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Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Schinwelski M, Kierdaszuk B, Dulski J, Tońska K, Kodroń A, Sitek EJ, Bartnik E, Kamińska A, Kwieciński H, Sławek J - Metab Brain Dis (2014)

Bottom Line: Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes.This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurological and Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland, szyna777@gmail.com.

ABSTRACT
Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

No MeSH data available.


Related in: MedlinePlus

MRI T2 and Flair. Images (a) and (b) performed at the age of 22. (a) Hyperintensive lesion in right cerebral peduncle (b) hyperintensive cortical lesions in the frontal and parietal lobes bilaterally. Images (c) and (d) performed at the age of 26. (c) Hyperintensive lesion in left thalamus (d) symetrical dorsal hyperintensities of brainstem
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Fig1: MRI T2 and Flair. Images (a) and (b) performed at the age of 22. (a) Hyperintensive lesion in right cerebral peduncle (b) hyperintensive cortical lesions in the frontal and parietal lobes bilaterally. Images (c) and (d) performed at the age of 26. (c) Hyperintensive lesion in left thalamus (d) symetrical dorsal hyperintensities of brainstem

Mentions: Laboratory studies performed at the age of 22 showed a normal serum lactic acid level of 9.45 mg% with an abnormal lactic acid curve during ischaemic muscle exercise. Creatine kinase activity was within the normal range. A 50 min video EEG disclosed a pattern characteristic for myoclonic epilepsy. Visual evoked potentials showed delayed P100 responses. Electromyography and nerve conduction studies were within normal ranges. Magnetic Resonance Imaging (MRI) showed multifocal hyperintensive lesions on T2 and FLAIR images in the right cerebral peduncle, close to the occipital horns of the lateral ventricles, in the left temporal lobe as well as in both frontal and parietal lobes (Fig. 1, segment a and b). Additionally, Magnetic Resonance Spectroscopy (MRS) indicated elevated lactate levels within the previously specified areas.Fig. 1


Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Schinwelski M, Kierdaszuk B, Dulski J, Tońska K, Kodroń A, Sitek EJ, Bartnik E, Kamińska A, Kwieciński H, Sławek J - Metab Brain Dis (2014)

MRI T2 and Flair. Images (a) and (b) performed at the age of 22. (a) Hyperintensive lesion in right cerebral peduncle (b) hyperintensive cortical lesions in the frontal and parietal lobes bilaterally. Images (c) and (d) performed at the age of 26. (c) Hyperintensive lesion in left thalamus (d) symetrical dorsal hyperintensities of brainstem
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4491363&req=5

Fig1: MRI T2 and Flair. Images (a) and (b) performed at the age of 22. (a) Hyperintensive lesion in right cerebral peduncle (b) hyperintensive cortical lesions in the frontal and parietal lobes bilaterally. Images (c) and (d) performed at the age of 26. (c) Hyperintensive lesion in left thalamus (d) symetrical dorsal hyperintensities of brainstem
Mentions: Laboratory studies performed at the age of 22 showed a normal serum lactic acid level of 9.45 mg% with an abnormal lactic acid curve during ischaemic muscle exercise. Creatine kinase activity was within the normal range. A 50 min video EEG disclosed a pattern characteristic for myoclonic epilepsy. Visual evoked potentials showed delayed P100 responses. Electromyography and nerve conduction studies were within normal ranges. Magnetic Resonance Imaging (MRI) showed multifocal hyperintensive lesions on T2 and FLAIR images in the right cerebral peduncle, close to the occipital horns of the lateral ventricles, in the left temporal lobe as well as in both frontal and parietal lobes (Fig. 1, segment a and b). Additionally, Magnetic Resonance Spectroscopy (MRS) indicated elevated lactate levels within the previously specified areas.Fig. 1

Bottom Line: Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes.This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurological and Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland, szyna777@gmail.com.

ABSTRACT
Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

No MeSH data available.


Related in: MedlinePlus