Prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo-related ischemic stroke in a young adult.
OBJECTIVE
Cerebral infarction is a rare neurological situation in young adults, usually caused by genetic factors. We report here a case of multiple cerebral infarctions with prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo as a first case report.


METHODS
A 17-year-old female adolescent was admitted to our clinic due to a change in mental status. The patient's neurological examination revealed loss of consciousness and the presence of tetraparesia. Generalized vitiligo was also detected. Magnetic resonance imaging (MRI) and diffusion-weighted investigations (DWIs) showed acute ischemic stroke in the bilateral cerebellum, pons and left occipital regions. Heterozygote prothrombin G20210A mutation was found upon genetic examination. She had never had a menstrual cycle. Laboratory data revealed that the level of luteinizing hormone (LH) was 0.5 mIU/mL (1.1-11.6) and follicle-stimulating hormone (FSH) was 1.7 mIU/mL (2.8-11.3). Therefore, she was diagnosed with hypogonadotropic hypogonadism. The causes of ischemic stroke are heterozygote prothrombin G20210A mutation, generalized vitiligo, and hypogonadotropic hypogonadism. After treatment, the patient's neurological deficit partially improved and she was discharged.


CONCLUSIONS
In order to identify the etiology of ischemic stroke, we suggest physicians take into account heterozygote prothrombin G20210A mutation and endocrine abnormalities, especially hypogonadotropic hypogonadism and generalized vitiligo.
Varoglu
Asuman Orhan
AO
Department of Neurology, Medical School, Ataturk University, Erzurum, Turkey.
Kocatürk
Idris
I
Tatar
Abdulgani
A
D000208:Acute Disease; D000293:Adolescent; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D011516:Prothrombin / Q000235:genetics*; D020521:Stroke / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014820:Vitiligo / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D011516:Prothrombin