Polymicrogyria

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
ICD-10 online (WHO version 2019)
MRI of a child with seizures. Coronal representation with thickened and disordered cerebral cortex on both sides in the cingulate gyrus and superior frontal gyrus (arrows). Heterotopias (double arrows)

The Polymicrogyria (from ancient Greek πολύς polys, poly , German , much ' , ancient Greek μικρός micros, microcrystalline , German , small' and ancient Greek γύρος gyros , latinisiert gyrus , German , rotation, bending, here: winding ' ) is a very rare congenital or prenatally acquired malformation with abnormal shape and structure of the cerebral cortex and its surface due to a migration disorder of cortical neurons with pathologically many and too small gyri .

Classification

A classification is possible according to the localization:

  • Bilateral
  • Bilateral-frontal
  • Bilateral-frontoparietal
  • Bilaterally generalized (most pronounced form)
  • Bilateral parasagittal parieto-occipital
  • Bilateral perisylvic (most common location)
  • Focal unilateral (mildest form)
  • Hemispherically unilateral
  • Unilateral

distribution

The frequency is not known; the disease usually occurs sporadically. There is an association with Zellweger syndrome and Smith-Lemli-Opitz syndrome .

In the context of syndromes

Polymicrogyria is one of the main characteristics of the following syndromes :

  • Congenital intrauterine infection-like syndrome , synonyms: BLC-PMG; Baraitser-Brett-Piesowicz Syndrome; Baraitser-Reardon Syndrome; Bilateral band-like calcification with polymicrogyria; Microcephaly - intracranial calcifications - intellectual disability; Pseudo-TORCH syndrome; Bilateral band-like calcification with polymicrogyria
  • Megalencephaly Capillary Malformation Polymicrogyria Syndrome (MCAP) , synonyms: Megalencephaly Capillary Malformation Syndrome; Megalencephaly - Cutis Marmorata Telangiectatica Congenita; MCM; MCMTC; Macrocephaly - Cutis Marmorata Telangiectatica Congenita; Megalencephaly Capillary Malformation Syndrome
  • MPPH syndrome
  • Microcephaly - polymicrogyria - corpus callosum agenesis
  • Occipital pachygyria and polymicrogyria , synonyms: MCD, occipital; Occipital malformations of cortical development
  • Polymicrogyria with optic nerve hypoplasia

root cause

Possible causes are intrauterine infections such as cytomegaly , toxoplasmosis , syphilis , varicella and intrauterine ischemia e.g. B. placental perfusion disorders or fetofetal transfusion syndrome .

So far, individual genetic forms have been known.

Clinical manifestations

Clinical criteria are:

The severity depends on the location and size of the changes.

diagnosis

The diagnosis is made by imaging using magnetic resonance imaging , in which irregularities in the surface of the cerebral cortex, at the transition to the gray matter, and a thickening of the cerebral cortex can be detected.

Differential diagnosis

Other gyration and migratory disorders , focal cortical dysplasia and uglyria are to be distinguished .

therapy

Treatment is limited to anticonvulsant drugs .

literature

  • LP Schilling, RR Kieling, TA Pascoal, HI Kim, MC Lee, YH Kim, E. Paglioli, PR Neto, JC Costa, A. Palmini: Bilateral perisylvian ulegyria: an under-recognized, surgically remediable epileptic syndrome. In: Epilepsia. Volume 54, Number 8, August 2013, pp. 1360-1367, doi: 10.1111 / epi.12160 , PMID 23586600
  • LD Ladino, A. Arteaga, SP Isaza, JA Delgado, JM Vélez, G. Castrillón, V. Calvo, RA Solarte, P. Balaguera, CS Uribe: Correlación de la morfometría por resonancia magnética con los hallazgos clínicos y electroencefalográficos de pacientes con diagnóstico de ulegiria y epilepsia. In: Revista de neurologia. Volume 54, Number 10, May 2012, pp. 601-608, PMID 22573507 .
  • N. Usui, T. Mihara, K. Baba, K. Matsuda, T. Tottori, S. Umeoka, F. Nakamura, K. Terada, K. Usui, Y. Inoue: Posterior cortex epilepsy secondary to ulegyria: is it a surgically remediable syndrome? In: Epilepsia. Volume 49, Number 12, December 2008, pp. 1998-2007, doi: 10.1111 / j.1528-1167.2008.01697.x , PMID 18557774 .

Individual evidence

  1. ↑ a b c d e polymicrogyria. In: Orphanet (Rare Disease Database).
  2. ↑ a b c A. J. Barkovich: Pediatric Neuroimaging. 2nd edition, Raven 1995, pp. 217ff, ISBN 0-7817-0179-1
  3. ↑ a b c Gene Reviews
  4. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  5. ↑ Intrauterine infection-like syndrome, congenital. In: Orphanet (Rare Disease Database).
  6. ↑ Megalencephaly-capillary malformations-polymicrogyria syndrome. In: Orphanet (Rare Disease Database).
  7. ↑ Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. In: Orphanet (Rare Disease Database).
  8. ↑ Microcephaly - polymicrogyria - corpus callosum agenesis. In: Orphanet (Rare Disease Database).
  9. ^ Occipital pachygyria and polymicrogyria. In: Orphanet (Rare Disease Database).
  10. ^ Polymicrogyria with optic nerve hypoplasia. In: Orphanet (Rare Disease Database).
  11. ↑ Polymicrogyria due to TUBB2B gene mutation. In: Orphanet (Rare Disease Database).
  12. ↑ P. Reimer, PM Parizel, F.-A. Stichnoth (Editor): Clinical MR Imaging. A practical approach. Springer, 2nd edition 2006, p. 493, ISBN 3-540-31530-6

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