medigraphic.com
ISSN 0185-3252 (Print)
Revista de la Asociación Médica del Centro Médico ABC

2014, Number 2

<< Back Next >>

An Med Asoc Med Hosp ABC 2014; 59 (2)

Congenital anosmia, case report

Waizel HS, Díaz LI, Romero FJÁ

Language: Spanish
References: 12
Page: 142-147
PDF size: 333.92 Kb.


ABSTRACT

Congenital anosmia is a disorder described in several abnormalities of sexual development and has been reported in familial cases. It comprises 3% of the causes of anosmia. Congenital anosmia presented as an isolated defect in one family member, is rare and tends to occur late on life. The aim of this paper is to report the case of a patient with olfactory loss since birth, and to analyze and discuss the diagnostic methods of this entity. We report the case of an 18-year-old male patient without relevant medical history who started his current condition with longstanding hyposmia; the olfactory function test results reported anosmia, and in the MRI we could find asymmetry of the left gyrus rectus and minor volume of the left frontal lobe and temporal pole.


REFERENCES

  1. Ghadami M, Morovvati S, Majidzadeh-A K, Damavandi E, Nishimura G, Kinoshita A et al. Isolated congenital anosmia locus maps to 18 p11.23-q12.2. J Med Genet. 2004; 41 (4): 299-303.

  2. Santos DV, Reiter ER, DiNardo LJ, Costanzo RM. Hazardous events associated with impaired olfactory function. Arch Otolaryngol Head Neck Surg. 2004; 130: 317-319.

  3. Vowles RH, Bleach NR, Rowe-Jones JM. Congenital anosmia. Int J Pediatr Otorhinolaryngol. 1997; 20; 41 (2): 207-214.

  4. Schellinger D, Henkin RT, Smirniotopoulos JG. CT of the brain in taste and smell dysfunction. AJNR Am J Neuroradiol. 1983 May-Jun; 4(3):752-4.

  5. Yousem DM, Geckle RJ, Bilker W, McKeown DA, Doty RLMR. Evaluation of patients with congenital hyposmia or anosmia. AJR Am J Roentgenol. 1996 Feb; 166(2):439-43.

  6. Leopold DA, Hornung DE, Schwob JE. Congenital lack of olfactory ability. Ann Otol Rhinol Laryngol. 1992; 101: 229-236.

  7. Fromantin M, Gineste J, Didier A et al. Impuberism and hypogonadism at induction into military service. Statistical study. Probl Actuels Endocrinol Nutr. 1973; 16: 179-199.

  8. Filippi G. Klinefelter’s syndrome in Sardinia. Clinical report of 265 hypogonadic males detected at the time of military check-up. Clin Genet. 1986; 30 (4): 276-284.

  9. Seminara SB, Hayes FJ, Crowley WF Jr. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998; 19 (5): 521-539.

  10. Trarbach EB, Silveira LG, Latronico AC. Genetic insights into human isolated gonadotropin deficiency. Pituitary. 2007; 10 (4): 381-391.

  11. Croy I, Negoias S, Novakova L, Landis BN, Hummel T. Learning about the functions of the olfactory system from people without a sense of smell. PLoS One. 2012; 7 (3): e33365

  12. Yousem DM, Geckle RJ, Bilker W, McKeown DA, Doty RL. MR evaluation of patients with congenital hyposmia or anosmia, AJR Am J Roentgenol. 1996; 166 (2): 439-443.




2020     |     www.medigraphic.com