SANDO: another presentation of mitochondrial disease

Abstract

Purpose To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction. Design Case report. Methods Case report and review of the literature. Results A 43-year-old man presented with a Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO). Nerve conduction studies showed a sensory ganglionopathy. Skeletal muscle biopsy revealed ragged red fibers, and polymerase chain reaction analysis of the tissue demonstrated multiple mitochondrial DNA deletions. Conclusion Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.