| A case of Pallister-Killian syndrome associated with West syndrome. | |
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MedLine Citation:
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PMID: 17765815 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Hitoshi Yamamoto; Miho Fukuda; Hiroshi Murakami; Noriko Kamiyama; Yusaku Miyamoto |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 37 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2007 Sep |
Date Detail:
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Created Date: 2007-09-03 Completed Date: 2007-12-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 226-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. h3yama@marianna-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anticonvulsants
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therapeutic use Humans Infant Isochromosomes* Male Mosaicism* Pyridoxal Phosphate / therapeutic use Spasms, Infantile / diagnosis, drug therapy, genetics* Syndrome Valproic Acid / therapeutic use Vitamin B Complex / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 12001-76-2/Vitamin B Complex; 54-47-7/Pyridoxal Phosphate; 99-66-1/Valproic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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