Answer for BIR CoW 26 May 2024
Kallmann syndrome with olfactory placode hypoplasia
Findings
Bilateral olfactory bulb appear relatively thin with shallow olfactory sulci. Pituitary appears normal in size and shows normal contrast enhancement.
Discussion
Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Cells that differentiate into Gonadotrophin-releasing hormone (GnRH) secreting neurons originate from within embryonic olfactory epithelium and migrate along fascicles of vomeronasal and terminalis nerves into forebrain. This migration of GnRH neurons does not occur in KS, resulting in GnRH deficiency. In addition, failed neuronal migration from the lateral olfactory placode along the olfactory fila to the forebrain results in aplasia or hypoplasia of the olfactory bulbs and tracts. In MRI, a coronal scanning with large matrix size and decreased intersection gap is recommended to visualize the olfactory bulbs optimally. Axial MR images allow the visualization of the olfactory sulci of the frontal lobes. Findings in KS include absent or hypoplastic olfactory sulci and olfactory bulbs. A hypoplastic anterior pituitary may also be seen. Pathologically, absence of the olfactory bulbs and tracts has been described with Kallmann Syndrome. However, there may be a variable degree of rudimentary olfactory apparatus present.
References:
Zaghouani H, Slim I, Zina NB, Mallat N, Tajouri H, Kraiem C. Kallmann syndrome: MRI findings. Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S142-5. doi: 10.4103/2230-8210.119536. PMID: 24251137; PMCID: PMC3830283. SARER YUREKLI, B., OZDEMIR KUTBAY, N., KITIS, O., OZKINAY, F., SAYGILI, F.. Olfactory Sulcus Hypoplasia Images of a Case With Kallmann Syndrome. Journal of Endocrinology and Metabolism, North America, 5, jul. 2015. Available at: <https://jofem.org/index.php/jofem/article/view/279/345>. Date accessed: 12 May. 2024.
Findings
Bilateral olfactory bulb appear relatively thin with shallow olfactory sulci. Pituitary appears normal in size and shows normal contrast enhancement.
Discussion
Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Cells that differentiate into Gonadotrophin-releasing hormone (GnRH) secreting neurons originate from within embryonic olfactory epithelium and migrate along fascicles of vomeronasal and terminalis nerves into forebrain. This migration of GnRH neurons does not occur in KS, resulting in GnRH deficiency. In addition, failed neuronal migration from the lateral olfactory placode along the olfactory fila to the forebrain results in aplasia or hypoplasia of the olfactory bulbs and tracts. In MRI, a coronal scanning with large matrix size and decreased intersection gap is recommended to visualize the olfactory bulbs optimally. Axial MR images allow the visualization of the olfactory sulci of the frontal lobes. Findings in KS include absent or hypoplastic olfactory sulci and olfactory bulbs. A hypoplastic anterior pituitary may also be seen. Pathologically, absence of the olfactory bulbs and tracts has been described with Kallmann Syndrome. However, there may be a variable degree of rudimentary olfactory apparatus present.
References:
Zaghouani H, Slim I, Zina NB, Mallat N, Tajouri H, Kraiem C. Kallmann syndrome: MRI findings. Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S142-5. doi: 10.4103/2230-8210.119536. PMID: 24251137; PMCID: PMC3830283. SARER YUREKLI, B., OZDEMIR KUTBAY, N., KITIS, O., OZKINAY, F., SAYGILI, F.. Olfactory Sulcus Hypoplasia Images of a Case With Kallmann Syndrome. Journal of Endocrinology and Metabolism, North America, 5, jul. 2015. Available at: <https://jofem.org/index.php/jofem/article/view/279/345>. Date accessed: 12 May. 2024.
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!