Vol 6 | Issue 2 | May-August 2020 | page: 10-13 | Diego Tavoletti, Elisabetta Rosanò, Elisabetta Cerutti, Luca Pecora
Author: Diego Tavoletti , Elisabetta Rosanò , Elisabetta Cerutti , Luca Pecora 
 Department of Biomedical Science and Public Health, Ospedali Riuniti Ancona, Marche Polytechnic University, Via Conca 71, 60126 Ancona, Italy
 Department of Emergency, Ospedali Riuniti Ancona, Via Conca 71, 60126 Ancona, Italy.
Address of Correspondence
Dr. Diego Tavoletti,
Department of Biomedical Science and Public Health, Ospedali Riuniti Ancona, Marche Polytechnic University ,Via Conca 71, 60126 Ancona, Italy.
Anesthetic Management of Scoliosis Correction in Mainzer-Saldino Syndrome: A Case Report
Introduction: Mainzer-Saldino Syndrome is a rare autosomal recessive disease with mutations in genes that encode components involved in ciliary transport. This syndrome is characterized by chronic renal failure, severe retinal dystrophy and skeletal abnormalities including spinal and chest wall deformity resulting in severe respiratory failure.
Case presentation: We report the first successful anesthetic management of a 26-year-old man with Mainzer-Saldino Syndrome who underwent scoliosis deformity surgical correction. The severity of respiratory problems and renal dysfunction that characterize this syndrome require a multidisciplinary preoperative assessment and careful planning of intraoperative management, also in relation to surgical complications.
Conclusions: A careful preoperative assessment is essential for the correct anesthetic management. General anesthesia was safely administered; however a constant modulation of controlled ventilation is required to avoid barotrauma and an invasive hemodynamic monitoring is critical to allow adequate fluid management. Lastly, intraoperative dialysis can be planned in long-lasting surgery with a significant loss and replacement of fluids.
Keywords: Mainzer-Saldino Disease; Ciliopathy; Anaesthesia.
1. Mainzer F, Saldino RM, Ozonoff MB, Minagi H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med. 1970;49:556-62.
2. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl. J Med. 2011;364:1533-43.
3. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26:1039-56.
4. Perrault I, Saunier S, Hanein S, Filho E, Bizet AA, Collins F, et al. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations. Am J Hum Genet. 2012;90:864–70.
5. Borland LM. Anesthesia for children with Jeune’s syndrome (asphyxiating thoracic dystrophy). Anesthesiology 1987;66:86–88.
6. Saletti D, Grigio TR, Tonelli D, Ribeiro Júnior OD, Marini F. Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome. Rev Bras Anestesiol. 2012;62:424–31.
7. Dawson EG, Sherman JE, Kanim LE, Nuwer MR. Spinal cord monitoring. Results of the Scoliosis Research Society and the European Spinal Deformity Society survey. Spine 1991;16:361–4.
8. Browning JL, Heizer ML, Baskin DS. Variations in corticomotor and somatosensory evoked potentials: effects of temperature, halothane anesthesia, and arterial partial pressure of CO2. Anesth Analg. 1992;74:643–8.
9. Sloan T, Rogers J. Dose and timing effect of etomidate on motor evoked potentials elicited by transcranial electric or magnetic stimulation in monkey and baboon.J Clin Monit Comput. 2009;23:253–61.
10. Guest JD, Vanni S, Silbert L. Mild hypothermia, blood loss and complications in elective spinal surgery. Spine J. 2004;4:130–7.
|How to Cite this Article: Tavoletti D, Rosanò E, Cerutti E, Pecora L | Anesthetic Management of Scoliosis Correction in Mainzer-Saldino Syndrome: A Case Report | Journal of Anaesthesia and Critical Care Case Reports | May-August 2020; 6(2): 10-13.|