Polyglucosan Diseases

This group of carbohydrate metabolic diseases is distinguished by the presence of polyglycosan bodies. These

figure 9.15

Galactosemia. A newborn boy was severely jaundiced, and his feeding was difficult because of frequent vomiting. In early childhood, his development was very slow and, after a few years, became arrested. At 7 years of age, he was physically underdeveloped and severely mentally retarded. Bilateral cataracts were diagnosed a few years later. He suffered from hypoglycemic episodes, frequent convulsions, and status epilepticus.

When he was 13 years old galactosemia was diagnosed in his newborn brother. An enzyme assay was performed on him at this time and confirmed his diagnosis of galactosemia. Dietary restriction of galactose was begun, but had no effect on his condition. At age 25 years, he died.

A. The liver is small and cirrhotic and shows (B) atrophy of the hepatic lobules and prominent perilobular fibrosis (HE). C. The hippocampus shows extensive neuronal losses. D. Severe Purkinje cell losses are present in the cerebellum (Cresyl-violet). E. Basal ganglia shows basophilic mineral granules in vessel's wall and parenchyma (HE).

figure 9.15

Galactosemia. A newborn boy was severely jaundiced, and his feeding was difficult because of frequent vomiting. In early childhood, his development was very slow and, after a few years, became arrested. At 7 years of age, he was physically underdeveloped and severely mentally retarded. Bilateral cataracts were diagnosed a few years later. He suffered from hypoglycemic episodes, frequent convulsions, and status epilepticus.

When he was 13 years old galactosemia was diagnosed in his newborn brother. An enzyme assay was performed on him at this time and confirmed his diagnosis of galactosemia. Dietary restriction of galactose was begun, but had no effect on his condition. At age 25 years, he died.

A. The liver is small and cirrhotic and shows (B) atrophy of the hepatic lobules and prominent perilobular fibrosis (HE). C. The hippocampus shows extensive neuronal losses. D. Severe Purkinje cell losses are present in the cerebellum (Cresyl-violet). E. Basal ganglia shows basophilic mineral granules in vessel's wall and parenchyma (HE).

round or spheroid filamentous aggregates, measuring 1 to 30 microns in diameter, occur in the central and peripheral nervous system and various organs. They have a basophilic core in hematoxylin-eosin (HE)-stained section, stain intensely with PAS and Alcian blue, and immunoreact for ubiquitin.

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