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Pallister–Killian syndrome: an unusual cause of epileptic spasms

Published online by Cambridge University Press:  17 October 2005

Rocio Sánchez-Carpintero
Affiliation:
Great Ormond Street Hospital for Children NHS Trust, University College London, UK.
Ailsa McLellan
Affiliation:
Great Ormond Street Hospital for Children NHS Trust, University College London, UK.
Lucio Parmeggiani
Affiliation:
Department of Developmental Neurosciences, University of Pisa and Research Institute Stella Maris Foundation, Italy.
Annette E Cockwell
Affiliation:
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
Richard J Ellis
Affiliation:
Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, UK.
J Helen Cross
Affiliation:
Great Ormond Street Hospital for Children NHS Trust, University College London, UK.
Susan Eckhardt
Affiliation:
Great Ormond Street Hospital for Children NHS Trust, University College London, UK.
Renzo Guerrini
Affiliation:
Department of Developmental Neurosciences, University of Pisa and Research Institute Stella Maris Foundation, Italy.
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Abstract

Pallister–Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video–electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.

Type
Case Report
Copyright
2005 Mac Keith Press

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