Abstract
The cerebral folate deficiency (CFD) syndromes are a rare group of neurodevelopmental
disorders defined by low levels of cerebrospinal fluid 5-methyltetrahydrofolate in
the context of normal serum folate. Infantile-onset CFD, a phenotype of the CFD syndromes,
typically presents between 4 and 6 months of age and is amenable to treatment with
folinic acid. To date, only 20 cases of this phenotype have been reported. Here, we
present a patient diagnosed at 4 years with infantile-onset CFD who demonstrated dramatic
clinical and radiological improvement after supplementation with high-dose oral folinic
acid. To our knowledge, this is the first reported case of an African patient with
this condition and the first to capture neuroimaging both before and after treatment.
With this case report, we aim to provide radiologic evidence and further demographic
diversity to support existing guidelines for simple vitamin supplementation in this
rare but treatable condition.
Keywords
cerebral folate deficiency - 5-MTHF - folinic acid - neurodevelopmental delay - cerebral
atrophy
