Recurrent posterior reversible encephalopathy syndrome in mitochondrial disorder

Abstract

OBJECTIVES: Recurrent posterior reversible encephalopathy syndrome (PRES) has not been reported in association with multi-system mitochondrial disorder (MID). CASE REPORT: In a 60-year-old HIV-negative, Caucasian female with short stature, double vision, struma, memory impairment, chronic renal failure requiring hemodialysis, seizures, intermittent atrial fibrillation, arterial hypertension, hyperlipidemia, anemia, hypacusis, tinnitus, and a daughter with multiple sclerosis, short stature and hypothyroidism; another daughter with schizophrenia, and a son who died from encephalopathy at age 3 months, an MID was suspected. At age 53 years, she experienced sudden, transient blindness for 2 days bilaterally during an episode of high blood pressure with complete recovery within 2 weeks. At age 60 years, a similar episode occurred. Four weeks later, she experienced a third PRES episode with high blood pressure, seizures, impaired consciousness and reversible blindness for 2 days. MRI at the second episode was indicative of a PRES, and MRI at the third episode additionally revealed occipital bleedings, acute embolic stroke and features indicating PRES. CONCLUSIONS: This case indicates that MID may be associated with recurrent PRES, triggered by recurrent episodes of high blood pressure. Whether high blood pressure was a manifestation of the MID or related to other causes remains speculative. PRES does not seem to be a primary but is rather a secondary manifestation of an MID.