The fine structure of cytoplasmic inclusions in brain and other visceral organs in Sandhoff disease.

This paper describes an 11-month-old male who died of Sandhoff disease. Diagnosis was based on detection of cherry red spots and total deficiency of hexosaminidase A and B activities. Sections of the brain revealed swollen neuronal cells and their degeneration and disappearance, leaving a distorted cortical architecture. Ultrastructurally, numerous inclusions showing concentric lamellar or stacked lamellar profiles were found in ballooned neuronal cells, astrocytes and histiocytes. The parafoveal retina in the region of the cherry red spot contained ballooned ganglion and amacrine cells filled with PAS and LFB positive granules. Electron microscopically, these cells showed a greater accumulation of inclusions with stacked lamellar profiles, than the concentric lamellar ones, of classically membranous cytoplasmic bodies (MCB). Hepatocytes and Kupffer cells and epithelial cells of renal glomeruli contained pleomorphic inclusions. Biochemical analysis by thin-layer chromatography of lipid extracts from the cerebral cortex showed a marked increment of the GM2 fraction, without an increase in globoside.

Neutrophilic polymorphonuclear leucocytes in obese children. Studies by Sudan Black B and electron microscope.

In 378 obese and 35 control children, a patho-histometric study was performed regarding the relation of the morphology of neutrophilic polymorphonuclear leucocytes(PMNL) to obesity. Sudan Black B staining studies were undertaken to compare the change in PMNL in obese and nonobese childhood groups. The size and density of the cytoplasm of the PMNL were greater in the obese group. The average diameter of PMNL was 14.2 +/- 0.1 micra in the obese group and 13.6 +/- 0.2 in the control group. The electron microscopic feature of PMNL in the obese group included an increase in the number of the specific granules with diameter of 0.1 to 0.2 micron. These PMNL in obesity may be correlated with changes in the serum or hepatic lipid levels. An elevation of cholesterol, triglyceride, and beta-lipoprotein in the serum was found in obese children. The hepatic function was abnormal only in advanced degree of obesity.

A high skin protoporphyrin level in erythropoietic protoporphyria.

A high skin protoporphyrin level (4.36 micrograms/g wet weight) was detected in a 14-year-old girl with erythropoietic protoporphyria who died of protoporphyrin hepatopathy cirrhosis. Excess protoporphyrin was detected in the skin by our assay technique which was assumed to cause severe skin photosensitivity.