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

Brain & Development
Hirofumi InoueTakashi Ichiyama


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.


Oct 1, 1990·Human Genetics·T HassoldA Robinson
Jul 1, 1993·Epilepsia·S OhtaharaM Sato
Jan 1, 1997·Urologia Internationalis·A YoshidaM Shirai
Nov 27, 1998·Pediatric Neurology·W O TatumP Genton
Jan 3, 2001·Journal of Medical Genetics·T OgataG Nishimura
Jan 26, 2005·Brain & Development·Tomohiro KumadaYasushi Hamada
Sep 16, 2008·Brain : a Journal of Neurology·Nadia Bahi-BuissonThierry Bienvenu

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Feb 22, 2014·Lancet Neurology·David S Hong, Allan L Reiss

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