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Case Discussion 17 y/o girl with congenital myopathy

Case Discussion 17 y/o girl with congenital myopathy. Ri 吳青芳 ╱ SC 陳毓仁. Brief History-1. 82 (7y/o): exercise difficulty 86/10 (11y/o): scoliosis s/p Milwaukee brace at McKay Hospital 87/4 (12y/o): Progressive unsteady gait, dyspnea and consciousness loss

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Case Discussion 17 y/o girl with congenital myopathy

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  1. Case Discussion17 y/o girl with congenital myopathy Ri吳青芳 ╱ SC 陳毓仁

  2. Brief History-1 • 82 (7y/o): exercise difficulty • 86/10 (11y/o): scoliosis s/p Milwaukee brace at McKay Hospital • 87/4 (12y/o): Progressive unsteady gait, dyspnea and consciousness loss Cerebellar tumor with brainstem compression s/p emergency tumor excision at McKay H. Tumor: vascular origin Post-op: failure to wean off ventilator Muscle biopsy: limb girdle myopathy Tracheostomy with ventilator Wheelchair-bound since then

  3. Brief History-2 • 88/9 (13y/o): 1st admission to NTUH for weaning Scoliosis at C-T spine Severe restrictive lung defect (FEV1 12.7%) CK: 657 IU/L Muscle biopsy: minimal histological change • 89/2 (14y/o): Scoliosis correction at NCKU • 92/3 (17y/o): Bil. Hamstring & Achilles tendon release at NCKU Then walked by side bar

  4. Brief History-3 • 92/9: 2nd admission to NTUH for abd. pain, poor appetite, episodes of desaturation occurred • 92/10/31: Gastrostomy due to dysphagia (poor swallow function), silent aspiration & upper esophageal swelling • 92/12/3: Gastrostomy revision due to wound discharge & leakage Hickmann catheter insertion

  5. 92.10.31 92.12.03

  6. Pre-op Evaluation • Congenital myopathy (limb girdle myopathy?) mild muscle weakness over bilateral lower limbs scoliosis s/p operation mild oropharyngeal dysphagia with silent aspiration hypercapneic respiratory failure s/p tracheostomy severe restrictive lung defect (FEV1 12.7%) normal cardiac function (LVEF 83% in 88/11) unproved muscle biopsy • Joint contracture s/p operation • Cerebellar tumor s/p excision

  7. Anesthesia Method

  8. Discussion

  9. Diseases of Skeletal Muscle • Denervation atrophy • Muscular dystrophy • Myotonic dystrophy • Ion channel myopathy • Congenital myopathy • Inflammatory myopathy • Toxic myopathy • Disease of neuromucular junction Robbins, Pathological basis of disease, 1999

  10. Muscular dystrophy • Muscular dystrophy is a heterogeneous group of hereditary noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. • It’s clinically characterized by progressive muscle weakness and wasting.

  11. Muscular dystrophyClassification • Sex-linked MDs • Duchenne 10～30 per 100,000 • Becker 3 per 100,000 • Emery-Dreifuss 1 per 100,000 • Autosomal dominant MDs • Fascioscapulohumeral • Distal, Ocular, Oculopharyngeal • Autosomal recessive MDs • Congenital muscular dystrophy (CMD) 7~12 per 100,000 • Pure CMD • Fukuyama CMD • Finnish-type CMD • Walker-Warburg • Limb girdle muscular dystrophy, LGMD ( both AD & AR ) only accounts for 1.3% of patients with muscular dystrophy

  12. Muscular dystrophy Congenital Limb girdle Duchenne, Becker Emery-Dreifuss

  13. Muscular dystrophyClinical manifestations • Duchenne muscular dystrophy • Dystrophin gene mutation (at Xp21) • No abnormality is noted in the patient at birth • The symptoms appear at the age of 2~6 yr, and patients are usually wheelchair-bound by 10 yr. • Rapidly progressive • Not only skeletal muscle but also cardiac and smooth muscle • Death occurs late in the second decade from respiratory complications in over 90% of cases

  14. Muscular dystrophyClinical manifestations • Becker • Similar to Duchenne. Because they still have some functioning dystrophin, the symptoms may occur later and are more mild. • Emery-Dreifuss • Mutation of the X chromosome in the emerin gene • Typically presents at the age of 4~5 years with contractures of the elbows, Achilles tendon (causing toe walking) and posterior cervical muscle. Cardiomyopathy usually presenting as heart block, result in sudden death

  15. Muscular dystrophyClinical manifestations • Limb girdle muscular dystrophy (LGMD) • Originally it’s a diagnosis of exclusion, with symptoms of progressive proximal muscular dystrophy. Now it’s reclassified recording to genetic basis. At least 13 different types can be recognized now. • Autosomal dominant type • Autosomal recessive type • One gene with different phenotypes, one phenotype with different genes

  16. Muscular dystrophyAnesthetic considerations • General principles • More sensitive to the myocardial depressant effects of potent inhaled anesthetics • Succinylcholine is contraindicated because massive rhabdomyolysis, hyperkalemia, and cardiac arrest can occur • Sensitive to nondepolarizing muscle relaxants, they may require a longer recovery time • Vigorous respiratory therapy and ventilatory support may be necessary.

  17. Muscular dystrophyAnesthetic considerations • In Duchenne muscular dystrophy (1) • Obesity is most common • Hypertrophy of the tongue, difficult intubation • Deformities and contractures of the limb joints that will hinder vascular access and also positioning • Spinal deformity may compress the upper respiratory tract • Compromised respiratory function • Heart, persistent sinus tachycardia, arrhythmias, nonspecific murmurs

  18. Muscular dystrophyAnesthetic considerations • In Duchenne muscular dystrophy (2) • The use of halothane, isoflurane, sevoflurane and succinylcholine in DMD child can result in acute rhabdomyolysis, hyperkalemia. • The use of Vecuronium in DMD there can be up to sixfold delay in the recovery of muscle function. Atracurium is currently the drug of choice. • The association of DMD with malignant hyperthermia is not proven. Prophylactic use of dantrolene in known DMD patients may be considered.

  19. Muscular dystrophyAnesthetic considerations • In Emery-Dreifuss muscular dystrophy • Cardiac involvement：atrial standstill is a pathognomonic finding, with a lack of atrial response to intracardiac electrical or mechanical stimulation. • Neck stiffness • Flexion contractures • Muscle involvement：succinylcholine is contraindicated

  20. Myotonic dystrophy( dytrophia myotonica, DM ) • The most frequently inherited neuromuscular disease of adult life • It is a multisystem disease with major cardiac involvement • Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities

  21. Myotonic dystrophyClassification • Type 1 (most common, 98%) • an expansion of CTG repeats in the DMPK gene on chromosome 19 • Prevalence in West: 13.5 per 100,000 • Type 2 • an expansion of CCTG repeats in the ZNF9 gene on chromosome 3 • Type 3 ?

  22. Myotonic dystrophyClinical manifestations • Ptosis and weakness of the facial, jaw, and anterior neck muscles, distal weakness of the limbs progressing to proximal weakness • Myotonia • Cataracts • Cardiac involvement is characterised by progressive conduction system abnormalities, supraventricular and ventricular arrhythmias and, less frequently, myocardial dysfunction and ischaemic heart disease. • Type 1 and type 2 are similar

  23. Myotonic dystrophyAnesthetic considerations (1) • Heart: progressive conduction system abnormalities • Halothane will delay conduction in His-Purkinje system and should be avoided • Mitral regurgitation is common • Lung: restrictive lung disease, and diminished ventilatory responses to hypoxia and hypercapnia • Thiopental and Etomidate are safe to use • Propofol as an induction and maintenance agent is controversial

  24. Myotonic dystrophyAnesthetic considerations (2) • Particularly sensitive to succinylcholine, the development of myotonia may result in difficult intubation and ventilation • Non-depolarizing MR usually have normal or prolonged response, and the reversal of MR may be needed. But the anticholinesterases may precipitate myotonia, presumably a result of increased sensitivity to Ach. Short-acting MR are recommended • The response to a peripheral nerve stimulator must be carefully interpreted because muscle stimulation may trigger myotonia • Cold is a potent trigger of myotonia episodes

  25. Congenital myopathy • Congenital myopathy is a term for any muscle disorder present at birth • Unique morphological features on histochemical or ultrastructural examination of a muscle biopsy • Present in early life or infancy with proximal or generalized hypotonia and weakness • Often with dysmorphic features • Relatively nonprogressive

  26. Congenital myopathyClassification • Nemaline (rod) myopathy (20%) incidence about 2 per 100,000 • Central core disease (16%) • Centronuclear (myotubular) myopathy (14%) • Multi-minicore myopathy (10%) • Fiber type disproportion or type 1 fiber predominance (21%) • Miscellaneous congenital myopathies (19%) • Fingerprint body myopathy • Reducing body myopathy • Sarcotubular myopathy • Hyaline body myopathy • Trilaminar fiber myopathy • Cap myopathy • Zebra body myopathy • Spheroid body myopathy • Cytoplasmic body myopathy • Desmin storage myopathies

  27. Nemaline (rod) myopathy • Facial & Axial weakness (severe) • High-arched narrow palate (severe) • Distal weakness & contractures • Deaths due to respiratory insufficiency Gomori trichrome (GT) stain, Skeletal muscle

  28. Central core myopathy • Dominant inheritance: Often • History of malignant hyperthermia in family (Ryanodine receptor, RYR 1) • Proximal weakness • Relatively non-progressive Nicotinamide adenine dinucleotide (NADH)stain, Skeletal muscle

  29. Centronuclear myopathy • Onset: infancy, early death (5 months) • EOM limitation, ptosis • Respiratory failure • Weakness non-progressive ↑H&E stain ← Trichrome stain

  30. Nemaline MyopathyAnesthetic considerations(1) • Facial dysmorphism: difficult intubation Inhalation induction, awake intubation or use of fiberoptic bronchoscope • Restrictive pulmonary defect: due to myopathy and scoliosis, confirmed by spirometry, tracheal extubation after fully awake and responsive • The question of which anesthetic agent may be used safely

  31. Stephen & Heard, 1983 Mary & Frederick, 1985 Mary & Frederick, 1985 T. Asai, 1992 Pre-op evaluation 18 y/o woman, severe restrictive lung 13 y/o girl, severe restrictive lung, minor facial dysmorphism 14 y/o girl, severe restrictive lung, narrow mandible, high-arched palate 2 y/o boy, high-arched palate, pneumonia episode Op purpose repair of prognathic malocclusion correction of scoliosis correction of scoliosis ASD repair Intubation nasally deep halothane posterior arythenoid, stylet Induction fentanyl 1μg/kg iv, thiopental 4mg/kg iv, nitrous oxide 66%, oxygen 34% thiopentone 5mg/kg, atropine 0.02mg/kg nitrous oxide, oxygen, halothane diazepam 2mg, fentanyl 200μg,pancuronium 2 mg Maintenance nitrous oxide/ oxygen/ enflurane (1.0% ET conc.) + fentanyl + intermittent pancuronium (total dose 0.18mg/kg) fentanyl + halothane nitrous oxide, oxygen, isoflurane high-dose fentanyl + diazepam NM blockade monitor single twitch every 10 sec Muscle relaxant Succinylcholine Pancuronium no no Pancuronium NM blockade reversal atropine 0.02mg/kg, neostigmine 0.06mg/kg iv

  32. Nemaline MyopathyAnesthetic considerations(2) • Resistance to succinylcholine (1mg/kg) under normal pseudocholinesterase, no fasciculation, phase Ⅱ block or hyperkalemia Response to pancuronium (0.08mg/kg) and neostigmine were normal From Stephen and Heard,1983 • Patients can be safely managed without use of muscle relaxant No reported association with malignant hyperthermia From Mary and Frederick, 1985 • Muscle relaxant should be administered in cardiac surgery with high-dose fentanyl anesthesia, to control rigidity, to facilitate intubation and to prevent movement From T. Asai, 1992

  33. Allan&Terry, 1998 D. Breslin, 2000 Euro. J. of Anes., 2002 Pre-op evaluation 32y/o woman restrictive lung & asthma, GERD, TMJ limited movement 53y/o man PEV1 70% 20y/o man easy choking with progressive deformity of jaw, ASA grade Ⅲ s/p tracheostomy Op purpose Arthroplasty of TMJ Tibial nail insertion Correction of deformity of maxilla and mandible Premedication Glycopyrrolate Induction propofol Propofol, remifentanil Propofol, remifentanil Intubation Topical lidocaine & superior laryngeal nerve block→nasal fiberoptic smoothly Pre-existing tracheostomy Maintenance Propofol, nitrous oxide, oxygen Surgical site: bupivacaine Profopol, remifentanil infusion & 60% N2O Propofol, remifentanil Centronuclear MyopathyAnesthetic considerations(1)

  34. Centronuclear MyopathyAnesthetic considerations(2) • Depolarizing muscle relaxant is avoided • Volatile anesthetics were avoided because of the risk of developing MH. • The combination of propofol and remifentanil infusions allowed smooth induction, easy intubation and ventilation, intra-op hemodynamic stability and early recovery and extubation with minimal residual effects. • It is important to monitor NM function before the administration of muscle relaxants. From Allen & Terry, 1998, D.Breslin & J.Reid, 2000

  35. In this case • Assess intubation difficulty tracheostomy already • Pulmonary function test severe restrictive lung defect • Risk of aspiration tracheostomy, atropine • Anesthetic drug of choice Nondepolarizing MR: rocuronium, cisatracurium Sevoflurane reversal of block: atropine and edrophonium

  36. Conclusion • Pre-op evaluation Assess intubation difficulty Look for cardiac conduction abnormality Do pulmonary function test Risk of aspiration • Anesthetic drug Avoid SCC, volatile anesthetic Try low dose & short acting nondepolarizing muscle relaxants

  37. Thanks for your attention! Let’s go to OR!

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