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2015 | 23 | 1 | 69-74
Tytuł artykułu

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

Treść / Zawartość
Warianty tytułu
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.
Wydawca

Rocznik
Tom
23
Numer
1
Strony
69-74
Opis fizyczny
Daty
wydano
2015-06-01
otrzymano
2015-01-24
zaakceptowano
2015-04-30
online
2015-05-16
Twórcy
  • Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland, m.gren@wp.pl
  • Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland
  • 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
  • Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland
  • Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland
  • 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
  • Neurological and Psychiatric Nursing Department, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland
Bibliografia
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  • Bosbach S., Kornblum C., Schroder R., Wagner M.:Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns–Sayre syndrome. Brain, 2003, 126: 1231–1240.
  • Finsterer J.:Cognitive decline as a manifestation of mitochondrial disorders(mitochondrial dementia). Journal of the Neurological Sciences, 2008, 272: 20–33.
  • Finsterer J.:Mitochondrial disorders, cognitive impairment and dementia. Journal of the Neurological Sciences, 2009, 283: 143–148.
  • Gillham R.A., Read C.L., McKee P.J.W., Larkin J.G., Brodie M.J.:Cognitive function in adult epileptic patients on longterm sodium valproate. Journal of Epilepsy, 1991, 4: 205–210.
  • Hirano M., DiMauro S.:Clinical features of mitochondrial myopathies and encephalomyopathies. Gene Revievs, 2015.
  • Kartsounis L.D., Troung D.D., Morgan-Hughes J.A., Hearding A.E.:The neuropsychological features of mitochondrial myophaties and encepalomyopathies. Archives of Neurology, 1992, 49: 158–160.
  • Kaufmann P., Shungu D.C., Sano M.C., Jhung S., Engelstad K., Mitsis E. et al.:Cerebral lactic acidosis correlates with neurological impairement in MELAS. Neurology, 2004, 62: 1297–1302.[Crossref]
  • Koo D.L., Hwang K.J., Kim D., Kim Y.J., Kim J.Y., Shin W. et al.:Effects of Levetiracetam Monotherapy on the Cognitive Function of Epilepsy Patients. Eur. Neurol., 2013, 70: 88–94.
  • Lang C.J., Brenner P., Heussa D., Engelhardt A., Reichmann H., Seibel P. et al.:Neuropsychological status of mitochondrial encephalomyopathies. European Journal of Neurology, 1995, 2: 171–176.[Crossref]
  • Lezak M.D.:IQ: RIP. Journal of Clinical and Experimental Neuropsychology, 1988, 10: 351–361.[Crossref]
  • Meador K.J., Baker G.A., Browning N., Clayton-Smith J., Combs-Cantrell D.T., Cohen et al.:Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. New England Journal of Medicine, 2009, 360: 1597–1605.[WoS]
  • Patat A., Klein M.J., Surjus A., Rostand A., Granier J.:Study of Effects of Clobazam and Lorazepam on Memory and Cognitive Functions in Healthy Subjects. Human Psychopharmacology: Clinical & Experimental, 1991, 3: 229–241.
  • Sartor H., Loose R., Tucha O., Klein H.E., Lange K.W.:MELAS: a neuropsychological and radiological follow-up study. Acta Neurologica Scandinavica, 2002, 106: 309–313.
  • Turconi A.C., Benti R., Castelli E., Pohintesta S., Felisari G., Comi G. et al.:Focal Cognitive impairement in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study. Journal of Neurological Sciences, 1999, 170: 57–63.
  • Wheless J.W., Phelps S.J.:Clobazam: A newly approved but well-established drug for the treatment of intractable epilepsy syndromes. Journal of Child Neurology, 2013, 28: 219–229.[WoS]
  • Zeviani M., Carelli V.:Mitochondrial disorders. Current Opinion in Neurology, 2007, 20: 564–571.[WoS]
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_1515_joepi-2015-0026
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