MR imaging in Kallmann syndrome: a case report

Abstract

Abstract Background A rare genetic disorder called Kallmann syndrome results from a defect in the neuronal migration of olfactory axons and gonadotropin-releasing hormone neurons. MR imaging helps in confirming the diagnosis of Kallmann syndrome with characteristic morphological findings in the brain, in clinically suspicious cases of hypogonadotropic hypogonadism with anosmia/hyposmia. Case presentation A 15-year-old male teenager presented with complaints of a small penis and anosmia. Hormonal assay of gonadotropins and testosterone revealed low serum concentrations. MRI brain revealed the absence of the olfactory bulbs in the olfactory grooves and hypoplastic olfactory sulcus. With the gonadotropic hormonal assay showing low levels and characteristic MR imaging features of absent olfactory tracts and olfactory sulcus, the diagnosis of Kallmann syndrome was confirmed. Conclusions Morphological abnormalities of olfactory tracts and olfactory sulcus can be accurately depicted with MR imaging through anterior fossa in the coronal plane. Therefore, MR imaging of the brain plays a significant role in diagnosing uncommon Kallmann syndrome and other associated brain abnormalities.