acid-phosphatase and Gangliosidoses

A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

Topics: Acid Phosphatase; Female; Ganglia; Gangliosidoses; Humans; Leukodystrophy, Metachromatic; Lipofuscin; Lysosomes; Macrophages; Middle Aged; Pigment Epithelium of Eye; Retina; Schwann Cells; Vacuoles

Topics: Acid Phosphatase; Animals; Cattle; Cattle Diseases; Cells, Cultured; Fibroblasts; Gangliosidoses; Histocytochemistry; Humans; Hydrogen-Ion Concentration; Skin

Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. Diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical Tay-Sachs disease. Her clinical manifestation appeared to be similar but somewhat milder than those of classical Tay-Sachs disease. Light microscopic features of the cerebral biopsy were also closely similar to Tay-Sachs disease and Sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical Tay-Sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.

Topics: Acetylglucosaminidase; Acid Phosphatase; Astrocytes; Brain Chemistry; Capillaries; Cerebral Cortex; Female; G(M2) Ganglioside; Galactosidases; Gangliosidoses; Humans; Inclusion Bodies; Infant; Lipidoses; Neuroglia; Neurons