Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis?

Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis?

Type 1 congenital methaemoglobinaemia is a rare cause of cyanosis which may manifest in affected individuals during concomitant illness. Treatment indications and aims differ from that of acquired methaemoglobinaemia. Type 1 methaemoglobinaemia is a distinct condition from the type 2 form which has a high mortality rate in infancy. A 25 year old male with known type 1 congential methaemoglobinaemia presented with cyanosis in the context of Influenza A with raised methaemoglobin levels on arterial blood gas analysis. The patient was assessed based on his level of ‘functional haemoglobin’ with no acute indication for IV methylene blue or ascorbic acid. Consideration could be given to prescription of these on a cosmetic basis for some patient populations.

References

  1. David SR, Sawal NS, Salam Bin Hamzah MN, Rajabalaya R. The blood blues: a review on methaemoglobinaemia. Journal of Pharmacology and Pharmacotherapeutics [Internet]. 2018; 9(1): 1-5. Available from: http://www.jpharmacol.com/article.asp?issn=0976-500X;year=2018; volume=9;issue=1;spage=1;epage=5;aulast=David
  2. Ludlow JT, Wilkerson R, Nappe TM. Methaemoglobinaemia. Stat Pearls [Internet]. Treasure Island FL: Stat Pearls; 2020 [cited2021 Jan 2]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537317/
  3. Paul A, Chacko ST. Congenital methaemoglobinaemia diagnosed in an adolescent boy. BMJ Case Reports CP2019 [Internet]. 2019 [cited2021 Jan 5]; 12: e228470.
  4. Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J, Vergano SAS. Congenital methaemoglobinaemia type II in a 5-year-old boy. Clinc Case Rep. 2018 Jan; 6(1): 170–171.
  5. Nelson LS, Howland MA, Lewin NA, Smith SW, Goldfrank LR, Hoffman RS. Goldfrank’s Toxologic Emergencies. 11th ed. New York: McGraw Hill Education; 2019.
  6. Bradberry SM. Occupational Methaemoglobinaemia: Mechanisms of Production, Features, Diagnosis and Management Including the Use of Methylene Blue. Toxicological Reviews. 2003 Jan 1; 22(1): 13-27.
  7. Chan ED, Chan MM, Chan MM. Pulse Oximetry: Understanding its basic principles facilitates appreciation of its limitations. Respir. Med. 2013 June; 107(6): 789 – 799.
  8. Haymond S, Carriappa R, Eby CS, Scott MG. Laboratory assessment of oxygenation in methaemoglobinaemia. Clin. Chem. 2005 Feb 1;51(2): 434-435.
  9. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency. Br. J. Haematol. [Internet].2008 April [cited 2021 Jan 3]; 141(3); 298. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2141.2008.07017.x
  10. Gheshlagi F, Lavasanijou MR, Moghaddam MA, Khazaei M, Behjati M, Farajzadegan Z et al. N-acetylcysteine, Ascorbic Acid, and Methylene Blue for the Treatment of Aluminium Phosphide Poisoning: Still Beneficial? Toxicol Int. 2015 April; 22(1); 42.
  11. Jiang K, Tang K, Liu H, Xu H, Ye Z, Chen Z. Ascorbic Acid Supplements and Kidney Stones Incidence Among Men and Women: A systematic review and meta-analysis. J Urol [Internet]. 2019 May 5 [cited 2021 Jan 5]; 5; 16(2). Available from: https://www.ncbi.nlm.nih.gov/pubmed/30178451
  12. Kang C, Kim DH, Kim T, Lee SH, Jeong JH, Lee SB et al. Therapeutic effect of ascorbic acid on dapsone induced methaemoglobinaemia in rats. Clin Exp Emerg Med. 2018 Sept 30 [cited 2021 Jan 3]; 5(3): Available from: https://www.ceemjournal.org/journal/view.php?doi=10.15441/ceem.17.253
  13. Hassan KS, Al-Riyami AZ, Al-Huneini M, Al-Farsi K, Al-Khabori M. Methaemoglobinaemia in an elderly patient with glucose-6-phosphate dehydrogenase deficiency. Oman Med J. 2014 Jan 9 [cited 2021 Jan 3]; 29(2): 125. Available from: http://www.omjournal.org/articleDetails.aspx?coType=1&aId=504
  14. Bhroin SU, McNamara R, Kidney E. Methaemoglobinaemia: a blue light emergency. Ir Med J [Internet]. 2018 March 14 [cited 2021 Jan 4]; 111(3): 717. Available from: http://imj.ie/methaemoglobinaemiaa-blue-light-emergency/
  15. Dasgupta A, Sepulveda J. Accurate results in the clinical laboratory. 1st ed. New York: Elsevier; 2013.

Request Permissions

To request copyright permission to republish or share portions of our works, please visit Copyright Clearance Center’s (CCC) Marketplace website by clicking the button below:

Get Permission

Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis?

28th March 2022
PMID: 35342911
Authors Affiliations
Judith R Fleming MBChB MRCP (UK), Department of Medicine, Glasgow Royal Infirmary, 84 Castle Street, Glasgow G4 0SF
Matthew I Maycock MBChB MRCP (UK) BSc (Hons), Department of Respiratory Medicine, University Hospital Wishaw, 50 Netherton Street, Wishaw ML2 0DP

Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis?

Cite this article as:

Fleming JR, Maycock MI. Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis? Acute Med. 2022;21(1):50-52. doi: 10.52964/AMJA.0893. PMID: 35342911.

Case Report: Congenital Methaemoglobinaemia Type 1: Benign Cyanosis?

Share this article

Click the icon of the social media platform on which you would like to share this article.


Shopping Basket
Scroll to Top