In:
Proceedings, annual meeting, Electron Microscopy Society of America, Cambridge University Press (CUP), Vol. 26 ( 1968-09), p. 182-183
Abstract:
A white girl, age 7 months, had hepatosplenomegaly, ascites, prominent abdominal veins, rickets, unusually fine hair, and hypochromic-microcytic anemia. The only episode of jaundice was between age one and three weeks. Hepatomegaly was noted at age six months. Urinary methionine was as high as 100 μg/cc while other amino acids were within normal limits. Bio-chemical analysis of the hepatic needle biopsy specimen revealed glycogen concentration of 5.4% of wet tissue weight. Light microscopy of the biopsy specimen showed portal cirrhosis, fatty change and many coarse granules resistant to diastase, glucosidase, phospholipase, ribonuclease, trypsin, pepsin, pectinase, hialuronidase, glucuronidase, and lipoxidase, and demonstrable only with PAS, Eosin, and burnt Sudan black stain. On electron microscopy, these coarse granules were probably represented by fused mitochondria with their internal structures replaced by an amorphous substance. Numerous other mitochondria had a coarsely flocculent matrix. There were many large lipid droplets. Membranes of the endoplasmic reticulum frequently were arranged on either side of a single row of jagged granules about 100 mμ in diameter and staining black with uranyl acetate and lead hydroxide (Top picture).
Type of Medium:
Online Resource
ISSN:
0424-8201
,
2690-1315
DOI:
10.1017/S0424820100100652
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
1968
SSG:
11
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