Congenital cataracts, facial dysmorphism and neuropathy syndrome

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.

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

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30223 Anaesthesiology
• Country of publisher: Germany
• Confidentiality degree: is not subject to a state or trade secret
• WWW: 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
• Tags: 14110233, 14110322, 14110528
• Tags: International impact, Reviewed

Abstract

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.