Congenital cataracts, facial dysmorphism and neuropathy syndrome

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14110/23:00132534

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Congenital cataracts, facial dysmorphism and neuropathy syndrome

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Congenital cataracts, facial dysmorphism and neuropathy syndrome

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30223 - Anaesthesiology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Anasthesiologie &amp; Intensivmedizin

ISSN

0170-5334

e-ISSN

1439-0256

Svazek periodika

64

Číslo periodika v rámci svazku

Suppl 15

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

8

Strana od-do

"S446"-"S453"

Kód UT WoS článku

001163471100002

EID výsledku v databázi Scopus

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