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Ann Child Neurol > Volume 26(4); 2018 > Article
Journal of the Korean Child Neurology Society 2018;26(4):276-279.
DOI: https://doi.org/10.26815/jkcns.2018.26.4.276    Published online December 31, 2018.
A Case of Klinefelter Syndrome with Refractory Seizure in Infant
Sun Kim, Jong Seok Kim, Dong Hyun Kim, Ji Eun Lee, Young Se Kwon
Department of Pediatrics, Inha University School of Medicine, Incheon, Korea
Correspondence:  Young Se Kwon, Tel: +82-32-890-3579, Fax: +82-32-890-2844, 
Email: ysped@inha.ac.kr
Received: 1 October 2018   • Revised: 15 October 2018   • Accepted: 16 October 2018
Klinefelter syndrome a genetic disorder with various clinical manifestations. Neurological symptoms, such as seizures, are rarely reported with Klinefelter syndrome, and it response well to anti-epileptic drugs. A 5-month-old boy visited the Inha university hospital due to jerking movements and hiccups. The patient had been diagnosed with Klinefelter syndrome at birth and had a medical history of admission to the neonatal intensive care unit due to opisthotonus and ocular deviation at 26 days of age. The patient’s serum testosterone level was decreased and his anti-Müllerian hormone level was increased. The brain image examination was normal and the electoencephalography and other blood test results showed no specific findings. However, after admission, the patient recurred generalized tonic-clonic-seizures recurred intermittently even after the administration of antiepileptic drugs. This paper reports a case of non-febrile seizures in a child with Klinefelter syndrome who presented with a refractory course.
Key Words: Klinefelter syndrome, Epilepsy, Infant, Child


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