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Infantile Spasms in a Patient with Williams Syndrome and Craniosynostosis
Author(s) -
Morimoto Masafumi,
An Byongmun,
Ogami Aya,
Shin Noriko,
Sugino Yuriko,
Sawai Yasuko,
Usuku Tomohiro,
Tanaka Masayuki,
Hirai Kiyoshi,
Nishimura Akira,
Hasegawa Koh,
Sugimoto Tohru
Publication year - 2003
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.2003.34703.x
Subject(s) - craniosynostosis , failure to thrive , psychomotor retardation , medicine , short stature , pediatrics , hypsarrhythmia , trigonocephaly , epileptic spasms , adrenocorticotropic hormone , surgery , epilepsy , hormone , pathology , alternative medicine , psychiatry
Summary: A patient with Williams syndrome, craniosynostosis, and infantile spasms is described. At age 6 months, the infant demonstrated infantile spasms and craniosynostosis and was operated on for craniosynostosis and treated with adrenocorticotropic hormone (ACTH) for the infantile spasms. ACTH completely controlled the seizures, but was halted because of the progression of ventricular hypertrophy. The seizure returned, and he was found to have elfin face, failure‐to‐thrive, developmental delay, and dental malformation in addition to congenital heart defects. High‐resolution chromosome analysis revealed interstitial deletion of 7q11.22‐q11.23. Therefore his clinical and cytogenetic diagnosis was Williams syndrome. Thyrotropin‐releasing hormone (TRH) therapy reduced his seizures and improved the findings of EEG without cardiac side effects. In addition, his psychomotor development was slightly improved.