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Periventricular laminar heterotopia

MedGen UID:
394736
Concept ID:
C2678104
Disease or Syndrome
Synonym: Periventricular Laminar Heterotopia
 
HPO: HP:0032389

Definition

Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.

Periventricular heterotopia usually becomes evident when seizures first appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some people with periventricular heterotopia.

Less commonly, individuals with periventricular heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or lung disease. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeriventricular laminar heterotopia

Conditions with this feature

Lissencephaly due to TUBA1A mutation
MedGen UID:
930822
Concept ID:
C4305153
Congenital Abnormality
A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.

Recent clinical studies

Etiology

Palagallo GJ, McWilliams SR, Sekarski LA, Sharma A, Goyal MS, White AJ
AJNR Am J Neuroradiol 2017 Feb;38(2):383-386. Epub 2016 Nov 10 doi: 10.3174/ajnr.A4980. PMID: 28059706Free PMC Article
Guglielmi V, Floris R, D'Adamo M, Garaci F, Novelli G, Sbraccia P
BMC Med Genet 2016 Mar 9;17:18. doi: 10.1186/s12881-016-0282-6. PMID: 26956990Free PMC Article
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U
Orphanet J Rare Dis 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9. PMID: 26471271Free PMC Article
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R
J Med Genet 2015 Jun;52(6):405-12. Epub 2015 Mar 9 doi: 10.1136/jmedgenet-2014-102959. PMID: 25755106
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale)
Prenat Diagn 2015 Apr;35(4):337-41. Epub 2015 Jan 5 doi: 10.1002/pd.4543. PMID: 25475607

Diagnosis

Palagallo GJ, McWilliams SR, Sekarski LA, Sharma A, Goyal MS, White AJ
AJNR Am J Neuroradiol 2017 Feb;38(2):383-386. Epub 2016 Nov 10 doi: 10.3174/ajnr.A4980. PMID: 28059706Free PMC Article
Guglielmi V, Floris R, D'Adamo M, Garaci F, Novelli G, Sbraccia P
BMC Med Genet 2016 Mar 9;17:18. doi: 10.1186/s12881-016-0282-6. PMID: 26956990Free PMC Article
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U
Orphanet J Rare Dis 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9. PMID: 26471271Free PMC Article
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R
J Med Genet 2015 Jun;52(6):405-12. Epub 2015 Mar 9 doi: 10.1136/jmedgenet-2014-102959. PMID: 25755106
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale)
Prenat Diagn 2015 Apr;35(4):337-41. Epub 2015 Jan 5 doi: 10.1002/pd.4543. PMID: 25475607

Prognosis

Guglielmi V, Floris R, D'Adamo M, Garaci F, Novelli G, Sbraccia P
BMC Med Genet 2016 Mar 9;17:18. doi: 10.1186/s12881-016-0282-6. PMID: 26956990Free PMC Article
Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T
Am J Med Genet A 2012 Aug;158A(8):1897-901. Epub 2012 Jun 27 doi: 10.1002/ajmg.a.35455. PMID: 22740120

Clinical prediction guides

Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U
Orphanet J Rare Dis 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9. PMID: 26471271Free PMC Article
Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T
Am J Med Genet A 2012 Aug;158A(8):1897-901. Epub 2012 Jun 27 doi: 10.1002/ajmg.a.35455. PMID: 22740120

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