Cerebral folate deficiency syndrome
Incidence
Unknown ethiology. Unknown incidence. Reported in 2002 in 5 children.
Clinical Characteristics
Recently described syndrome of Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid. It seems to be a novel neurometabolic condition responding to folinic Acid substitution. The chidren are normal until age 6 months, then develop symptoms. It is characterized by marked irritability, decelerating head growth, psychomotor retardation, ataxia, dyskinesias (choreoathetosis, ballism), pyramidal signs in the lower limbs and occasional seizures.
Precipitants
None.
Provocation Tests
None.
Diagnostic Procedures
Laboratory findings are: LOW: 5-methyl-THF (CSF), HVA 6 5HIAA (CSF).