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- W1967793910 abstract "To the Editor.— Goodhue et al recently described (Archives36:481-484, 1979) a case of the rare form of juvenile spongy degeneration (SD). They stressed the unique concurrence of certain oculoendocrine defects. Unusual findings previously not associated with SD include (1) ocular signs (progressive external ophthalmoplegia, pigmentary degeneration of the retina), (2) endocrine abnormalities (diabetes mellitus, probable hyperaldosteronism), (3) cardiac conduction defect (right bundle-branch heart block), and (4) markedly short stature. They suggested that SD may be added to the spectrum of ophthalmoplegia plus syndromes. In my view, this case can be considered as a typical instance of Kearns-Sayre syndrome (or oculocraniosomatic neuromuscular disease), 1,2 from both the clinical and neuropathological points of view. This would easily explain all (neurological, ophthalmological, endocrine) findings. Unfortunately, Goodhue et al do not mention the CSF protein level (which probably is substantially elevated) and histochemical staining reactions of skeletal muscle. It is not evident whether" @default.
- W1967793910 created "2016-06-24" @default.
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- W1967793910 date "1980-04-01" @default.
- W1967793910 modified "2023-09-26" @default.
- W1967793910 title "Juvenile Form of Spongy Degeneration: An Instance of Kearns-Sayre Syndrome?" @default.
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- W1967793910 doi "https://doi.org/10.1001/archneur.1980.00500530094033" @default.
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