Subependymal heterotopias

Classification according to ICD-10
Q04.8	Other specified congenital malformations of the brain
ICD-10 online (WHO version 2019)

Subependymal heterotopias are a form of neural heterotopia and belong to the group of neuronal migration disorders .

Synonym : Periventricular heterotopia

It is the most common form of neuronal heterotopia; This is characterized by nodular gray matter immediately below the ependyma of the lateral ventricles .

pathology

For the pathology, see Neuronal Heterotopia Pathology .

The nodules consist of nerve cells and glial cells . They are more common on the right side.

Classification

For the classification, see Neural Heterotopia Classification .

Morphologically , a distinction can be made as:

• unilateral focal
• focal on both sides
• diffuse on both sides (ribbon-shaped)

causes

In the majority, this change occurs sporadically, there are also X-chromosomal recessive inheritance and other forms. Depending on the underlying cause, the following forms can be distinguished:

• PVNH1 , classic form, synonyms: FLNA-Related Periventricular Nodular Heterotopia; X-linked periventricular heterotopia , mutations in FLNA - gene on the X chromosome locus q28, X-linked dominant
• PVNH2 , synonym: Periventricular heterotopia with microcephaly; ARPHM , mutations in the ARFGEF2 gene on chromosome 20 locus q13.13, autosomal - recessive
• PVNH3 , mutations on chromosome 5 locus p15.1
• PVNH5 , mutations on chromosome 5 locus q4.3-q15
• PVNH6 , mutations in the ERMARD gene on chromosome 6 locus q27, autosomal dominant
• PVNH7 , mutations in the NEDD4L gene on chromosome 18 locus q21.31, autosomal dominant
• PVNH8 , mutations in the ARF1 gene on chromosome 1 locus q42.13, autosomal dominant

Clinical manifestations

The majority have frequent epileptic seizures and sometimes developmental delay . Compared to other forms of heterotopia, the proportion of those affected with normal development is significantly higher.

diagnosis

The diagnosis is made here by means of an MRI examination and can be carried out prenatally using MRI.

Differential diagnostics

The following are to be distinguished:

• normal periventricular gray matter ( caudate nucleus , thalamus )
• normal germinal matrix zone during the 8th to 26th week of pregnancy
• Subependymal giant cell astrocytoma
• subependymal tuberous sclerosis
• subependymal hemorrhage (1st degree intraventricular, non-traumatic hemorrhage in the fetus and newborn)

literature

• L. Manganaro, M. Saldari, S. Bernardo, C. Aliberti, E. Silvestri: Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies. In: Journal of radiology case reports. Volume 7, number 11, November 2013, pp. 38-45, doi : 10.3941 / jrcr.v7i11.1457 , PMID 24421929 , PMC 3888336 (free full text).

Individual evidence

1. ↑ ^{a b} Birgit Ertl-Wagner: Pediatric Neuroradiology . Springer, Berlin / Heidelberg 2007, ISBN 978-3-642-51767-9 .
2. ↑ ^{a b c} Radiopaedia
3. ↑ heterotopia, nodular periventricular. In: Orphanet (Rare Disease Database).
4. ^ ^{A b} L.A. Mitchell, EM Simon, RA Filly, AJ Barkovich: Antenatal diagnosis of subependymal heterotopia. In: AJNR. American journal of neuroradiology. Volume 21, Number 2, February 2000, pp. 296-300, PMID 10696011 .
5. ↑ ^{a b c} A. A. Abdel Razek, AY Kandell, LG Elsorogy, A. Elmongy, AA Basett: Disorders of cortical formation: MR imaging features. In: AJNR. American journal of neuroradiology. Volume 30, Number 1, January 2009, pp. 4-11, doi: 10.3174 / ajnr.A1223 , PMID 18687750 (review).
6. ^ Heterotopia, periventricular, 1.  In: Online Mendelian Inheritance in Man . (English)
7. ^ Gene Reviews
8. ↑ Periventricular heterotopia with microcephaly.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ periventricular nodular heterotopia 3.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ periventricular nodular heterotopia 5.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ periventricular nodular heterotopia 6.  In: Online Mendelian Inheritance in Man . (English)
12. ↑ periventricular nodular heterotopia 7.  In: Online Mendelian Inheritance in Man . (English)
13. ↑ periventricular nodular heterotopia 8.  In: Online Mendelian Inheritance in Man . (English)
14. ↑ AJ Barkovich, BO Kjos: Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. In: Radiology. Volume 182, Number 2, February 1992, pp. 493-499, doi : 10.1148 / radiology.182.2.1732969 , PMID 1732969 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !