This paper is a histochemical and ultrastructural study of a case of mucopolysaccharidosis with certain clinical and morphological peculiarities. The patient was a 3-year-old girl with a congenital cataract of the right eye; the onset at the age of one was marked by epileptic seizures, accentuated hypotonia, and progressive psychic degradation. Optical microscopy of a cerebral biopsy specimen revealed ballooning of the neurons, swollen dendrites, vacuolized cytoplasm, and excentric nucleus. PAS staining showed an intensely positive material in the grey matter. Ultrastructural aspects were the presence of lamellar bodies, granulo-membrano-vacuolar bodies, low electron-dense vacuoles, and a special aspect of membranous body conglomerates with a peculiar orientation of the membranes. The presence of nuclear bodies in the astrocytes is described. Listing of this case among the existing classification types is discussed.

Keywords:
Mucopolysaccharidoses, Congenital cataract, Histochemical and ultrastructural aspects, Nuclear bodies
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© 1973 S. Karger AG, Basel
1973
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