PMID: 9650687Jul 3, 1998Paper

Focal pachypolymicrogyria in three siblings

Pediatric Neurology
K YoshimuraT Kurashige

Abstract

The malformation of focal pachypolymicrogyria might be the manifestation of an X-linked recessive disorder according to the results of this study. Three siblings revealed focal pachypolymicrogyria on magnetic resonance imaging (MRI) and had a strong family history of epilepsy and mental retardation. All three siblings had the same mother; the father of Patient 1 was not related to the mother, but the father of Patients 2 and 3 was related to her. The MRI of the father of Patients 2 and 3 demonstrated focal pachypolymicrogyria. The mother's MRI was normal. In this family, epilepsy or mental retardation was found mainly in the males (Patient 3 was an exception), and they were all born to female members of this family, not male. Patient 3 was probably a homozygote with an X-linked recessive inheritance, and therefore, she demonstrated the most severe clinical findings.

References

Nov 1, 1986·Annals of Neurology·N R Graff-RadfordD Tranel
Apr 1, 1983·The Journal of Pediatrics·W B DobynsD H Ledbetter
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Citations

Jul 13, 2000·Brain & Development·R H CaraballoN Fejerman
Mar 20, 2004·Brain & Development·Roberto Horacio CaraballoNatalio Fejerman
May 3, 2005·Journal of Medical Genetics·A Jansen, E Andermann
Feb 15, 2002·American Journal of Human Genetics·Xianhua PiaoChristopher A Walsh
Dec 26, 2001·Seizure : the Journal of the British Epilepsy Association·R Guerrini, R Carrozzo
Oct 2, 2001·American Journal of Medical Genetics·R Guerrini, R Carrozzo
Jul 14, 2001·American Journal of Medical Genetics·R J LeventerW B Dobyns
Apr 4, 2008·American Journal of Medical Genetics. Part a·Neide F SantosIscia Lopes-Cendes
Jun 17, 1999·Neurology·R BorgattiR Guerrini

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