A case of Pallister-Killian syndrome associated with West syndrome.

A case of Pallister-Killian syndrome associated with West syndrome. Research Abstract Details 

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A case of Pallister-Killian syndrome associated with West syndrome. Abstract Text:

Hitoshi Yamamoto,Miho Fukuda,Hiroshi Murakami,Noriko Kamiyama,Yusaku Miyamoto,Hitoshi Yamamoto,Miho Fukuda,Hiroshi Murakami,Noriko Kamiyama,Yusaku Miyamoto,

We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome.

A case of Pallister-Killian syndrome associated with West syndrome. Publishing Authors By Initials

H Yamamoto,M Fukuda,H Murakami,N Kamiyama,Y Miyamoto,H Yamamoto,M Fukuda,H Murakami,N Kamiyama,Y Miyamoto,

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A case of Pallister-Killian syndrome associated with West syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Pediatric neurology

VOLUME: 37

Page Numbers: 226-8

Journal Abbreviation: Pediatr. Neurol.

ISSN: 0887-8994

DAY: 3

MONTH: Sep

YEAR: 2007

A case of Pallister-Killian syndrome associated with West syndrome. Information

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LANGUAGE: eng

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Grant and Affiliation Information for A case of Pallister-Killian syndrome associated with West syndrome.

AFFILIATION: Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. h3yama@marianna-u.ac.jp

Country: United States

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MEDLINETA: Pediatr Neurol

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