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An Extremely Rare Cause of Isolated Congenital Anosmia.

ABSTRACT: A 14-year-old adolescent was referred to a regional paediatric outpatient clinic with anosmia by her family doctor in Western Australia. The patient has no recollection of her previous ability to smell, suggesting the possibility of congenital anosmia. She was assessed in the paediatric outpatient clinic. A "noncontrast high-resolution MRI-brain scan with Anosmia-Protocol" was requested as the first-line investigation of choice by the treating paediatrician. The MRI was reported as "absence of olfactory tracts with preserved olfactory bulb volume." We report an extremely rare case of "isolated agenesis of the olfactory tract with intact olfactory bulbs" and discuss the clinical approach in bedside assessment of isolated congenital anosmia (ICA). Congenital anosmia can be a presentation of olfactory bulb aplasia; however, little is known about isolated olfactory tract agenesis and its treatment options. The patient was counselled on the diagnosis and safety advice provided.

SUBMITTER: Saw C

PROVIDER: S-EPMC9283015 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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An Extremely Rare Cause of Isolated Congenital Anosmia.

Saw Chia C Friesen Noel David ND Bartley Anthony A

Case reports in otolaryngology 20220707

A 14-year-old adolescent was referred to a regional paediatric outpatient clinic with anosmia by her family doctor in Western Australia. The patient has no recollection of her previous ability to smell, suggesting the possibility of congenital anosmia. She was assessed in the paediatric outpatient clinic. A "noncontrast high-resolution MRI-brain scan with Anosmia-Protocol" was requested as the first-line investigation of choice by the treating paediatrician. The MRI was reported <i>as</i> "absen ...[more]

PMID: 35847159

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Project description:Background: Isolated hypogonadotropic hypogonadism (IHH) is a rare, clinically heterogeneous condition, caused by the deficient secretion or action of gonadotropin releasing hormone (GnRH). It can manifest with absent or incomplete sexual maturation, or as infertility at adult-age; in a half of cases, IHH is associated with hypo/anosmia (Kallmann syndrome). Although a growing number of genes are being related to this disease, genetic mutations are currently found only in 40% of IHH patients. Case description: Severe congenital hyposmia was diagnosed in a 25-year-old Caucasian man referred to the Ear-Nose-Throat department of our clinic. The patient had no cryptorchidism or micropenis and experienced a physiological puberty; past medical history and physical examination were unremarkable. Olfactory structures appeared hypoplasic, while hypothalamus, pituitary gland, and stalk were normal on MRI (neuroradiological imaging); testosterone levels, as well as pulsatile gonadotropin secretion and other pituitary hormones were unaffected at the time of first referral. At the age of 48, the patient returned to our clinic for sexual complaints, and the finding of low testosterone levels (6.8 and 5.8 nmol/L on two consecutive assessments) with inappropriately normal gonadotropin levels led to the diagnosis of hypogonadotropic hypogonadism. GnRH test was consistent with hypothalamic origin of the defect. Next generation sequencing was then performed revealing a rare heterozygous allelic variant in SPRY4 gene (c.158G>A, p.R53Q). The biological and clinical effects of this gene variant had never been reported before. A diagnosis of Kallmann syndrome was finally established, and the patient was started on testosterone replacement therapy. Conclusion: This case describes the clinical phenotype associated with a rare SPRY4 gene allelic variant, consisting in congenital severe smell defect and adult-onset IHH; in patients with apparently isolated congenital anosmia genetic analysis can be valuable to guide follow up, since IHH can manifest later in adulthood. Characterization of other modifying genes and acquired environmental factors is needed for a better understanding of the physiopathology and clinical manifestations of this disease.

Dataset Information

An Extremely Rare Cause of Isolated Congenital Anosmia.

Publications

An Extremely Rare Cause of Isolated Congenital Anosmia.

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