Infantile spasms in a patient with williams syndrome and craniosynostosis.
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.
Morimoto
Masafumi
M
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. morimoto@koto.kpu-m.ac.jp
An
Byongmun
B
Ogami
Aya
A
Shin
Noriko
N
Sugino
Yuriko
Y
Sawai
Yasuko
Y
Usuku
Tomohiro
T
Tanaka
Masayuki
M
Hirai
Kiyoshi
K
Nishimura
Akira
A
Hasegawa
Koh
K
Sugimoto
Tohru
T
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
D000324:Adrenocorticotropic Hormone