BACKGROUND: Congenital cataract, facial dysmorphism, and neuropathy (CCFDN) syndrome is an extremely rare multiorgan disorder. Characteristics include congenital cataracts, facial deformation, extremity deformities, and demyelinating neuropathy. CCFDN syndrome is associated with increased risk during anesthesia including rhabdomyolysis or epileptic seizures. There is a lack of published information about difficult airways in these patients. Difficult airways during intubation represent one of the most dreaded anesthesia complications: A "can not intubate, can not oxygenate" scenario. Presented herein is the first described successful endotracheal intubation of a CCFDN syndrome patient. CASE SUMMARY: We report the anesthetic management of a 13-year-old girl with CCFDN syndrome scheduled for posterior neuromuscular scoliosis correction surgery. The patient suffered from extensive progressive neuromuscular scoliosis with a Cobb angle of 83°. Her limitations included neuropathy and a scoliotic curve. This condition negatively impacted her quality of life. This case reflects the potential anesthetic complications for posterior scoliosis correction and CCFDN syndrome. The challenge for our anesthetic team was the limited amount of data about anesthetic management of this condition. In total, one case report without any data about endotracheal intubation of patients with this condition was available. Endotracheal intubation in our case was uncomplicated. Another focus of our case was the prevention of possible complications associated with this syndrome, including rhabdomyolysis and seizures. Rhabdomyolysis can be triggered by some types of anesthetic agents like suxamethonium or volatile anesthetics, especially in patients with certain types of myopathies. CONCLUSION: Adequate understanding of the anesthetic management of CCFDN syndrome can reduce perioperative complications and improve patient outcome after surgery.

Department of Anesthesiology and Intensive Care Medicine University Hospital Brno Medical Faculty of Masaryk University Brno 62500 Czech Republic

Department of Orthopedic Surgery University Hospital Brno Medical Faculty of Masaryk University Brno 62500 Czech Republic

Department of Pediatric Anesthesiology and Intensive Care Medicine University Hospital Brno Medical Faculty of Masaryk University Brno 62500 Czech Republic

Zobrazit více v PubMed

Lassuthova P, Sišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P. Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies. Orphanet J Rare Dis. 2014;9:46. PubMed PMC

Gray RM. Anesthesia-induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important? PaediatrAnaesth. 2017;27:490–493. PubMed

Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006;1:32. PubMed PMC

Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology. 2002;58:231–236. PubMed

Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W. Long-term follow-up in patients with CCFDN syndrome. Neurology. 2014;83:1337–1344. PubMed

Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology. 2004;111:1415–1423. PubMed

Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet. 1999;7:560–566. PubMed

Masters OW, Bergmans E, Thies KC. Anaesthesia and orphan disease: A child with Congenital Cataract Facial Dysmorphism neuropathy (CCFDN) syndrome: a case report. Eur J Anaesthesiol. 2017;34:178–180. PubMed

Punjasawadwong Y, Phongchiewboon A, Bunchungmongkol N. Bispectral index for improving anaesthetic delivery and postoperative recovery. Cochrane Database Syst Rev 2014: CD003843. PubMed PMC

Toll BJ, Samdani AF, Janjua MB, Gandhi S, Pahys JM, Hwang SW. Perioperative complications and risk factors in neuromuscular scoliosis surgery. J NeurosurgPediatr. 2018;22:207–213. PubMed

Grover M, Bachrach LK. Osteoporosis in Children with Chronic Illnesses: Diagnosis, Monitoring, and Treatment. CurrOsteoporos Rep. 2017;15:271–282. PubMed

Wang AC, Than KD, Etame AB, La Marca F, Park P. Impact of anesthesia on transcranial electric motor evoked potential monitoring during spine surgery: a review of the literature. Neurosurg Focus. 2009;27:E7. PubMed

Katz JA, Murphy GS. Anesthetic consideration for neuromuscular diseases. CurrOpinAnaesthesiol. 2017;30:435–440. PubMed

Racca F, Mongini T, Wolfler A, Vianello A, Cutrera R, Del Sorbo L, Capello EC, Gregoretti C, Massa R, De Luca D, Conti G, Tegazzin V, Toscano A, Ranieri VM. Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. Minerva Anestesiol. 2013;79:419–433. PubMed

Pastorelli F, Di Silvestre M, Vommaro F, Maredi E, Morigi A, Bacchin MR, Bonarelli S, Plasmati R, Michelucci R, Greggi T. Intraoperative monitoring of somatosensory (SSEPs) and transcranial electric motor-evoked potentials (tce-MEPs) during surgical correction of neuromuscular scoliosis in patients with central or peripheral nervous system diseases. Eur Spine J. 2015;24 Suppl 7:931–936. PubMed

Benyahia NM, Breebaart MB, Sermeus L, Vercauteren M. Regional Analgesia Techniques for Spine Surgery: A Review with Special Reference to Scoliosis Fusion. J Spine. 2015;4:208. PubMed PMC