MICPCH syndrome

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The MICPCH syndrome , acronym for MI kro C ephalie , P ons , C erebellum H ypoplasie , is a very rare congenital disease with the main characteristics that give it its name.

This malformation of the cerebellum belongs to the group of nonsyndromic X-linked mental retardations .

Clinically are mental retardation , possibly nystagmus , to severe mental retardation in the foreground.

Synonyms are: X-linked intellectual disability - microcephaly - brain stem and cerebellar hypoplasia; Intellectual disability, X-linked, type Najm; X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia; Mental retardation, X-linked, Najm type; CASK syndrome

The name refers to the first author of the first description from 2008 by the Hamburg human geneticist Juliane Najm, Denise Horn and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked dominant . So far, about 35 families have been reported; the female gender is more frequently but less severely affected.

root cause

Of the disease are mutations in CASK - gene on the X chromosome locus P11.4 based encoding a protein from the group of membrane-associated guanylate - kinases ( MAGUK coded).

This gene is also involved in type 4 FG syndrome .

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on clinical findings and medical imaging ( magnetic resonance imaging ), and confirmation is made by genetic testing .

therapy

A causal treatment is not known.

literature

  • S. Hayashi, DT Uehara, K. Tanimoto, S. Mizuno, Y. Chinen, S. Fukumura, JI Takanashi, H. Osaka, N. Okamoto, J. Inazawa: Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). In: PLOS ONE . Volume 12, number 8, 2017, p. E0181791, doi: 10.1371 / journal.pone.0181791 , PMID 28783747 , PMC 5546575 (free full text).
  • L. Burglen, S. Chantot-Bastaraud, C. Garel et al .: Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. In: Orphanet Journal of Rare Diseases. Volume 7, March 2012, p. 18, doi: 10.1186 / 1750-1172-7-18 , PMID 22452838 , PMC 3351739 (free full text).
  • A. Hackett, PS Tarpey, A. Licata, J. Cox, A. Whibley, J. Boyle, C. Rogers, J. Grigg, M. Partington, RE Stevenson, J. Tolmie, JR Yates, G. Turner, M. Wilson, AP Futreal, M. Corbett, M. Shaw, J. Gecz, FL Raymond, MR Stratton, CE Schwartz, FE Abidi: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. In: European Journal of Human Genetics . Volume 18, number 5, May 2010, pp. 544-552, doi: 10.1038 / ejhg.2009.220 , PMID 20029458 , PMC 2987321 (free full text).

Individual evidence

  1. ↑ a b c intellectual disability, X-linked, type Najm. In: Orphanet (Rare Disease Database).
  2. ↑ J. Najm, D. Horn, I. Wimplinger et al .: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. In: Nature genetics. Volume 40, Number 9, September 2008, pp. 1065-1067, doi: 10.1038 / ng.194 , PMID 19165920 .
  3. ^ Mental retardation and microcephaly with pontine and cerebellar hypoplasia.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ T. Nakajiri, K. Kobayashi, N. Okamoto, M. Oka, F. Miya, K. Kosaki, H. Yoshinaga: Late-onset epileptic spasms in a female patient with a CASK mutation. In: Brain & development. Volume 37, number 9, October 2015, pp. 919-923, doi: 10.1016 / j.braindev.2015.02.007 , PMID 25765806 (review).

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