PATIENT WITH MTHFR MUTATION PRESENTING WITH TINGLING AND CRACKING IN THE TONGUE: CASE PRESENTATION

Abstract

A 17-year-old male patient presented with complaints of tingling and cracks on the tongue. Except for geographical tongue, the physical examination of the patient was entirely normal. His growth and development were also normal. Laboratory investigations including complete blood count and routine biochemistry tests were within normal limits. B12 level was normal, while folate level was slightly low, and homocysteine level was found to be high. Advanced investigations aiming to determine the etiology revealed a homozygous mutation in the MTHFR gene, and treatment was initiated. The patient received folate, B12, and betaine therapy. It was observed that homocysteine levels gradually decreased with the treatment. Oral lesions such as tongue sores and geographical tongue due to B vitamin deficiencies are common considerations in pediatric practice. However, in cases of persistent high homocysteine levels despite treatment, homocystinuria and MTHFR mutation should also be taken into account in the etiology.

Keywords

• high homocysteine level
• MTHFR mutation
• geographic tongue

DİLDE UYUŞMA VE ÇATLAK ŞİKÂYETLERİ İLE BAŞVURAN MTHFR MUTASYONU SAPTANAN HASTA: VAKA SUNUMU

Abstract

17 yaş erkek hasta dilde uyuşma ve dilinde çatlaklar şikayeti ile başvurdu. Hastanın fizik muayenesi harita dili olması dışında tamamanen normaldi. büyümesi ve gelişmesi normaldi. Yapılan labaratuvar incelelemelerinde tam kan sayımı ve rütin biyokimya testleri normaldi. B12 düzeyi normal , folik asit hafif düşük saptandı ve homosistein düzeyi yüksek olarak saptandı. Hastada etiyolojiye yönelik yapılan ileri incelemerde MTHFR geninde homozigot mutasyon tespit edildi ve tedavi başlandı. Hastaya folik asit , B12 ve betain tedavisi verildi. Tedavi ile homosistein düzeyinin kademeli düştüğü gözlemlendi. Dilde yara, harita dili gibi oral lezyonlarda B vitamini eksiklikleri pediatri pratiğinde sık akla gelen nedenlerdendir. Ancak tedavi ile düzelmeyen homosistein yüksekliğinde homosistinüri ve MTHFR mutasyonu da etiyolojide akılda bulundurulmalıdır.

Keywords

• HOMOSİSTEİN YÜKSEKLİĞİ
• MTHFR mutasyonu
• harita dili

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