Guide To The Symptoms Of Kearns-Sayre Syndrome

Cerebral Folate Deficiency

Cerebral folate deficiency is a symptom in which there is a lower than normal level of 5-methyltetrahydrofolate in a patient's cerebrospinal fluid. Patients with Kearns-Sayre syndrome who have a cerebral folate deficiency may struggle with coordination, and they may have developmental delays, speech difficulties, and cognitive impairments that appear similar to autism. This deficiency could also cause seizures and low muscle tone for some patients. Symptoms associated with a cerebral folate deficiency typically begin within the first year of a patient's life.

To detect this type of deficiency, patients will have a lumbar puncture (spinal tap) performed to obtain a sample of cerebrospinal fluid for testing. If a cerebral folate deficiency is confirmed, supplementation with high doses of folinic acid for a prolonged period has been shown to be effective as a treatment option. Patients with this deficiency are normally assessed and treated by a neurologist.