Sage Journals: Discover world-class research

Abstract

We report a 15-year-old boy who presented with recurrent headaches associated with numbness, confusion, and speech difficulty. Brain magnetic resonance imaging (MRI) revealed diffuse bilateral white-matter hyperintensity on fluid-attenuated inversion-recovery and T₂-weighted images in the internal capsule, periventricular and subcortical white matter, base of the pons, and middle cerebellar peduncles. Lesions were isointense on T₁weighted images and nonenhancing. Muscle biopsy showed changes consistent with a mitochondrial myopathy. Mitochondrial respiratory chain enzyme activity analysis revealed a significant reduction in complex II activity. Genetic testing was negative. We conclude that mitochondrial encephalomyopathy may present with unusual diffuse supratentorial and infratentorial white-matter changes on MRI. (J Child Neurol 2002;17:47-49).

Get full access to this article

View all access options for this article.

References

Evans OB , Parker CC , Haas RH , et al: Inborn errors of metabolism of the nervous system, in Bradley WG , Daroff RB , Fenichel GM , Mars-den CD (eds): Neurology in Clinical Practice. Butterworth Heinmann, 2000.

Pavlakis SJ , Phillips P. , DiMauro S. , et al: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode: A distinctive clinical syndrome. Ann Neurol 1984;16:481-488.

Nishino I. , Komatsu M. , Kodama S. , et al: The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. (MELAS) . Muscle Nerve 1996;19:1603-1604.

Santorelli FM , Tanji K. , Kulikova R. , et al: Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 1997;238:326-328.

Pulkes T. , Eunson L. , Patterson V. , et al: The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 1999;46:916-919.

Hanna MG , Nelson IP , Morgan-Hughes JA , Wood NW : MELAS: A new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 1998; 65:512-517.

de Coo IF , Sistermans EA , de Wijs IJ , et al: A mitochondrial tRNA (Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes. Neurology 1998; 50:293-295.

Taylor RW , et al: MELAS associated with a mutation in the transfer RNA gene of mitochondrial DNA. Ann Neurol 1996;40:459-462.

Huang CC , Wai YY , Chu NS , et al: Mitochondrial encephalomyopathies: CT and MR findings and correlations with clinical features. Eur Neurol 35:199-205.

10.

Sue CM , Crimmins DS , Soo YS , et al: Neuroradiological features of six kindreds with MELAS tRNA (Leu) A2343G point mutation: Implication for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233-240.

11.

Kim IO , Kim JH , Kim WS , et al: Mitochondrial myopathy-encephalopathy-lactic acidosis-and stroke-like episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol 1996;166:641-645.

12.

Barkovich JA , Good WV , Koch TK , Berg BO : Mitochondrial disorders: Analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993;14:1119-1137.

13.

Sandhu FS , Dillon WP : MR demonstration of leukencephalopathy associated with mitochondrial encephalomyopathy: Case report. AJNR Am J Neuroradiol 1991; 12:375-379.

Diffuse Magnetic Resonance Imaging White-Matter Changes in a 15-Year-Old Boy With Mitochondrial Encephalomyopathy

Abstract

Get full access to this article

References