METHEMOGLOBINEMIA WITH NEUROLOGICAL MANIFESTATIONS: A CASE OF RECESSIVE CONGENITAL METHEMOGLOBINEMIA TYPE II NÖROLOJİK BULGULARLA BİRLİKTE OLAN METHEMOGLOBİNEMİ: TİP II KONJENİTAL RESESİF METHEMOGLOBİNEMİ OLGUSU
Istanbul Tip Fakultesi Dergisi, cilt.87, sa.1, ss.87-90, 2024 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 87 Sayı: 1
- Basım Tarihi: 2024
- Doi Numarası: 10.26650/iuitfd.1284643
- Dergi Adı: Istanbul Tip Fakultesi Dergisi
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.87-90
- Anahtar Kelimeler: congenital, cyanosis, Methemoglobinemia, neurological development
- Süleyman Demirel Üniversitesi Adresli: Evet
Özet
Congenital methemoglobinemia is a rare cause of cyanosis that is characterized by increased methemoglobin levels and caused by mutations in the cytochrome B5 reductase 3 (CYB5R3) gene resulting in deficiencies of the nicotinamide adenine dinucleotide-cytochrome b5 reductase enzyme. The congenital disease has two types: type I, in which the enzyme deficiency occurs only in the erythrocytes, and type II, in which all tissues are affected. Accordingly, cyanosis is the sole clinical manifestation in type I, whereas cyanosis is accompanied by such severe neurological findings as intellectual disability, microcephaly, generalized dystonia, and movement disorders. In this study, a case who presented with respiratory distress was found to have high methemoglobin levels and was diagnosed with type II congenital methemoglobinemia due to the presence of neurological findings was presented. The patient's treatment was adjusted, the methemoglobin level was reduced, and cyanosis regressed, but no change was observed in neurological findings. This untreatable, rare condition must be included in the differential diagnosis of patients with unexplained cyanosis and high methemoglobin levels, and genetic counseling must be provided to the family, because of its severity and 25% recurrence rate.