The Cerebrospinal Fluid Level of 5-Methylterahydrofolate in a Japanese Boy with Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Abstract

To the Editor Mercimek-Mahmutoglu and Stockler-Ipsiroglu (2007) reported the decreased level of 5-methylterahydrofolate (5-MTHF) in the cerebrospinal fl uid (CSF) of a patient with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). They suggested the relationship between H-ABC and cerebral folate defi ciency (CFD), and showed the effi cacy of the treatment with folic acid on their patient. We have also considered the possibility if our patient with H-ABC (Wakusawa et al. 2006; van der Knaap et al. 2007) had CFD. Since 5-MTHF could not be measured in any laboratory in Japan, we measured 5-MTHF in the CSF of our patient in Zurich, Switzerland. It was revealed that the level of 5-MTHF of our patient was not decreased; the level of 5-MTHF of our patient was 86.2 nmol/l (age matched normal value: 41-117 nmol/l). We have therefore concluded that there is a low possibility of having CFD in our patient. H-ABC is a syndrome defi ned by the fi ndings of magnetic resonance imaging: hypomyelination of cerebral cortex, atrophy of the basal ganglia, and atrophy of cerebellum (van der Knaap et al. 2002). However, the pathophysiology of H-ABC is still unknown. Our fi nding suggests that H-ABC is a symptomatic representation of several diseases including CFD. More patients are needed for understanding the pathophysiology of H-ABC.