Progressive encephalopathy in a child with cerebral folate deficiency syndrome

Area of Science:

• Neurology
• Pediatrics
• Metabolic Disorders

Background:

• Cerebral folate deficiency syndrome (CFDS) is a rare neurological disorder.
• It is characterized by developmental delay, regression, and seizures.
• CFDS is associated with autoantibodies targeting folate receptors.

Observation:

• A case study of a female child with developmental delay and seizures is presented.
• The child experienced unexplained coma and subsequent developmental regression.
• Initial extensive testing did not reveal the cause.

Findings:

• Cerebrospinal fluid analysis revealed low methyltetrahydrofolate levels.
• Elevated autoantibodies against folate receptors were subsequently identified.
• These findings confirmed the diagnosis of CFDS.

Implications:

• This case highlights the importance of considering CFDS in children with unexplained neurological symptoms.
• Early diagnosis and intervention are critical for managing CFDS.
• Despite treatment with folinic acid, the patient developed intractable epilepsy and severe developmental delay, underscoring the challenges in managing advanced cases.