Arts syndrome

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Classification according to ICD-10
E79.8 Other disorders of the purine and pyrimidine metabolism
ICD-10 online (WHO version 2019)

The Arts syndrome is a very rare congenital disease with the main features of a ataxia , deafness and optic atrophy .

Synonyms are: ARTS; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; MRXSARTS; ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MRXS18

The name refers to the first author of the first description from 1993 by the Dutch child neurologist Willem FM Arts .

distribution

The frequency is given as less than 1 in 1,000,000, so far a family has been described in 5 generations. Inheritance is X-linked recessive .

root cause

The disease are mutations in PRPS1 - gene on locus Xq22.3 based (s. Ribose-phosphate diphosphokinase ). A mutation with reduced enzyme activity can also be the cause of the X-linked recessive Rosenberg-Chutorian syndrome (CMTX5) and the X-linked deafness DFNX1, while an increased enzyme activity is present in the case of PRPS1 overactivity .

Clinical manifestations

Clinical criteria are:

  • Manifestation in infancy or as early as the newborn period
  • decreased intelligence
  • Ataxia
  • delayed motor development
  • Hearing loss
  • Loss of vision due to optic atrophy
  • Tendency to infection
  • decreased muscle tone to flaccid tetraplegia and areflexia

Prospect of healing

The prognosis is unfavorable, the patients described died in childhood.

literature

  • K. Maruyama, S. Ogaya, N. Kurahashi, A. Umemura, K. Yamada, A. Hashiguchi, H. Takashima, RJ Torres, K. Aso: Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report . In: Brain & development. Vol. 38, No. 10, November 2016, pp. 954-958, doi: 10.1016 / j.braindev.2016.05.003 , PMID 27256512 .

Individual evidence

  1. ↑ a b c Ataxia - hearing loss - optic atrophy, fatal. In: Orphanet (Rare Disease Database).
  2. ^ Arts syndrome.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ WF Arts, MC Loonen, RC Sengers, JL Slooff: X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. In: Annals of neurology. Volume 33, Number 5, May 1993, pp. 535-539, doi: 10.1002 / ana.410330519 , PMID 8498830 .
  4. ↑ Phosphoribosyl pyrophosphate synthetase overactivity. In: Orphanet (Rare Disease Database).
  5. ^ Disease markers. Vol. 2015, 2015, p. 127013, doi: 10.1155 / 2015/127013 , PMID 26089585 , PMC 4458296 (free full text) (review).

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