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Case No. 471
2018-02-01~2018-02-28
출제자 : 배윤정
Hit : 248
| Period | 2018-02-01~2018-02-28 |
|---|---|
| Diagnosis | Kallmann syndrome |
| Clinical information | M/8 C.C> 냄새를 잘 못 맡는다 |
| Discussion | Kallmann syndrome MRI (Coronal T2WI): -Absence of the olfactory bulbs and olfactory sulcus -The gyrus rectus and medial orbital gyrus form a single gyrus Gene study: -Polymorphic change at KAL-1 gene Kallmann syndrome -Kallmann syndrome typically combines severe hypogonadotrophic hypogonadism with a complete absence of the sense of smell (anosmia) -Abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons -Associated anomalies: cardiovascular abnormalities, renal agenesis, cryptorchidism, midline defects, sensorineural deafness, small anterior lobe of the pituitary gland, short fourth metacarpal and facial anomalies (cleft lip and palate, enlarged paranasal sinuses, septo-optic dysplasia) -MRI is the modality of choice in assessing the absence of olfactory bulbs and hypoplastic olfactory sulci between gyrus rectus and medial orbital gyrus. A hypoplastic anterior pituitary may also be seen. -Genetics: KAL-1gene mutations |
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