Shy-Gonatas Syndrome 1
General: Unknown etiology; similar to 535b12f Hunter and Refsum syndromes; accumulation of lipids in muscles simulates gargoylism; present from birth.
Ocular: Mild proptosis; hypertelorism; ptosis; external ophthalmoplegia (progressive); concentric visual field constriction; keratopathy with possible corneal ulcer; lattice-like white opacities in the area of Bowman membrane; retinal pigmentary degeneration (atypical retinitis pigmentosa) with difficulties with night vision.
Clinical: Weakness of extremities (proximal); myopathy and neuropathy; cerebellar ataxia.
Geeraets WJ Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.
Gonatas NK. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure. Am J Med 1967; 42: 169.
Shy GM, et al. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics. Am J Med 1967; 42:163.
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