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Subcortical band heterotopia(SBH)

MedGen UID:
336288
Concept ID:
C1848201
Disease or Syndrome
Synonyms: 17-Linked Subcortical Band Heterotopia; DC syndrome; DCX-Related Subcortical Band Heterotopia; Double cortex; Double cortex syndrome; SBH; SUBCORTICAL LAMINAR HETEROTOPIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0032409
Monarch Initiative: MONDO:0020491
OMIM®: 300067; 601545; 607432
Orphanet: ORPHA99796

Definition

Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.

The abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood. [from MedlinePlus Genetics]

Conditions with this feature

Cobblestone lissencephaly without muscular or ocular involvement
MedGen UID:
767571
Concept ID:
C3554657
Disease or Syndrome
Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Complex cortical dysplasia with other brain malformations 3
MedGen UID:
815744
Concept ID:
C3809414
Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.
Complex cortical dysplasia with other brain malformations 4
MedGen UID:
815750
Concept ID:
C3809420
Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.
Van Maldergem syndrome 2
MedGen UID:
816205
Concept ID:
C3809875
Disease or Syndrome
Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390.
Complex cortical dysplasia with other brain malformations 6
MedGen UID:
862720
Concept ID:
C4014283
Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
Band heterotopia of brain
MedGen UID:
924885
Concept ID:
C4284594
Disease or Syndrome
Band heterotopia (BH) is a neuronal migration disorder in which aberrantly located neurons, in the form of a band in the brain white matter, are present below a cortex that appears relatively normal by magnetic resonance imaging (MRI). Clinically, patients show severe developmental delay with intellectual disability, seizures, hypotonia, and hydrocephalus (Kielar et al., 2014, Shaheen et al., 2017).
Van Maldergem syndrome 1
MedGen UID:
1644627
Concept ID:
C4551950
Disease or Syndrome
Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). Genetic Heterogeneity of Van Maldergem Syndrome See also VMLDS2 (615546), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.
Lissencephaly due to LIS1 mutation
MedGen UID:
1657090
Concept ID:
C4749301
Congenital Abnormality
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
MedGen UID:
1684879
Concept ID:
C5231486
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).

Professional guidelines

PubMed

Koenig M, Dobyns WB, Di Donato N
Eur J Paediatr Neurol 2021 Nov;35:147-152. Epub 2021 Oct 7 doi: 10.1016/j.ejpn.2021.09.013. PMID: 34731701
Leventer RJ
J Child Neurol 2005 Apr;20(4):307-12. doi: 10.1177/08830738050200040701. PMID: 15921231
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771

Recent clinical studies

Etiology

Chiba E, Sato N, Kimura Y, Shigemoto Y, Maki H, Arizono E, Hamamoto K, Taniguchi G, Iwasaki M, Ota M, Matsuda H, Nakagawa E
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Vriend I, Oegema R
Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
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Curr Neurol Neurosci Rep 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5. PMID: 21222180
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832

Diagnosis

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J Neuroimaging 2023 Sep-Oct;33(5):731-736. Epub 2023 Jun 25 doi: 10.1111/jon.13141. PMID: 37355835
Koenig M, Dobyns WB, Di Donato N
Eur J Paediatr Neurol 2021 Nov;35:147-152. Epub 2021 Oct 7 doi: 10.1016/j.ejpn.2021.09.013. PMID: 34731701
Vriend I, Oegema R
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Therapy

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J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
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Epileptic Disord 2003 Sep;5 Suppl 2:S115-23. PMID: 14617430
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Prognosis

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Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB
Am J Med Genet A 2017 Jun;173(6):1473-1488. Epub 2017 Apr 25 doi: 10.1002/ajmg.a.38245. PMID: 28440899Free PMC Article
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Cent Nerv Syst Agents Med Chem 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. PMID: 20236041
Leventer RJ
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Clinical prediction guides

Chiba E, Kimura Y, Shimizu-Motohashi Y, Miyagawa N, Ota M, Shigemoto Y, Ohnishi M, Nakaya M, Nakagawa E, Sasaki M, Sato N
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Di Nora A, Costanza G, Pizzo F, Oliva CF, Di Mari A, Greco F, Pavone P
Acta Neurol Belg 2022 Feb;122(1):153-162. Epub 2021 Sep 1 doi: 10.1007/s13760-021-01774-3. PMID: 34471972Free PMC Article
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB
Am J Med Genet A 2017 Jun;173(6):1473-1488. Epub 2017 Apr 25 doi: 10.1002/ajmg.a.38245. PMID: 28440899Free PMC Article
Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E
Cent Nerv Syst Agents Med Chem 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. PMID: 20236041
Leventer RJ
J Child Neurol 2005 Apr;20(4):307-12. doi: 10.1177/08830738050200040701. PMID: 15921231

Recent systematic reviews

Kurzbuch AR, Cooper B, Israni A, Ellenbogen JR
Childs Nerv Syst 2023 Feb;39(2):451-462. Epub 2022 Aug 6 doi: 10.1007/s00381-022-05638-w. PMID: 35933521

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