Rosenberg-Chutorian syndrome

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Classification according to ICD-10
G60.0 Hereditary sensorimotor neuropathy
H47.2 Optic atrophy
H90.3 Bilateral hearing loss due to sensorineural disturbance
ICD-10 online (WHO version 2019)

The Rosenberg Chutorian syndrome is a very rare, to the autosomal dominant optic atrophy associated (ADOA) congenital disease with a combination of progressive hearing loss , polyneuropathy as in Charcot-Marie-Tooth disease and optic atrophy .

Synonyms are: Taylor-Rosenberg-Chutorian syndrome; English Charcot-Marie-Tooth neuropathy X type 5; Charcot-Marie-Tooth, X-linked recessive 5; CMTX5; optic atrophy, polyneuropathy, and deafness; polyneuropathy-deafness-optic atrophy

The name refers to the author of the first description from 1912 by J. Taylor and the authors of a description from 1967 by the American neurologist R. N. Rosenberg and the doctor A. Chutorian .

distribution

The frequency is given as 1 to 9 in 100,000, inheritance is X-linked - recessive .

root cause

The disease is based on mutations in the PRPS1 gene at gene location Xq22.3, which codes for phosphoribosyl pyrophosphate synthetase I.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on the clinical findings and can be confirmed by molecular genetic methods.

Differential diagnosis

The combination of optic atrophy, hearing loss and peripheral neuropathy is also found in Hagemoser-Weinstein-Bresnick syndrome and Iwashita syndrome . Arts syndrome is also to be distinguished .

literature

  • HJ Kim, KM Sohn, ME Shy, KM Krajewski, M. Hwang, JH Park, SY Jang, HH Won, BO Choi, SH Hong, BJ Kim, YL Suh, CS Ki, SY Lee, SH Kim, JW Kim: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). In: The American Journal of Human Genetics . Vol. 81, No. 3, September 2007, pp. 552-558, doi: 10.1086 / 519529 , PMID 17701900 , PMC 1950833 (free full text).
  • M. Sugano, K. Hirayama, T. Saito, T. Tsukamoto, T. Yamamoto: Optic atrophy, sensorineural hearing loss and polyneuropathy - a case of sporadic Rosenberg-Chutorian syndrome. In: Fukushima journal of medical science. Vol. 38, No. 1, June 1992, pp. 57-65, PMID 1292972 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b Charcot-Marie-Tooth disease, X-linked. In: Orphanet (Rare Disease Database).
  3. ↑ J. Taylor Peroneal atrophy. In: Proceedings of the Royal Society of Medicine Part 2, Vol. 5, p. 50
  4. ^ RN Rosenberg, A. Chutorian: Familial opticoacoustic nerve degeneration and polyneuropathy. In: Neurology. Vol. 17, No. 9, September 1967, pp. 827-832, PMID 6069085 .
  5. ^ Charcot-Marie-Tooth disease, X-linked recessive, 5th  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ K. Hagemoser, J. Weinstein, G. Bresnick, R. Nellis, S. Kirkpatrick, RM Pauli: Optic atrophy, hearing loss, and peripheral neuropathy. In: American journal of medical genetics. Vol. 33, No. 1, May 1989, pp. 61-65, doi: 10.1002 / ajmg.1320330108 , PMID 2665489 (review).
  7. ↑ H. Iwashita, N. Inoue, S. Araki, Y. Kuroiwa: Optic atrophy, neural deafness, and distal neurogenic amyotrophy; report of a family with two affected siblings. In: Archives of neurology. Vol. 22, No. 4, April 1970, pp. 357-364, PMID 5417642 .

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