Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

Abstract:

:A 56-day-old infant with alpha-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron microscope studies showed that neurons in the cerebral and cerebellar corticies, and the thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were found only in the neurons of the spinal cord. The neurons in the paraganglion and in the Auerbach's myenteric plexus were also distended with numerous membrane-bound vacuoles. Hepatocytes, endothelial cells and Kupffer cells in the liver and glomerular and tubular epithelial cells in the kidney were swollen with a number of vacuoles, although the patient showed none of the clinical features of renal involvement. These pathological changes were similar to those in nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819-829 (1978)].

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Yamano T,Shimada M,Matsuzaki K,Matsumoto Y,Yoshihara W,Okada S,Inui K,Yutaka T,Yabuuchi H

doi

10.1007/BF00688050

subject

Has Abstract

pub_date

1986-01-01 00:00:00

pages

278-84

issue

3-4

eissn

0001-6322

issn

1432-0533

journal_volume

71

pub_type

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