Neurologic disorders responsive to folic acid therapy

Area of Science:

• Neurology
• Psychiatry
• Gastroenterology

Background:

• Folate deficiency is a treatable condition that can manifest with diverse neurological and psychiatric symptoms.
• Early diagnosis and intervention are crucial for managing the complications of folate deficiency.

Observation:

• Six women (aged 31-70) presented with folate deficiency and neuropsychiatric disorders.
• Symptoms included depression, fatigue, restless legs syndrome, sensory disturbances, and constipation.
• Some patients exhibited abnormal D-xylos absorption, jejunal mucosa atrophy, or megaloblastic bone marrow.

Findings:

• Acquired folate deficiency in three patients led to depression, fatigue, and gastrointestinal issues, all resolving with folic acid therapy.
• Familial folate deficiency in three others caused restless legs syndrome, pain, and neurological signs, with significant improvement after folic acid administration.
• One patient with subacute combined degeneration and kidney disease showed remarkable recovery with high-dose folic acid.

Implications:

• Unrecognized folate deficiency can underlie a distinct syndrome of neurological, psychiatric, and gastroenterological disorders.
• Restless legs syndrome may be a primary clinical manifestation of acquired or inherited folate deficiency in adults.
• Screening for folate deficiency is recommended in patients presenting with these symptoms, as it is a treatable cause.