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BMJ Case Reports 2017; doi:10.1136/bcr-2017-221899
  • Rare disease
  • CASE REPORT

Olfactory bulb agenesis with normal sexual hormones

  1. Petpring Prajuabpansri5
  1. 1Ear, Nose and Throat Center, Bumrungrad International Hospital, Bangkok, Thailand
  2. 2Department of Preventive and Social Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
  3. 3Department of International Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
  4. 4Neuroscience Center, Bumrungrad International Hospital, Bangkok, Thailand
  5. 5Department of Medicine, Bumrungrad International Hospital, Bangkok, Thailand
  1. Correspondence to Dr Krit Pongpirul, doctorkrit{at}gmail.com
  • Accepted 28 September 2017
  • Published 11 October 2017

Summary

An 18-year-old Caucasian man presented with a lack of sense of surrounding smell. The problem was first noticed when a family member discussed the smell of the food, which he had no idea what it was. The patient had normal development and sexual function, no history of trauma, surgery, chemical exposure or infection. Physical examination revealed no significant abnormalities. Smell threshold test using phenyl-ethyl-alcohol revealed bilateral anosmia. MRI showed bilateral aplastic olfactory bulbs and tracts associated with absent cortical growth of the olfactory sulci and asymmetrical gyrus rectus. Circulating hormones including cortisol, growth hormone, insulin-like growth factor 1, adrenocorticotropic hormone, thyroid hormones, follicle-stimulating hormone, luteinizing hormone, prolactin and testosterone were within normal ranges. Doppler ultrasound showed normal testis with bilateral supratesticular varicoceles. Given the loss of warning smell sensation, counselling for daily living precautions especially those related to gas, fire and rotten food was given.

Footnotes

  • Contributors PT initiated and helped to draft the paper, obtained informed consent from the patient and gave final approval of the version published. KP drafted the manuscript. TC and PP provided the medical assessment to the patient and helped to draft the manuscript. All authors read and approved the final manuscript.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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