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Case Reports
. 2017 Jul-Aug;8(4):337-341.
doi: 10.18869/nirp.bcn.8.4.337.

A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case

Mostafa Almasi  1 , Mohammad Reza Motamed  1 , Masoud Mehrpour  1 , Bahram Haghi-Ashtiani  1 , Fahimeh Haji Akhondi  1 , Yalda Nilipour  2 , Seyed-Mohammad Fereshtehnejad  3
Affiliations
Case Reports

A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case

Mostafa Almasi et al. Basic Clin Neurosci. 2017 Jul-Aug.

Abstract

Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus.

Case presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by Wernicke aphasia and, then, right hemiparesis. Investigations showed elevated arterial lactate and ragged red fibers on muscle biopsy.

Conclusion: Though more commonly diagnosed during childhood, some cases of adult-onset MELAS syndrome are reported. This syndrome should be considered in patients with stroke-like events in adults without cerebrovascular risk factors and difficult-to-treat seizures.

Keywords: MELAS Syndrome; Middle age; Mitochondrial disorder.

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Conflict of interest statement

Conflict of Interest The authors declared no conflicts of interest.

Figures

Figure 1
Figure 1
Pure tone audiogram, sensorineural hearing loss (blue line: Air conduction, red line: Bone conduction).
Figure 2
Figure 2
A) Axial t2-weighted brain MRI; hypersignaling in left parietooccipital lobes with mass effect; B) Axial diffusion-weighted MRI and ADC show water restriction in left parietooccipital lobes related to acute ischemia; C) Brain MRV shows no abnormality in dural sinuses; D) Coronal t1-weighted brain MRI with contrast injection; hypo-signality in left parietooccipital lobes with mass effect on lateral ventricle without contrast enhancement. (ADC: Apparent Diffusion Coefficient; MRV: Magnetic Resonance Venography)
Figure 3
Figure 3
Biopsy specimen from deltoid muscle: A) H & E staining (400×); fiber size variation with few internalized nuclei and cytoplasmic basophilic discoloration; B) Modified TG staining (400×): ragged red fiber; C) & D) Abnormal peripheral proliferation of mitochondria in SDH staining and no detection of COX negative fiber in combined COX and SDH staining (400×). (H & E: Hematoxylin and Eosin; SDH: Succinate Dehydrogenase; TG : Gomori Trichrome; COX: Cytochrome C Oxidase)
See this image and copyright information in PMC

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