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Kocher-Debré-Sémélaigne syndrome and congenital nystagmus
Abstract
A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient is believed to be unique.
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