Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-9-3
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
226-8
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A case of Pallister-Killian syndrome associated with West syndrome.
pubmed:affiliation
Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. h3yama@marianna-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports