Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.

Abstract excerpt

We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are typically thought of as a benign/isolated entity and this case emphasises importance of considering mitochondrial disease in all patients with lipomatosis especially in the presence of other systemic abnormalities.

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