Congenital cataracts, facial dysmorphism and neuropathy syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00079052" target="_blank" >RIV/65269705:_____/23:00079052 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00132534
Result on the web
<a href="https://www.ai-online.info/supplements/2023/15-2023/congenital-cataracts-facial-dysmorphism-and-neuropathy-syndrome.html" target="_blank" >https://www.ai-online.info/supplements/2023/15-2023/congenital-cataracts-facial-dysmorphism-and-neuropathy-syndrome.html</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.19224/ai2023.S446" target="_blank" >10.19224/ai2023.S446</a>
Alternative languages
Result language
angličtina
Original language name
Congenital cataracts, facial dysmorphism and neuropathy syndrome
Original language description
The congenital cataracts, facial dysmorphism and neuropathy (CCFDN) syndrome is an extremely rare autosomal recessive disorder with unknown prevalence. This multiorgan disorder is typically described in Roma ethnicity. The first case was described in 1999 in Roma patients from Bulgaria.It is caused and diagnosed by a mutation in CTDP1 gene on chromosome 18q23. This mutation causes an altered transcription process, affecting many cellular processes and functions. The clinical manifestation of the CCFDN syndrome is similar to that of the Marinesco-Sjögren syndrome, but molecular testing has already shown that these syndromes are different. Disease abnormalities include ophthalmic problems, especially bilateral congenital cataract, nystagmus or microcornea, facial dysmorphism with micrognathia, mild development delay, musculoskeletal deformities caused by demyelinating peripheral neuropathy and hypogonadism. These patients undergo ophthalmic surgery of cataracts, corrective orthopaedic surgery like scoliosis or extremities correction. Perioperative management includes close anaesthetic monitoring, postoperative care in ICU is appropriate, except for short noncomplicated surgery, due to potentially lifethreatening complications like epileptic seizures, rhabdomyolysis, pulmonary oedema or inspiratory stridor. The main postoperative complication of patients with CCFDN syndrome is rhabdomyolysis, so we should limit using volatile anaesthetics and depolarising muscle relaxants. Total intravenous anaesthesia, eventually nondepolarising muscle relaxants, are preferred.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30223 - Anaesthesiology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Anasthesiologie & Intensivmedizin
ISSN
0170-5334
e-ISSN
1439-0256
Volume of the periodical
64
Issue of the periodical within the volume
Suppl 15
Country of publishing house
DE - GERMANY
Number of pages
8
Pages from-to
"S446"-"S453"
UT code for WoS article
001163471100002
EID of the result in the Scopus database
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