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

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.