Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report.
Although cerebral sinovenous thrombosis (CSVT) is a rare condition in the neonatal period, high rates of morbidity and mortality necessitate the establishment of an early diagnosis. Methylenetetrahydrofolate reductase (MTHFR) plays a central role in the folate cycle and mutations of MTHFR are associated with vascular disease. While the C677T common missense mutation is the most well-defined MTHFR polymorphism, another common missense mutation, A1298C also exists. There has been no reported case of CSVT associated with MTHFR A1298C mutation in the neonatal period. Herein, we report a neonate with CSVT who was found to have MTHFR A1298C homozygosity.
Division of Neonatology, Department of Pediatrics, Fatih University Medical School, Alparslan Turkes Caddesi No:57, Emek, Ankara, Turkey. nevzatcizmeci@hotmail.com
Mehmet Nevzat
MN
Cizmeci
Mehmet Kenan
MK
Kanburoglu
Ahmet Zulfikar
AZ
Akelma
Ahsen
A
Donmez
Fatma Mujgan
FM
Sonmez
Aziz
A
Polat
Dilek
D
Kosehan
Mustafa Mansur
MM
Tatli
D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020767:Intracranial Thrombosis / Q000175:diagnosis* / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)