Klinefelter’s syndrome complicated with West syndrome in a 4-month-old boy

التفاصيل البيبلوغرافية
العنوان: Klinefelter’s syndrome complicated with West syndrome in a 4-month-old boy
المؤلفون: Takeshi Matsushige, Takashi Ichiyama, Tomoko Orita, Shunji Hasegawa, Hirofumi Inoue
المصدر: Brain and Development. 34:148-150
بيانات النشر: Elsevier BV, 2012.
سنة النشر: 2012
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adrenocorticotropic hormone, Electroencephalography, Klinefelter Syndrome, Developmental Neuroscience, medicine, Humans, Ictal, Psychiatry, X chromosome, Developmental quotient, S syndrome, medicine.diagnostic_test, Infant, West Syndrome, General Medicine, Hypsarrhythmia, Ophthalmoscopy, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Psychology, Spasms, Infantile
الوصف: We, for the first time, report a boy with West syndrome associated with Klinefelter’s syndrome. He developed episodes of repetitive tonic spasms at the age of 4 months. He had developmental delays and hypsarrhythmia on interictal electroencephalography recording. His karyotype turned out to be 47, XXY, while we failed to observe anomalies in his appearance. Adrenocorticotropic hormone therapy with antiepileptic drugs resulted in cessation of tonic spasms, and his developmental quotient was improved by the age of 1 year. Further studies are needed to determine the causal association between West syndrome and Klinefelter’s syndrome.
تدمد: 0387-7604
DOI: 10.1016/j.braindev.2011.03.007
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63511ebb08bb3858c37a84279d3195c9
https://doi.org/10.1016/j.braindev.2011.03.007
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....63511ebb08bb3858c37a84279d3195c9
قاعدة البيانات: OpenAIRE
الوصف
تدمد:03877604
DOI:10.1016/j.braindev.2011.03.007