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Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases Publisher Pubmed



Vafaeeshahi M1 ; Amirkashani D2 ; Ashrafi MR3 ; Tahernia L4 ; Riahi A5
Authors

Source: Clinical Neurology and Neurosurgery Published:2022


Abstract

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case of MTHFS mutation reported from Iran and the fourth throughout the world with novel mutation and brain imaging. © 2022 Elsevier B.V.
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