Polymicrogyria with optic nerve hypoplasia

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
Q07.8 Other specified congenital malformations of the nervous system
ICD-10 online (WHO version 2019)

The polymicrogyria with optic nerve hypoplasia is a very rare congenital disease with a combination of polymicrogyria and optic nerve hypoplasia .

Synonyms are: English Polymicrogyria with optic nerve hypoplasia; Cortical dysplasia, complex, with other brain malformations 8

The first description by the British human geneticists Mohammad R. Abdollahi, Ewan Morrison, Tamara Sirey et al. Dates from 2009.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in TUBA8 - gene on chromosome 22 locus q11.21 basis.

Clinical manifestations

Clinical criteria are:

literature

  • L. Zoric, S. Nikolic, M. Stojcic, D. Zoric, S. Jakovljevic: Septo-optic dysplasia plus: a case report. In: BMC Research Notes. 7, 2014, doi: 10.1186 / 1756-0500-7-191

Individual evidence

  1. ↑ a b c Polymicrogyria with optic nerve hypoplasia. In: Orphanet (Rare Disease Database).
  2. ↑ MR Abdollahi, E. Morrison, T. Sirey, Z. Molnar, BE Hayward, IM Carr, K. Springell, CG Woods, M. Ahmed, L. Hattingh, P. Corry, DT Pilz, N. Stoodley, Y. Crow, GR Taylor, DT Bonthron, E. Sheridan: Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. In: American Journal of Human Genetics . Volume 85, number 5, November 2009, pp. 737-744, doi: 10.1016 / j.ajhg.2009.10.007 , PMID 19896110 , PMC 2775839 (free full text).
  3. ^ Cortical Dysplasia, Complex, With Other Brain Malformations 8th  In: Online Mendelian Inheritance in Man . (English)