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Anesthesia Implications of Syndromes and Unusual Disorders 1 APPENDIX A Anesthesia Implications of Syndromes and Unusual Disorders 1 This Appendix contains brief descriptions of common and rare syndromes; their associated anesthetic considerations for safe pediatric anesthesia practice are outlined. Many of these shared features make precise identifi cation diffi cult; the reader should consider all the information provided for informing anes- thetic considerations. Whenever possible , the referenced literature should be con- sulted before anesthesia is undertaken. A brief list of several excellent resources that are up-to-date follows this introduction. In some rare syndromes, the only references are in foreign language journals; we have listed these when an English abstract was appended. Very occasionally, the reference refers to the disease in adults; we still include it when no published pediatric literature was available and where we thought that the adult information provided might be useful. Space limits a complete literature review for each condition, but we have attempted to list the most important and recent publications or case reports. There are now more than 10,000 medical syndromes recorded, so it is inevi- table that this list is incomplete. Although the number of syndromes has increased and existing syndromes have become better understood in part because of genetic studies, anesthesiologists may still encounter unreported dif- fi culties and complications. When in doubt as to the identity and implications of a particular syndrome, the anesthesiologist should make preparations that take into account all possible associated disorders. Recurring challenges that are common in many of these syndromes infl uence the choice of an anesthetic technique, specifi cally the diffi cult airway and con- genital heart defects. The reader is encouraged to consult the chapters that pro- vide approaches to management of the diffi cult airway and specifi c congenital heart defects, which may be adapted to the particular syndrome presented and in accordance with the practice and experience of the anesthesiologist. Those conditions that include impaired renal function require special care when administering radiologic contrast media. Classic descriptions of the clinical 1 Originally adapted from Jones EP, Pelton DA: Can Anaesth Soc J 23:207, 1976 and exten- sively augmented and revised. © Springer International Publishing Switzerland 2016 523 J. Lerman et al., Manual of Pediatric Anesthesia, DOI 10.1007/978-3-319-30684-1 524 Appendix A: Anesthesia Implications of Syndromes… problems of a syndrome may allow the reader to decide when newer drugs and techniques can be used safely in individual cases. References Kliegman RM, editor. Nelson textbook of pediatrics. 19th ed. Philadelphia: Elsevier- Saunders; 2011. http://www.nelsonpediatrics.com . Baum VC, O’Flaherty JE, editors. Anesthesia for genetic, metabolic, & dysmorphic syn- dromes of childhood. 2nd ed. Philadelphia: Lippincott, Williams & Wilkins; 2007. Bissonnette B, Luginbuehl I, Marciniak B, et al., editors. Syndromes: rapid recognition and perioperative implications. New York: McGraw-Hill Medical Publishing Division; 2006. Fleisher LA, editor. Anesthesia and uncommon diseases. 5th ed. Philadelphia: Elsevier- Saunders; 2005. Jones KL, Jones MC, Del Campo Casanelles M, editors. Smith’s recognizable patterns of human malformation. 7th ed. Philadelphia: Elsevier; 2013. Appendix A: Anesthesia Implications of Syndromes… 525 Table continues on the following page. continues on the following Table cation: A case report. J Anesth. Anesth. J A case report. cation: cult but usually is not. Tracheal Tracheal cult but usually is not. lish abstract]. Anaesthesist. Anaesthesist. lish abstract]. cult due to excess lax skin. High incidence of High incidence lax skin. excess cult due to Preoperatively check electrolytes and ensure that electrolytes and ensure check Preoperatively even administered supplementary are corticosteroids for surgeryif by (i.e., anesthesia is unaccompanied MRI or other investigations) Intubation may be diffi may Intubation and depth oftube size insertion best judged by are a smaller tube than weight (not age)—most require Caution with neck their age. by indicated is IV access extension. excessive movements—avoid diffi on in the sitting position when operated complications Anesthesia implications Caution with muscle relaxants and residual weakness. weakness. Caution with and residual relaxants muscle other special recommendations No cation broblastic broblastic uid (CSF) shunts sm. Defective fi Defective sm. child with Aicardi syndrome undergoing laparoscopic Nissen’s fundopli Nissen’s undergoing laparoscopic syndrome Aicardi withchild n therapy in congenital adrenogenital syndrome with salt loss. [German-Eng with syndrome salt loss. adrenogenital n therapy in congenital Most common form of common Most dwarfi syndrome and Saethre-Chotzen See Carpenter syndrome See Apert syndrome virilization of hydrocortisone; synthesize Inability to supplementation, steroid All need perioperative females. ifeven not salt losing See leukodystrophy growth factor 3 (FGFR3) at chromosome 4. Defective bone Defective 4. 3 (FGFR3) at chromosome growth factor formation with rate of decreased endochondral ossifi leads to shorter tubular bones. Foramen magnum or spinal Foramen shorter tubular bones. leads to brain to be related Sleep apnea may occur. may stenosis craniectomy, need suboccipital May compression. stem fl or cerebrospinal laminectomy, Description spasms. Marked myotonia and drowsiness. Repeated Repeated and drowsiness. myotonia Marked spasms. aspiration pneumonia and infantile chorioretinopathy, callosum, corpus Absent 2011;25:123–6 Name Achondroplasia 2003;13(6):547–9 Anaesth. Paediatr management ofAnaesthetic a patient with achondroplasia. G. Korula N, Eipe BS, Krishnan Acrocephalopolysyndactyly Acrocephalosyndactyly Adrenogenital syndrome substitutio Perioperative W. Petrykowski von M, Abel Adrenoleukodystrophy syndrome Aicardi 2007;17(12):1223 Anaesth. Paediatr syndrome. Aicardi with in a child Anesthesia J. Mayhew management ofAnesthetic a Y. Mizuno T, Miwa Y, Terakawa 1984;33(8):374–6 526 Appendix A: Anesthesia Implications of Syndromes… level ++ cult ow (HBF); (HBF); ow ciency) and vitamin K level le, diffi cult airway; have oxide (pneumocephalus) (pneumocephalus) oxide e Reports. 2012;pii: bcr2012006901. bcr2012006901. 2012;pii: e Reports. urane has least effect on HBF. Maintain Maintain urane has least effect on HBF. uid therapy uid Ensure that anti-seizure medications will be given the medications will that anti-seizure be given Ensure Check hemoglobin and Ca morning of surgery. Assess cardiac status (echocardiogram) preoperatively. status (echocardiogram) preoperatively. cardiac Assess profi coagulation Bilirubin, preoperatively. should be checked a regurgitation; encourages Hepatosplenomegaly be necessary prevent to induction may rapid sequence Caution with drugs the liver. aspiration. handled by drugs hepatic blood fl that decrease Avoid isofl Epidural HBF. preserve to volume intravascular but check opioids, over be preferred anesthesia may X-rays). (check anatomy and vertebral clotting state Caution with transport osteoporosis and positioning; (vitamin be present D defi may Check and correct electrolytes to normal values. Renal Renal normal values. electrolytes to Check and correct drugs and caution with excreted impairment; renally fl airway cart at hand. Nasal airway unreliable; may may unreliable; airway Nasal cartairway at hand. and airways prepare obstruct when anesthetized; mobility Limited N.B. laryngeal (LMA). mask airway nitrous Avoid of joints. preoperatively. Care in moving, positioning, and use positioning, in moving, Care preoperatively. diffi of Beware restraints. Anesthesia implications supplementation + eumocephalus may occur. occur. may eumocephalus Disorder of osteoclasts and bone overgrowth. Infantile Infantile ofDisorder and bone overgrowth. osteoclasts ofmalignant at less than 1 year form presents age with because of and seizures thrive hypocalcemia. to failure and obligate bossing, frontal macrocephaly, Lethargy, nasopharyngeal (overgrowth bone) are mouth breathing and pn Hydrocephalus common. marrow from Anemia pathologic fractures. Brittle bones, hepatosplenomegaly sclerosis; with alkali and K Treated calculi. renal (97 %), musculoskeletal (inc. vertebral), ocular, facial, and facial, ocular, vertebral), (inc. musculoskeletal %), (97 of presentation an Variable abnormalities. neurologic cases Severe dominant inherited condition. autosomal transplantation liver necessitate Description rickets, osteomalacia, hypokalemia, tubular acidosis, Renal cardiac have of May Disorder the bile ducts with cholestasis. 10.1136/bcr-2012-006901 10.1136/bcr-2012-006901 Marshall L, Mayhew JF. Anesthesia for a child with Alagille syndrome. Paediatr Anaesth. 2005;15:256–7 Anaesth. Paediatr Alagille with for a child syndrome. Anesthesia JF. Mayhew L, Marshall disease Albers-Schönberg (marble bone disease; osteopetrosis) ofAdministration BMJ Cas a paediatric general anaesthesia to patient with et al. osteopetrosis. I, Demirel Erhan OL, AB, Ozer doi: Albright-Butler syndrome 2001;94(5):221–5 Soc Med. J Royal tubular acidoses. The renal Capasso G. RJ, Unwin Name Alagille syndrome Appendix A: Anesthesia Implications of Syndromes… 527 culty—but usually culty—but Table continues on the following page. continues on the following Table a. 2006;61(4):394–8 a. ure. Am J Med Gen. 1997;69(1):13–6 Gen. J Med Am ure. syndrome: case report. Sao Paulo Med
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