Congenital cataracts, facial dysmorphism and neuropathy
syndrome

J 2023

Congenital cataracts, facial dysmorphism and neuropathy syndrome

HUDEC, Jan and Martina KOSINOVÁ

Basic information

Original name

Congenital cataracts, facial dysmorphism and neuropathy syndrome

Authors

HUDEC, Jan (203 Czech Republic, belonging to the institution) and Martina KOSINOVÁ (203 Czech Republic, belonging to the institution)

Edition

ANASTHESIOLOGIE & INTENSIVMEDIZIN, GERMANY, AKTIV DRUCK & VERLAG GMBH, 2023, 0170-5334

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30223 Anaesthesiology

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 0.700 in 2022

RIV identification code

RIV/00216224:14110/23:00132534

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.19224/ai2023.s446

UT WoS

001163471100002

Keywords in English

Congenital cataracts; facial dysmorphism and neuropathy syndrome; ICD 10: Q87.8; CCFDN syndrome

Abstract

V originále

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.

Citovat

HUDEC, Jan and Martina KOSINOVÁ. Congenital cataracts, facial dysmorphism and neuropathy syndrome. ANASTHESIOLOGIE & INTENSIVMEDIZIN. GERMANY: AKTIV DRUCK & VERLAG GMBH, 2023, vol. 64, No 12, p. "S446"-"S453", 8 pp. ISSN 0170-5334. Available from: https://dx.doi.org/10.19224/ai2023.s446.

@article{2349917,
   author = {Hudec, Jan and Kosinová, Martina},
   article_location = {GERMANY},
   article_number = {12},
   doi = {http://dx.doi.org/10.19224/ai2023.s446},
   keywords = {Congenital cataracts; facial dysmorphism and neuropathy syndrome; ICD 10: Q87.8; CCFDN syndrome},
   language = {eng},
   issn = {0170-5334},
   journal = {ANASTHESIOLOGIE & INTENSIVMEDIZIN},
   title = {Congenital cataracts, facial dysmorphism and neuropathy syndrome},
   url = {https://www.ai-online.info/supplements/2023/15-2023/congenital-cataracts-facial-dysmorphism-and-neuropathy-syndrome.html?backto=107},
   volume = {64},
   year = {2023}
}

TY  - JOUR
ID  - 2349917
AU  - Hudec, Jan - Kosinová, Martina
PY  - 2023
TI  - Congenital cataracts, facial dysmorphism and neuropathy syndrome
JF  - ANASTHESIOLOGIE & INTENSIVMEDIZIN
VL  - 64
IS  - 12
SP  - "S446"-"S453"
EP  - "S446"-"S453"
PB  - AKTIV DRUCK & VERLAG GMBH
SN  - 01705334
KW  - Congenital cataracts
KW  - facial dysmorphism and neuropathy syndrome
KW  - ICD 10: Q87.8
KW  - CCFDN syndrome
UR  - https://www.ai-online.info/supplements/2023/15-2023/congenital-cataracts-facial-dysmorphism-and-neuropathy-syndrome.html?backto=107
N2  - 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.
ER  -

HUDEC, Jan and Martina KOSINOVÁ. Congenital cataracts, facial dysmorphism and neuropathy syndrome. \textit{ANASTHESIOLOGIE \&{} INTENSIVMEDIZIN}. GERMANY: AKTIV DRUCK \&{} VERLAG GMBH, 2023, vol.~64, No~12, p.~''S446''-''S453'', 8 pp. ISSN~0170-5334. Available from: https://dx.doi.org/10.19224/ai2023.s446.

Detailed Information on Publication Record