title: Infantile spasms and pigmentary mosaicism.
abstract: We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when skin manifestations can be subtle. We stress the need for a meticulous search for an etiology in cases of infantile spasms. Diagnostic work-up should include a dermatologic evaluation with skin biopsies for fibroblast culture (and karyotyping) from abnormal pigmented skin areas.
authors.affiliation: H C Andersen Children Hospital, Odense University Hospital, Odense, Denmark. lars.kjaersgaard@dadlnet.dk
authors.forename: Lars K
authors.initials: LK
authors.lastname: Hansen
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.forename: Lotte N
authors.initials: LN
authors.lastname: Krogh
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013036:Spasms, Infantile / Q000150:complications / Q000175:diagnosis / Q000235:genetics*