title: Aicardi syndrome associated with an embryonal carcinoma.
abstract: A Japanese girl is reported who had the typical clinical features of Aicardi syndrome associated with embryonal carcinoma. She developed infantile spasms at approximately 4 weeks of age; her seizures were intractable in spite of treatment with numerous antiepileptic drugs and ACTH. At 22 months of age, her left cheek gradually became swollen. Laboratory findings were normal except for a marked increase in serum alpha-fetoprotein. A transoral biopsy of the tumor revealed an embryonal carcinoma. This patient is the first reported with Aicardi syndrome and embryonal carcinoma. The relationship between congenital malformations and neoplasms is discussed.
authors.affiliation: Department of Pediatrics, Osaka University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tagawa
authors.forename: T
authors.initials: T
authors.lastname: Mimaki
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: J
authors.initials: J
authors.lastname: Tanaka
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: H
authors.initials: H
authors.lastname: Yabuuchi
mesh_terms: D061085:Agenesis of Corpus Callosum; D002610:Cheek / Q000473:pathology*; D002829:Choroid / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D009062:Mouth Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications*; D013036:Spasms, Infantile / Q000150:complications*; D013577:Syndrome; D013724:Teratoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014603:Uveal Diseases / Q000150:complications