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.

Topics

• DNA, Mitochondrial
• Humans
• Lipomatosis
• Lipomatosis, Multiple Symmetrical
• MERRF Syndrome
• Mutation
• Optic Nerve Diseases