Christianson Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Christianson syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , microcephaly , hypotonia , movement disorder and early onset epilepsy .

Synonyms are: mental retardation, X-linked - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy; Mental retardation, X-linked, South African type; Angelman-like Syndrome, X-Linked

The name refers to the first author of the first description from 1999 by the South African human geneticist Arnold L. Christianson and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in the SLC9A6 - gene on the X chromosome locus q26.3 based encoding the Na + / H + exchanger protein 6 (NHE-6).

Clinical manifestations

Clinical criteria are:

  • Pronounced intellectual disability, lack of language development
  • Microcephaly
  • early onset epilepsy
  • Movement disorder with hypotonia

There are also ophthalmoplegia , ataxia of the trunk or gait disorder , dystonia , increased salivation , swallowing disorders and gastroesophageal reflux .

diagnosis

In the magnetic resonance imaging can be found:

Elevated glutamate / glutamine concentrations can be found in the basal ganglia .

Differential diagnosis

A distinction is made between Angelman syndrome , spinocerebellar ataxia type 29 and other forms of X-linked intellectual disability .

Prospect of healing

The prognosis is considered unfavorable, with many patients dying at the age of 25 to 30.

literature

  • A. Ilie, AY Gao, J. Reid, A. Boucher, C. McEwan, H. Barrière, GL Lukacs, RA McKinney, J. Orlowski: A Christianson syndrome-linked deletion mutation (∆ (287) ES (288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. In: Molecular neurodegeneration. Vol. 11, No. 1, September 2016, p. 63, doi: 10.1186 / s13024-016-0129-9 , PMID 27590723 , PMC 5010692 (free full text).
  • A. Masurel-Paulet, A. Piton, S. Chancesotte, C. Redin, C. Thauvin-Robinet, Y. Henrenger, D. Minot, A. Creppy, M. Ruffier-Bourdet, J. Thevenon, P. Kuentz, D. Lehalle, A. Curie, G. Blanchard, E. Ghosn, M. Bonnet, M. Archimbaud-Devilliers, F. Huet, O. Perret, N. Philip, JL Mandel, L. Faivre: A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. In: American journal of medical genetics. Part A. Vol. 170, No. 8, August 2016, pp. 2103-2110, doi: 10.1002 / ajmg.a.37765 , PMID 27256868 .
  • DM Stein, A. Gerber, EM Morrow: Inaugural Christianson Syndrome Association conference: families meeting for the first time. In: Journal of neurodevelopmental disorders. Vol. 6, No. 1, 2014, p. 13, doi: 10.1186 / 1866-1955-6-13 , PMID 25273398 , PMC 4038054 (free full text).

Individual evidence

  1. ↑ a b c d e f Christianson syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ AL Christianson, RE Stevenson, CH van der Meyden, J. Pelser, FW Theron, PL van Rensburg, M. Chandler, CE Schwartz: X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localized to Xq24-q27. In: Journal of medical genetics. Vol. 36, No. 10, October 1999, pp. 759-766, PMID 10528855 , PMC 1734236 (free full text).
  3. ^ Mental retardation, X-linked syndromic, Christianson type.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ G. Zanni, S. Barresi, R. Cohen, N. Specchio, L. Basel-Vanagaite, EM Valente, A. Shuper, F. Vigevano, E. Bertini: A novel mutation in the endosomal Na + / H + exchanger NHE6 ( SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). In: Epilepsy research. Vol. 108, No. 4, May 2014, pp. 811-815, doi: 10.1016 / j.eplepsyres.2014.02.009 , PMID 24630051 .
  5. ↑ T. Bosemani, G. Zanni, AL Hartman, R. Cohen, TA Huisman, E. Bertini, A. Poretti: Christianson syndrome: spectrum of neuroimaging findings. In: Neuropediatrics. Vol. 45, No. 4, August 2014, pp. 247-251, doi: 10.1055 / s-0033-1363091 , PMID 24285247 .

Web links