminidase activity was normal. It is assumed that the basic defect of infantile sialic acid storage disease lies in impaired transport of sialic acid across the lysosomal membrane.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ácidos Siálicos
/
Enfermedades Renales
/
Enfermedades Metabólicas
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Infant
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
1988
Tipo del documento:
Article