RESUMEN
A 23‑year‑old girl presented to the clinic with metamorphopsia and photopsia in her left eye. After detailed ophthalmic examination, central retinal vein occlusion with optic disc edema was detected in that eye. Three days after diagnosis, the patient returned to our clinic with visual acuity decrease. Central retinal artery occlusion sparing cilioretinal artery was detected. All the laboratory tests were normal except for heterozygous methylenetetrahydrofolate reductase mutation (A1298C genotypes) and an indefinite Lyme disease seropositivity. Symptoms and visual disturbance recovered without any further treatment other than acetylsalicylic acid for prophylaxis.
RESUMEN
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.
RESUMEN
Methylenetetrahydrofolate reductase (MTHFR) gene mutations have been implicated as risk factors for neural tube defects (NTDs). The best-characterized MTHFR genetic mutation 677C→T is associated with a 2–4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.