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Dikici S, Saritas A, Besir FH, et al. May headache be the first sign of mutation in the MTHFR gene?. World J Emerg Med. 2013;4(1):69-72doi: 10.5847/wjem.j.issn.1920-8642.2013.01.013.
Dikici, S., Saritas, A., Besir, F. H., Celbek, G., & Arslan, G. (2013). May headache be the first sign of mutation in the MTHFR gene?. World journal of emergency medicine, 4(1), 69-72. https://doi.org/10.5847/wjem.j.issn.1920-8642.2013.01.013
Dikici, Suber, et al. "May headache be the first sign of mutation in the MTHFR gene?." World journal of emergency medicine vol. 4,1 (2013): 69-72. doi: https://doi.org/10.5847/wjem.j.issn.1920-8642.2013.01.013
Dikici S, Saritas A, Besir FH, Celbek G, Arslan G. May headache be the first sign of mutation in the MTHFR gene?. World J Emerg Med. 2013;4(1):69-72. doi: 10.5847/wjem.j.issn.1920-8642.2013.01.013. PMID: 25215096; PMCID: PMC4129894.
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World J Emerg Med. 2013;4(1):69-72. doi: 10.5847/wjem.j.issn.1920-8642.2013.01.013.

May headache be the first sign of mutation in the MTHFR gene?.

World journal of emergency medicine

Suber Dikici, Ayhan Saritas, Fahri Halit Besir, Gokhan Celbek, Guven Arslan

Affiliations

  1. Department of Neurology, School of Medicine, Duzce University, Duzce, Turkey.
  2. Department of Emergency Medicine, School of Medicine, Duzce University, Duzce, Turkey.
  3. Department of Radiology, School of Medicine, Duzce University, Duzce, Turkey.
  4. Department of Internal Medicine, School of Medicine, Duzce University, Duzce, Turkey.

PMID: 25215096 PMCID: PMC4129894 DOI: 10.5847/wjem.j.issn.1920-8642.2013.01.013

Abstract

BACKGROUND: Cerebral venous thrombosis (CVT) is a rare disease and it has different etiologies. Inherited or acquired prothrombotic state plays a key role in the development of CVT.

METHODS: A 28-year-old man who presented to our emergency department with persistent headache and accompanied by complaints of nausea and vomiting over a week. Neurologic examination revealed bilateral papilledema. Brain computed tomography showed a hyperdense area on the posterior part of the occipital lobe. Brain magnetic resonance imaging and magnetic resonance venography revealed thrombosis of CVT. Homozygous mutations were found for methylenetetrahydrofolate reductase (MTHFR). MTHFR CG677T gene mutation and blood tests showed elevated homocysteine levels on the etiological screening. There was no other etiology for CVT.

RESULTS: Headache and other complaints were improved after treatment of heparin, warfarin, and vitamin B12. No recurrence of symptoms was observed upon outpatient follow-up.

CONCLUSION: Since CVT is an important cause of headache, we recommend etiology screening for patients who present with CVT for MTHFR gene mutations and family counseling should be provided.

Keywords: Cerebral venous thrombosis; Headache; Methylenetetrahydrofolate reductase gene mutation

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