Prise en charge thérapeutique d'une malabsorption congénitale en folates

Congenital folate malabsorption is a rare disorder corresponding to a defect folate transfer across the intestine and the olood-brain barrier. The disease is characterised by a megaloblastic anaemia of early appearance associated with nutritional problems and mental retardation. Anaemia can be easily controlled by therapeutic dose of folate but the neurological symptoms are generally poorly improved due to the difficulty to maintain adequate levels of methyltetrahydrofolate in cerebrospinal fluid. We report the case of an infant whose diagnosis was established at the age of 3 months and treated by important amounts of folinic acid, vitamin B12 and betaine. The treatment, evaluated using biological and clinical parameters, was proved to be effective and well tolerated.