Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.

Two siblings born from consanguineous tunisian parents are reported. They showed a severe form of Farber's disease with prominent involvement of the central and peripheral nervous system: low conduction velocity was noticed in both children. Macular cherry red spots were observed in one of them.

The retina in Lafora disease: light and electron microscopy.

Lafora bodies are described in the retina of a 16 year old female who died five years after the onset of a typical familial progressive myoclonus epilepsy which was diagnosed as Lafora disease by brain biopsy and by autopsy findings. The patient was the offspring of consanguinous parents who had three affected siblings out of nine. The fine structure and distribution of Lafora bodies, which represent a specific non-lysosomal cell storage disorder, is reported for the first time in the human retina.

Ultrastructural studies of extraocular muscles in ocular motility disorders. II. Morphological analysis of 38 biopsies.

Thirty eight extraocular muscle biopsies obtained from thirty patients (1 normal and 29 affected with various kinds of ocular motility disorders such as strabismus, Duane's syndrome, paralysis), were studied by electron microscopy. Except for the control biopsy considered as normal, they showed: atrophy, disorganization of myofilaments, double Z-disks, rods, curving arrays of myofibrils, concentrically disposed electron-dense sarcotubules, clusters of mitochondria with numerous modifications of their cristae, and subsarcolemmal inclusions, such as dense bodies, laminated bodies, lipofuscin granules and lipid droplets. In addition, subsarcolemmal granulo-fibrillar aggregates, characterized by periodic granulated foci spaced at about 120 nm intervals, were seen in all the biopsies, even in that of the control case.