Prothrombin G20210A Mutation, Hypogonadotropic Hypogonadism, and Generalized Vitiligo-Related Ischemic Stroke in a Young Adult

Autor:	Asuman Orhan Varoglu, Abdulgani Tatar, İdris Kocatürk
Rok vydání:	2010
Předmět:	Heterozygote medicine.medical_specialty Pediatrics Adolescent media_common.quotation_subject Mutation Missense Vitiligo Neurological examination Brain Ischemia Diagnosis Differential Hypogonadotropic hypogonadism Internal medicine medicine Humans Missense mutation Young adult Stroke Menstrual cycle media_common medicine.diagnostic_test Cerebral infarction business.industry Hypogonadism General Neuroscience Brain General Medicine medicine.disease Magnetic Resonance Imaging Endocrinology Acute Disease Female Prothrombin business
Zdroj:	International Journal of Neuroscience. 120:451-453
ISSN:	1543-5245 0020-7454
DOI:	10.3109/00207451003797702
Popis:	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.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.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.
Databáze:	OpenAIRE
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