METHEMOGLOBINEMIA WITH NEUROLOGICAL MANIFESTATIONS: A CASE OF RECESSIVE CONGENITAL METHEMOGLOBINEMIA TYPE II
Öz
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.
Anahtar Kelimeler
Methemoglobinemia congenital cyanosis neurological development
Kaynakça
- 1. Ergün D, Narin E, Ergün R, Kanat F, Göksel B. A rare cause of hypoxemia: Hereditary methemoglobinemia. J Contemp Med 2021;11(6):924-6. [CrossRef] google scholar
- 2. Aslan D, Türköz-Sucak G, Percy MJ. Recessive congenital methemoglobinemia in immediate generations. Turk J Pediatr 2016;58(1):113-5. [CrossRef] google scholar
- 3. Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, et al. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. Brain 2008;131(Pt 3):760-1. [CrossRef] google scholar
- 4. Nicita F, Sabatini L, Alesi V, Lucignani G, Sallicandro E, Sferra A, et al. Neurological and neuroimaging features of CYB5R3-related recessive hereditary methemoglobinemia type II. Brain Sci 2022;29(12):182. [CrossRef] google scholar
- 5. Manoochehri J, Goodarzi HR, Jafarinia M, Jafari Khamirani H, Tabei SMB. Severe phenotype of an Iranian patient with methemoglobinemia type II due to a novel mutation in the CYB5R3 gene. Iran J Ped Hematol Oncol 2021;11(4):280-7. [CrossRef] google scholar
- 6. Aldeeb M, Yassin M. Late diagnosis of congenital methemoglobinemia in a 33-year-old patient: Case report and review of literature. Hematol Transfus Cell Ther 2021;43(S53):S51. [CrossRef] google scholar
- 7. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency. Br J Haematol 2008;141:298-308. [CrossRef] google scholar
- 8. Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J, Schrier Vergano SA. Congenital methemoglobinemia type II in a 5-year-old boy. Clin Case Rep 2017;6(1):170-8. [CrossRef] google scholar
- 9. Nicolas-Jilwan M. Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. Neuroradiol J 2019;32(2):143-7. [CrossRef] google scholar
- 10. Ozcelik AA, Perk P, Dai A. Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. Acta Neurol Belg 2016;116(2):217-9. [CrossRef] google scholar
NÖROLOJİK BULGULARLA BİRLİKTE OLAN METHEMOGLOBİNEMİ: TİP II KONJENİTAL RESESİF METHEMOGLOBİNEMİ OLGUSU
Öz
Konjenital methemoglobinemi, methemoglobin düzeyinde artışla seyreden, nadir siyanoz sebeplerindendir. Hastalıktan sorumlu olan nikotinamid adenin dinükleotit sitokrom b5 redüktaz enzimi eksikliğine sebep olan sitokrom B5 redüktaz 3 (CYB5R3) gen mutasyonlarıdır. Konjenital hastalığın iki tipi vardır; tip I’de sadece eritrositlerde enzim eksikliği görülürken, tip II’de tüm dokular etkilenir. Buna bağlı olarak tip I’de siyanoz görülen tek klinik bulgu iken tip II’de hafif siyanozun yanında bilişsel yetersizlik, mikrosefali, jeneralize distoni, hareket bozuklukları gibi ciddi nörolojik bulgular eşlik eder. Bu çalışmada, solunum sıkıntısı yakınması ile başvuran, methemoglobin düzeyi yüksek saptanan, nörolojik bulguların eşlik etmesi sebebi ile tip II konjenital methemoglobinemi tanısı alan olgu sunuldu. Hastanın tedavisi düzenlendi, methemoglobin düzeyi düşürüldü, siyanoz geriledi, ancak nörolojik bulgularda değişiklik görülmedi. Tedavisi olmayan bu nadir hastalık, açıklanamayan siyanozu olup methemoglobin düzeyi yüksek saptanan hastaların ayırıcı tanıları arasında yer almalı ve hastalığın şiddeti ve %25 nüks oranı nedeniyle aileye genetik danışmanlık verilmelidir.
Anahtar Kelimeler
Destekleyen Kurum
yok
Kaynakça
- 1. Ergün D, Narin E, Ergün R, Kanat F, Göksel B. A rare cause of hypoxemia: Hereditary methemoglobinemia. J Contemp Med 2021;11(6):924-6. [CrossRef] google scholar
- 2. Aslan D, Türköz-Sucak G, Percy MJ. Recessive congenital methemoglobinemia in immediate generations. Turk J Pediatr 2016;58(1):113-5. [CrossRef] google scholar
- 3. Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, et al. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. Brain 2008;131(Pt 3):760-1. [CrossRef] google scholar
- 4. Nicita F, Sabatini L, Alesi V, Lucignani G, Sallicandro E, Sferra A, et al. Neurological and neuroimaging features of CYB5R3-related recessive hereditary methemoglobinemia type II. Brain Sci 2022;29(12):182. [CrossRef] google scholar
- 5. Manoochehri J, Goodarzi HR, Jafarinia M, Jafari Khamirani H, Tabei SMB. Severe phenotype of an Iranian patient with methemoglobinemia type II due to a novel mutation in the CYB5R3 gene. Iran J Ped Hematol Oncol 2021;11(4):280-7. [CrossRef] google scholar
- 6. Aldeeb M, Yassin M. Late diagnosis of congenital methemoglobinemia in a 33-year-old patient: Case report and review of literature. Hematol Transfus Cell Ther 2021;43(S53):S51. [CrossRef] google scholar
- 7. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency. Br J Haematol 2008;141:298-308. [CrossRef] google scholar
- 8. Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J, Schrier Vergano SA. Congenital methemoglobinemia type II in a 5-year-old boy. Clin Case Rep 2017;6(1):170-8. [CrossRef] google scholar
- 9. Nicolas-Jilwan M. Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. Neuroradiol J 2019;32(2):143-7. [CrossRef] google scholar
- 10. Ozcelik AA, Perk P, Dai A. Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. Acta Neurol Belg 2016;116(2):217-9. [CrossRef] google scholar
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Hizmetleri ve Sistemleri (Diğer) |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 29 Ocak 2024 |
| Gönderilme Tarihi | 18 Nisan 2023 |
| Yayımlandığı Sayı | Yıl 2024 Cilt: 87 Sayı: 1 |
Kaynak Göster
Contact information and address
Addressi: İ.Ü. İstanbul Tıp Fakültesi Dekanlığı, Turgut Özal Cad. 34093 Çapa, Fatih, İstanbul, TÜRKİYE
Email: itfdergisi@istanbul.edu.tr
Phone: +90 212 414 21 61