Cortical blindness as a presentation of mitochondrial disease: A case report

Authors

  • Anthipa Chokesuwattanaskul King Chulalongkorn Memorial Hospital and Faculty of Medicine, Chulalongkorn University
  • Aurauma Chutinet King Chulalongkorn Memorial Hospital and Faculty of Medicine, Chulalongkorn University
  • Nijasri C. Suwanwela King Chulalongkorn Memorial Hospital and Faculty of Medicine, Chulalongkorn University

Keywords:

Mitochondrial disease, MELAS, Stroke-like episode, Cortical blindness

Abstract

We report a case of a 23-year-old male presenting with acute cortical blindness which developed in 3 days. He had a history of generalized tonic seizure for the last 3 years. Examination showed that the patient was confused, disoriented, and blind without other focal neurologic deficit. MRI of the brain showed a multi-stage infarction-like pattern predominately involving the cortical structures in many regions. Further investigation
revealed other organ systems involvement including diabetes mellitus, hyperlipidemia, sensorineural hearing loss, hypogonadotropic hypogonadism, and an elevated serum lactate level. A diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome was confirmed by the finding of a common mutation in the mitochondrial DNA m.3243A>G.
Conclusion: Mitochondrial disease, a rare genetic disorder, can present with common neurologic symptoms such as stroke, seizures, or diplopia. A High index of suspicion and a thorough examination of other organ systems are the keys to arriving at the correct diagnosis.

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Published

2020-08-25

How to Cite

1.
Chokesuwattanaskul A, Chutinet A, Suwanwela N. Cortical blindness as a presentation of mitochondrial disease: A case report. J Thai Stroke Soc [Internet]. 2020 Aug. 25 [cited 2024 Jun. 16];19(2):45. Available from: https://he01.tci-thaijo.org/index.php/jtss/article/view/242523

Issue

Section

Case Report