de Laguna L.T.-B.,Servicio de Neuro pediatria |
del Campo M.-C.,Hospital Universitario Materno Infantil Vall dHebron |
Santana-Rodriguez A.,Complejo Hospitalario Universitario Insular Materno Infantil |
Santana-Rodriguez A.,Hospital Of Gran Canaria |
And 3 more authors.
Revista de Neurologia | Year: 2014
Introduction. Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p. Case reports. We present three new paediatric cases of this rare entity, its clinical features are described and a literature review is carried out. Conclusions. It is important to be familiar with the syndrome so that it can be diagnosed, since what commonly happens is that, without performing a skin biopsy or buccal smear, the chromosomal abnormality goes undetected if the classic cytogenetic techniques are used. Nowadays, the diagnosis can be performed in blood by means of CGH-array or SNP-array, although the chances of finding the chromosomal anomaly depend on the percentage of mosaicism. © 2014 Revista de Neurología.