Abstract
Background
Folate metabolism disorders can affect various organ systems, including the nervous
system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate
deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid
(CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal.
Case report
We present here a female patient with developmental delay, microcephaly, hypotonia,
nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion
in the bilateral parietal and occipital lobes, and calcifications of the bilateral
putamen, globus pallidus, and caudate nucleus, and the bilateral parietal and occipital
lobes. Laboratory tests revealed macrocytic anemia, increased homocysteine, low-normal
CSF 5,10-methenyltetrahydrofolate, and low CSF folate, but normal serum vitamin B12
and folate levels. A whole exome sequencing analysis verified the diagnosis of 5,10-methenyltetrahydrofolate
synthetase deficiency.
Conclusions
We have added novel knowledge which is nystagmus and hypotonia in the clinical findings,
the involvement and restriction of bilateral putamen, globus pallidus, parietal and
occipital lobes, and calcification of the bilateral putamen, globus pallidus, caudate
nucleus, and parietal and occipital lobes in neuroimaging images and also low CSF
folate in the metabolic investigation with the patient in 5,10-methenyltetrahydrofolate
synthetase deficiency.
Keywords
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References
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Article info
Publication history
Published online: June 06, 2022
Accepted:
May 25,
2022
Received in revised form:
May 12,
2022
Received:
March 8,
2022
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
