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

• Autorzy: Martyna Domańska , Emilia J. Sitek , Michał Schinwelski , Maria Mazurkiewicz-Bełdzińska , Agnieszka Matheisel , Jarosław Sławek
• Języki publikacji: EN

Abstrakty

EN

Introduction. 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. Description of case. 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. Discussion. 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. Conclusion. 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.

Słowa kluczowe

EN

MERRF; epilepsy; myoclonus; mitochondrial diseases; cognitive impairment

• Czasopismo: Journal of Epileptology
• Rocznik: 2015
• Tom: 23
• Numer: 1
• Strony: 69-74

Daty

wydano

2015-06-01

otrzymano

2015-01-24

zaakceptowano

2015-04-30

online

2015-05-16

Twórcy

autor

Martyna Domańska

• Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland,
• Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland

autor

Emilia J. Sitek

• Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland
• Neurological and Psychiatric Nursing Department, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland

autor

Michał Schinwelski

• Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland

autor

Maria Mazurkiewicz-Bełdzińska

• Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland

autor

Agnieszka Matheisel

• Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland

autor

Jarosław Sławek

• Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland
• Neurological and Psychiatric Nursing Department, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland

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Identyfikatory

DOI

10.1515/joepi-2015-0026