TY - JOUR
T1 - Pallister-Killian syndrome
T2 - An unusual cause of epileptic spasms
AU - Sánchez-Carpintero, Rocio
AU - McLellan, Ailsa
AU - Parmeggiani, Lucio
AU - Cockwell, Annette E.
AU - Ellis, Richard J.
AU - Cross, J. Helen
AU - Eckhardt, Susan
AU - Guerrini, Renzo
PY - 2005/11
Y1 - 2005/11
N2 - 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.
AB - 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.
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U2 - 10.1017/S0012162205001623
DO - 10.1017/S0012162205001623
M3 - Article
C2 - 16225743
AN - SCOPUS:27744524654
VL - 47
SP - 776
EP - 779
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
SN - 0012-1622
IS - 11
ER -