Infantile spasms and pigmentary mosaicism

SummaryWe 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.