<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0026_s_001"><h3>Introduction</h3><p>Myoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.</p></sec><sec id="j_joepi-2015-0026_s_002"><h3>Description of case</h3><p>We present the case of an 18-year-old patient with progressive neurological symptoms such as multifocal myoclonus, cerebellar syndrome (gait impairment, intention tremor, ataxia and dysmetria). The diagnosis of MERRF was confirmed at the age of 16. Neuropsychological examination showed slowing of verbal learning and deficient spontaneous recall with improvement on recognition as well as low verbal fluency.</p></sec><sec id="j_joepi-2015-0026_s_003"><h3>Discussion</h3><p>The authors discuss differential diagnosis of mitochondrial diseases (MIDs) in respect to cognitive function impairment and, in particular, to dementia: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), KSS (Kearns-Sayre syndrome), NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa and ptosis). The authors emphasize importance of comprehensive neuropsychological assessment in differential diagnosis of MIDs.</p></sec><sec id="j_joepi-2015-0026_s_004"><h3>Conclusion</h3><p>Mild and selective cognitive impairment was identified. The type and degree of cognitive function impairment is not sufficient to diagnose dementia in this particular case of MERRF. Comprehensive neuropsychological assessment is crucial in MID in order to provide the patient with useful recommendations for education planning.</p></sec></abstract>

IntroductionMyoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.Description of caseWe present the case of an 18-year-old patient with progressive neurological symptoms such as multifocal myoclonus, cerebellar syndrome (gait impairment, intention tremor, ataxia and dysmetria). The diagnosis of MERRF was confirmed at the age of 16. Neuropsychological examination showed slowing of verbal learning and deficient spontaneous recall with improvement on recognition as well as low verbal fluency.DiscussionThe authors discuss differential diagnosis of mitochondrial diseases (MIDs) in respect to cognitive function impairment and, in particular, to dementia: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), KSS (Kearns-Sayre syndrome), NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa and ptosis). The authors emphasize importance of comprehensive neuropsychological assessment in differential diagnosis of MIDs.ConclusionMild and selective cognitive impairment was identified. The type and degree of cognitive function impairment is not sufficient to diagnose dementia in this particular case of MERRF. Comprehensive neuropsychological assessment is crucial in MID in order to provide the patient with useful recommendations for education planning.

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

Journal of Epileptology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

IntroductionMyoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central...

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

Published Online: Jan 02, 2015

Page range: 69 - 74

Received: Jan 24, 2015

Accepted: Apr 30, 2015

DOI: https://doi.org/10.21307/joepi-2015-0026

Keywords
MERRF, epilepsy, myoclonus, mitochondrial diseases, cognitive impairment

© 2015 Martyna Domańska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

Published Online: Jan 02, 2015

Page range: 69 - 74

Received: Jan 24, 2015

Accepted: Apr 30, 2015

DOI: https://doi.org/10.21307/joepi-2015-0026

KeywordsMERRF, epilepsy, myoclonus, mitochondrial diseases, cognitive impairment

© 2015 Martyna Domańska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
MERRF, epilepsy, myoclonus, mitochondrial diseases, cognitive impairment