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Eugen Boltshauser, MD
Department of Neurology Children's University Hospital CH-8032 Zürich, Switzerland

Arch Neurol. 1980;37(4):256.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

To the Editor.—

Goodhue et al recently described (ARCHIVES 36:481-484, 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 . . . [Full Text PDF of this Article]

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