Revesz syndrome

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Classification according to ICD-10
D61 Other aplastic anemia
ICD-10 online (WHO version 2019)

The Revesz syndrome is a very rare congenital disease with a combination of aplastic anemia and retinopathy .

The disease can be viewed as a form of dyskeratosis congenita (DKCA3).

Synonyms are: Dyskeratosis congenita with bilateral exudative retinopathy; Retinopathy - anemia - CNS abnormalities; Revesz-Debuse Syndrome

The name refers to the main author of the first description from 1992, which was done by the doctors T. Revesz and colleagues from the United Arab Emirates .

distribution

The frequency is given as less than 1 in 1,000,000, so far only a few people have been reported. The inheritance is autosomal dominant .

root cause

The disease are mutations in TINF2 - gene on chromosome 14 locus q12 based encoding the TRF1-interacting nuclear factor-2.

Clinical manifestations

Clinical criteria are:

In addition, there may be intracerebral calcifications, nail dystrophy or changes to the hair and skin , as well as ataxia and developmental retardation

The extent of anemia appears to determine life expectancy.

literature

  • MP Gupta, KE Talcott, DY Kim, S. Agarwal, S. Mukai: Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. In: Ophthalmic genetics. Vol. 38, No. 1, 2017 Jan-Feb, pp. 51-60, doi: 10.1080 / 13816810.2016.1275019 , PMID 28095086 .
  • GS Sasa, A. Ribes-Zamora, ND Nelson, AA Bertuch: Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. In: Clinical genetics. Vol. 81, No. 5, May 2012, pp. 470-478, doi: 10.1111 / j.1399-0004.2011.01658.x , PMID 21477109 , PMC 3844870 (free full text).
  • SA Savage, N. Giri, GM Baerlocher, N. Orr, PM Lansdorp, BP Alter: TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. In: American Journal of Human Genetics . Vol. 82, No. 2, February 2008, pp. 501-509, doi: 10.1016 / j.ajhg.2007.10.004 , PMID 18252230 , PMC 2427222 (free full text).
  • A. Riyaz, N. Riyaz, MP Jayakrishnan, PT Mohamed Shiras, VT Ajith Kumar, BS Ajith: Revesz syndrome. In: Indian journal of pediatrics. Vol. 74, No. 9, September 2007, pp. 862-863, PMID 17901676 .

Individual evidence

  1. ↑ a b c Revesz syndrome. In: Orphanet (Rare Disease Database).
  2. ^ MH Scheinfeld, YW Lui, EA Kolb et al .: The neuroradiological findings in a case of Revesz syndrome. In: Pediatric Radiology. 37, 2007, p. 1166, doi: 10.1007 / s00247-007-0592-0 .
  3. ↑ a b T. Revesz, S. Fletcher, LI al-Gazali, P. DeBuse: Bilateral retinopathy, aplastic anemia, and central nervous system abnormalities: a new syndrome? In: Journal of medical genetics. Volume 29, Number 9, September 1992, pp. 673-675, PMID 1404302 , PMC 1016105 (free full text).
  4. ^ Revesz syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links