Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles.

Etiology

 CH.X: FLNA mutations

• possible Ehlers-Danlos syndrome

 5p anomalies (duplication of 5p15.1 or trisomy of 5p15.33 (#12654978#))

• possible cardiac malformations (#12654978#)
  • atrial septal defect (secundum)
  • mitral and tricuspid valve prolapse)

References

 Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. 2004 Aug;26(5):326-34. PMID: #15165674#

 Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25;60(6):1033-6. PMID: #12654978#

 Zannolli R, Conversano E, Serracca L, Di Bartolo RM, Molinelli M, Galluzzi P, Mazzei MA, Terrosi-Vagnoli P, Miracco C, De Santi MM, Vatti G, Coviello G, Malandrini A, Gonnelli S, Alessandrini C, Fimiani M. Cortical periventricular heterotopia with ectodermal dysplasia. Am J Med Genet. 2002 Dec 15;113(4):385-9. PMID: #12457413#