A Case of Cerebral Folate Deficiency due to FOLR1 Mutation in a 10-Year-Old Girl: Clinical Presentation and Treatment...

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• Cerebral folate deficiency (CFD) is a neurological disorder characterized by low folate levels in the cerebrospinal fluid (CSF).
• It often presents with developmental delay, regression, and intractable seizures, particularly in children.
• Impaired folate transport across the blood-brain barrier is a key pathogenic mechanism.

Purpose of the Study:

• To report a case of pediatric CFD due to a FOLR1 gene mutation.
• To highlight the diagnostic utility of genetic testing in CFD.
• To demonstrate the therapeutic efficacy of folinic acid in this condition.

Main Methods:

• Case report of a 10-year-old girl with developmental regression and refractory seizures.
• Whole exome sequencing to identify genetic cause.
• Initiation of folinic acid supplementation based on diagnosis.

Main Results:

• A pathogenic mutation in the FOLR1 gene was identified, confirming CFD.
• The patient experienced significant clinical improvement following folinic acid treatment.
• Seizure control and developmental progress were observed post-treatment.

Conclusions:

• Genetic testing is crucial for diagnosing CFD and identifying the underlying genetic defect.
• Folinic acid supplementation is an effective treatment for CFD caused by FOLR1 mutations.
• Early diagnosis and treatment can mitigate severe neurological deficits in CFD.