Congenital anosmia
Congenital anosmia is a rare condition characterized by the complete inability to perceive smell from birth. It affects approximately 1 in 10,000 individuals and is often diagnosed later in life due to its subtle presentation and lack of associated symptoms.[1] This condition can occur in isolation or as part of a syndrome, such as Kallmann syndrome or CHARGE syndrome.[2]
The cause of congenital anosmia is not fully understood, but it is often linked to the underdevelopment or absence of the olfactory bulbs and tracts.[3] Diagnosis typically involves clinical evaluation, smell tests, and imaging studies to identify any structural abnormalities in the olfactory system.[4]
There is no known cure for congenital anosmia. Management focuses on safety precautions to mitigate risks associated with the inability to smell, such as not detecting smoke or gas leaks.[4] Despite the challenges, individuals with congenital anosmia can lead normal lives with appropriate support and counseling.[1]
References
- ^ a b Saw, Chia; Friesen, Noel David; Bartley, Anthony (2022-07-07). "An Extremely Rare Cause of Isolated Congenital Anosmia". Case Reports in Pediatrics. 2022: 1–4. doi:10.1155/2022/5253121. PMC 9283015. PMID 35837270.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Karstensen, H.; Tommerup, N. (2021-01-26). "Human olfactory dysfunction: causes and consequences". Cell and Tissue Research. 383 (1): 113–123. doi:10.1007/s00441-020-03381-9.
- ^ Arshamian, A.; Iravani, B.; Lundström, J.N. (2022-11-10). "Is congenital anosmia protective for Parkinson's disease triggered by pathogenic entrance through the nose?". npj Parkinson's Disease. 8: 152. doi:10.1038/s41531-022-00425-5.
- ^ a b Boesveldt, Sanne; Postma, Elbrich M.; Boak, Duncan; Welge-Luessen, Antje; Schöpf, Veronika; Mainland, Joel D.; Martens, Jeffrey; Ngai, John (2017-05-22). "Anosmia—A Clinical Review". Chemical Senses. 42 (7): 513–523. doi:10.1093/chemse/bjx025. PMC 5863566. PMID 28531306.