title: Infantile spasms in a patient with williams syndrome and craniosynostosis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. morimoto@koto.kpu-m.ac.jp
authors.forename: Masafumi
authors.initials: M
authors.lastname: Morimoto
authors.forename: Byongmun
authors.initials: B
authors.lastname: An
authors.forename: Aya
authors.initials: A
authors.lastname: Ogami
authors.forename: Noriko
authors.initials: N
authors.lastname: Shin
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Sugino
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Sawai
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Usuku
authors.forename: Masayuki
authors.initials: M
authors.lastname: Tanaka
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hirai
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Koh
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Tohru
authors.initials: T
authors.lastname: Sugimoto
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003131:Combined Modality Therapy; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003399:Craniotomy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D000324:Adrenocorticotropic Hormone