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Table of Contents    
LETTER TO EDITOR
Year : 2016  |  Volume : 64  |  Issue : 2  |  Page : 336-338

Expanding the clinical spectrum of myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) episode: A case with A3243G mitochondrial DNA mutation presenting as MELAS and congenital melanocytic naevi overlap


1 Department of Neurology, Laboratory of Neuromuscular Disorders, Qilu Hospital of Shandong University, Jinan, Shandong, China; Department of Neurobiology, Kavli Institute for Neuroscience, Yale University School of Medicine, CT, USA
2 Department of Neurology, Laboratory of Neuromuscular Disorders, Qilu Hospital of Shandong University, Jinan, China
3 Department of Neurology, Laboratory of Neuromuscular Disorders, Qilu Hospital of Shandong University; Key Laboratory for Experimental Teratology of the Ministry of Education, School of Medicine, Shandong University; Brain Science Research Institute, Jinan, Shandong, China

Date of Web Publication3-Mar-2016

Correspondence Address:
Chuanzhu Yan
Department of Neurology, Laboratory of Neuromuscular Disorders, Qilu Hospital of Shandong University; Key Laboratory for Experimental Teratology of the Ministry of Education, School of Medicine, Shandong University; Brain Science Research Institute, Jinan, Shandong
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.177607

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How to cite this article:
Liu F, Zhang D, Yan C. Expanding the clinical spectrum of myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) episode: A case with A3243G mitochondrial DNA mutation presenting as MELAS and congenital melanocytic naevi overlap. Neurol India 2016;64:336-8

How to cite this URL:
Liu F, Zhang D, Yan C. Expanding the clinical spectrum of myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) episode: A case with A3243G mitochondrial DNA mutation presenting as MELAS and congenital melanocytic naevi overlap. Neurol India [serial online] 2016 [cited 2020 Oct 20];64:336-8. Available from: https://www.neurologyindia.com/text.asp?2016/64/2/336/177607


Sir,

We report a case of an 18-year-old boy who presented with myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and congenital melanocytic naevi. The first attack occurred at the age of 12 years when he started to have generalized tonic-clonic seizures combined with nausea and vomiting, which were successfully controlled with anti-epileptic drugs. Poor vision and hearing impairment gradually evolved. No family history of a similar condition was reported. His scholastic performance was below average. Physical examination revealed a short statured male patient of height 163 cm and weight 45 kg. Hairy melanocytic nevus, covering the back, waist, hip, and proximal-distal lower extremities were observed [Figure 1]a. These lesions were present at birth and became darker and more hairy with age [Figure 1]b. At the age of 16 years, surgical removal of the back lesions was done which eventually resulted in scarring [Figure 1]c. Our physical examination showed slurred speech, poor vision, and hearing impairment. Moderate mental retardation with bilateral sensorineural hearing impairment and right homonymous hemianopia were observed. Muscle bulk, tone, and strength were symmetrically reduced. Deep tendon reflexes were decreased and sensory function was intact. Serum lactate was elevated at 5.2 mM (normal <1 .55 mM) as was his cerebrospinal fluid lactate at 6.8 mM. Computed tomography brain scan showed bilateral basal ganglia calcification. Brain magnetic resonance imaging (MRI) scan showed a typically hypointense lesion on T1-weighted image, hyperintense on T2-weighted image, and hyperintense on diffusion-weighted imaging in the region of left temporo-parieto-occipital lobes [Figure 2]a,[Figure 2]b,[Figure 2]c,[Figure 2]d,[Figure 2]e. Gadolinium contrast-enhanced MRI showed mild vascular enhancement. Magnetic resonance spectroscopy detected higher than normal lactic acid concentration in the abnormal brain area [Figure 2]f. Muscle biopsy [Figure 3]a,[Figure 3]b,[Figure 3]c,[Figure 3]d showed an obvious variation in fiber size, but no necrotic or regenerating fibers. About 10% basophilic fibers could be detected on haematin-eosin stain. Modified Gomori trichrome stain revealed ragged red fibers, and cytochrome C oxidase (CCO) staining showed abnormal accumulation of mitochondria. Succinate dehydrogenase (SDH) staining showed ragged blue fibers (~15%) and SDH strongly reactive vessels. Combined stain of CCO/SDH revealed a few blue fibers. Mitochondrial DNA (mtDNA) sequence analysis demonstrated the A3243G mtDNA mutation [Figure 4]. Congenital melanocytic nevi are pigment cell malformations that are visible at birth, or are nevi showing congenital features that become clinically obvious shortly after birth.[1] Mitochondrial dysfunction plays a key role in the pathogenesis of malignant melanoma.[2] Our case reported here expanded the clinical spectrum of MELAS.
Figure 1: Representative clinical pictures. Obvious congenital melanocytic nevus covering the back, waist, hip, and proximal and distal lower extremities (a). These lesions became more hairy with age (b), Scar resulting from surgical removal also can be noted (c)

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Figure 2: Computed tomography scan showed bilateral basal ganglia calcification (a), T1 (b) and T2 (c) weighted axial images and diffusion-weighted image (d) showing abnormal signal in the region of left temporo-parieto-occipital lobes. Gadolinium contrast-enhanced magnetic resonance imaging showed mild vascular enhancement (e) and magnetic resonance spectroscopy detecting higher than normal lactic acid concentration in the abnormal brain area (f)

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Figure 3: Representative light microscopy images. Basophilic fibres on hematoxylin and eosin stain (a); typical ragged red fibers (modified Gomori trichrome stain b), ragged blue fibers and succinate dehydrogenase strongly reactive vessels (succinate dehydrogenase stain (c). Cytochrome C oxidase/succinate dehydrogenase double stain (d) showed a few blue fibers

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Figure 4: Sequence mitochondrial DNA confirming the A3243G mutation in muscle DNA

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Financial support and sponsorship

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Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Rhodes AR, Albert LS, Weinstock MA. Congenital nevomelanocytic nevi: Proportionate area expansion during infancy and early childhood. J Am Acad Dermatol 1996;34:51-62.  Back to cited text no. 1
    
2.
Takeuchi H, Fujimoto A, Hoon DS. Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients. Ann N Y Acad Sci 2004;1022:50-4.  Back to cited text no. 2
    


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