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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.
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
January 2015,
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
July 1995,
American journal of medical genetics,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
May 1986,
Clinical genetics,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
January 1988,
Journal of inherited metabolic disease,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
April 1990,
European journal of pediatrics,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
January 1996,
Brain & development,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
April 2003,
Pediatric neurology,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
February 1999,
American journal of medical genetics,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
January 1986,
Prenatal diagnosis,
S M Pueschel, and
P A O'Shea, and
J Alroy, and
M W Ambler, and
F Dangond, and
P F Daniel, and
E H Kolodny
January 2000,
Ryoikibetsu shokogun shirizu,
