Innovative Journal Journal of Medical Biomedical and Applied Sciences 2277:4939 10 06 Anaesthesia of an infant with Johanson-Blizzard Syndrome: A case report and review of literature 1 Dr. Smriti Sinha Assistant Professor, Department of Anaesthesiology, Kasturba Medical College, Mangalore, Karnataka, India- 575001 Dr. Joel Chakravarthy Consultant, Department of Anaesthesiology, Bangalore Baptist Hospital, Hebbal, Bangalore, Karnatka, India – 560024 Dr. Varghese K Zachariah Senior Consultant, Department of Anaesthesiology, Bangalore Baptist Hospital, Hebbal, Bangalore, Karnatka, India – 560024 Journal Article https://doi.org/10.15520/ijmhs.v10i03.284 Abstract We present an 8 months old infant with Johanson-Blizzaed syndrome (Autosomal recessive disease) for postero sacral anorectal formation for imperforate anus who required general anaesthesia. An anaesthetic plan for each individual should be personalized as the phenotypic presentation varies over a spectrum of severe form to hypomorphic form. The anaesthetic considerations included pancreatic exocrine insufficiency, mental retardation, hearing impairment, growth delay, hypotonia, lax joints and difficult airway due to short nose, absent ala nasi, receding chin, maxillary hypoplasia and high arched palate. Pre-operative sedation was avoided because of hypotonia of the pharyngeal muscles and difficult airway. Pancreatic enzymes replacement continued with intraoperative sugar monitoring. To the best of our knowledge there have been less than hundred cases reported of JB Syndrome, four cases have been reported from India. There are very limited number of reported case describing anaesthetic considerations of JB Syndrome. Sandhu, B. K., Brueton, M. J., Concurrent Pancreatic and Growth Hormone Insufficiency in Johanson-Blizzard Syndrome, Journal of Pediatric Gastroenterology and Nutrition, 1989, 9, 4, 535, 538, 0277-2116, 10.1097/00005176-198911000-00026, Ovid Technologies (Wolters Kluwer Health), https://dx.doi.org/10.1097/00005176-198911000-00026 Barroso, Kma, Leite, Dfb, , Alvespm, Medeirospfv, De, , Go¬doygp, Johanson-Blizzard syndrome. A case study of oral and systemic manifestations, Int J Ped Otorhinolaryngol Extra, 2009, 5, 180, 182 Johanson-Blizzard Syndrome, Nord, 2013, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract.Accessedon14/12/2018 Al‐Dosari, Mohammed S., Al‐Muhsen, Saleh, Al‐Jazaeri, Ayman, Mayerle, Julia, Zenker, Martin, Alkuraya, Fowzan S., Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement, American Journal of Medical Genetics Part A, 2008, 146A, 14, 1875, 1879, 1552-4825, 1552-4833, 10.1002/ajmg.a.32401, Wiley, https://dx.doi.org/10.1002/ajmg.a.32401 Gershoni-Baruch, Ruth, Lerner, Aaron, Braun, Jacob, Katzir, Yossef, Iancu, Theodore C., Benderly, Avraham, Johanson-Blizzard syndrome: Clinical spectrum and further delineation of the syndrome, American Journal of Medical Genetics, 1990, 35, 4, 546, 551, 0148-7299, 1096-8628, 10.1002/ajmg.1320350421, Wiley, https://dx.doi.org/10.1002/ajmg.1320350421 Almashroki, N, Abdulnabee, M Z, Sukalo, M, Alrajoudi, A, Sharafadeen, I, Zenker, M, Johansan Blizzard syndrome, World journal of Gastroenterology, 2011, 17, 37, 4247, 50 Sukalo, M, Schaflein, E, Schanze, I, Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation- dependent probe amplification analysis, Molecular Genetics & Genomic Medicine, 2017, 5, 6, 774, 780 Kalathia, Mitul B, Johanson-Blizzard syndrome presenting as chronic diarrhoea, Tropical Gastroenterology, 2015, 36, 3, 195, 196, 0250-636X, 10.7869/tg.284, EMED Publishing, https://dx.doi.org/10.7869/tg.284 Godbole, K, Maja, S, Leena, H, Martin, Z, Johanson-Blizzard Syndrome, Indian Pediatr, 2013, 50, 510, 512 Singh, Ankur, Chaudhary, Neha, Dhingra, Dhulika, Sukalo, Maja, Zenker, Martin, Kapoor, Seema, Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype, Indian Journal of Gastroenterology, 2014, 33, 1, 82, 84, 0254-8860, 0975-0711, 10.1007/s12664-013-0391-5, Springer Science and Business Media LLC, https://dx.doi.org/10.1007/s12664-013-0391-5