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Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.

Akiko Hiraiwa1, Kou Matsui2, Yumi Nakayama1

  • 1Department of Child Neurology, NHO Nishiniigata Chuo Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan.

Brain & Development
|November 24, 2020
PubMed
Summary

Pallister-Killian syndrome (PKS) is a rare genetic disorder. This case highlights unique brain abnormalities, polymicrogyria with calcification, in a PKS patient, suggesting CCND2 gene dosage may impact neuronal development.

Keywords:
Array-based CGHCCND2Intracranial calcificationMosaicismPallister-Killian syndromePolymicrogyriaUnilateral

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