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

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

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1. Assistant professor of Pediatric Neurology, Faculty of medicine, Pediatric Growth and Development Research Centre, Iran University of Medical Sciences, Tehran, Iran
2. Department of Pediatric endocrinology, Faculty of medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran
3. Professor of Pediatric Neurology, Faculty of medicine, Pediatric Growth and Development Research Centre, Children Medical Centre, Tehran University of Medical Sciences, Tehran, Iran
4. Pediatric Critical Care Fellowship, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
5. Paediatrician, Faculty of medicine, Pediatric Growth and Development Research Centre, Iran University of Medical Sciences, Tehran, Iran

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.

Style	Citing Format
MLA	Vafaeeshahi M, et al.. "Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases." Clinical Neurology and Neurosurgery, vol. 215, no. , 2022, pp. -.
APA	Vafaeeshahi M, Amirkashani D, Ashrafi MR, Tahernia L, Riahi A (2022). Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases. Clinical Neurology and Neurosurgery, 215(), -.
Chicago	Vafaeeshahi M, Amirkashani D, Ashrafi MR, Tahernia L, Riahi A. "Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases." Clinical Neurology and Neurosurgery 215, no. (2022): -.
Harvard	Vafaeeshahi M et al. (2022) 'Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases', Clinical Neurology and Neurosurgery, 215(), pp. -.
Vancouver	Vafaeeshahi M, Amirkashani D, Ashrafi MR, Tahernia L, Riahi A. Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases. Clinical Neurology and Neurosurgery. 2022;215():-.
BibTex	@article{ author = {Vafaeeshahi M and Amirkashani D and Ashrafi MR and Tahernia L and Riahi A}, title = {Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases}, journal = {Clinical Neurology and Neurosurgery}, volume = {215}, number = {}, pages = {-}, year = {2022} }
RIS	TY - JOUR AU - Vafaeeshahi M AU - Amirkashani D AU - Ashrafi MR AU - Tahernia L AU - Riahi A TI - Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases JO - Clinical Neurology and Neurosurgery VL - 215 IS - SP - EP - PY - 2022 ER -

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