Heterozygous MTHFR A1298C Mutation causing Cerebral Venous Sinus Thrombosis.
A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
Post Graduate student in General Medicine.
Jimil H
JH
Shah
Assistant Professor in General Medicine.
Kaustubh D
KD
Salagre
HOU and Assosiate Professor in General Medicine, Seth G.S.Medical College and KEM Hospital, Mumbai, Maharashtra.
Ravindra Nath
RN
Sahay
Post Graduate student in General Medicine.
Abhinav
A
Anand
D006579:Heterozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D012851:Sinus Thrombosis, Intracranial / Q000235:genetics*; D055815:Young Adult
C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)