Title Page
Title:
Management of General Anesthesia for a Patient with Maroteaux Type Acromesomelic Dysplasia Complicated with Obstructive Sleep Apnea Syndrome and Hereditary Myopathy
Authors:
Pai-Ching Huang, M.D.1,2, Ju-Hsin Chang, M.D.1,2, Mei-Ling Shen, M.D.3, Kuen-Bao
Chen, M.D., M.Sc.1, 4
Affiliations:
1 Department of Anesthesiology, China Medical University Hospital, Taichung,
Taiwan, ROC
2 China Medical University, Taichung, Taiwan, ROC
3 Department of Anesthesiology, Taichung Tzu Chi General Hospital, Taichung,
Taiwan, ROC
4 College of Medicine, China Medical University, Taichung, Taiwan, ROC
Corresponding author:
Name: Kuen-Bao Chen, M.D., M.Sc.
Mailing address: No.2, Yuh-Der Road, North District, Taichung City 40447, Taiwan, ROC Tel: +886-4-22052121 Ext. 3562 Fax: +886-4-22052121 Ext. 3598 E-mail: [email protected] Word count: 460 Number of tables: 0 Number of figures: 1 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26
Manuscript
To the Editor:
Oropharynx abnormality may lead to difficult intubation in patients with osteochondrodysplasia [1]. A very rare disease, acromesomelic dysplasia Maroteaux-type (AMDM), which is one of them, however, has not been reported whether or not there is special consideration in terms of airway management. AMDM seldom combined with other significant disease [2]. We report the first case of a patient with AMDM complicated by severe obstructive sleep apnea syndrome (OSAS) and hereditary myopathy underoing smooth management of general anesthesia for elective L4-S1 laminectomy and discectomy.
AMDM, which is first described by Maroteaux in 1971 [3], is a very rare autosomal recessive disorder of progressive osteochondrodysplasia with prevalence about 1/2,000,000 [2]. It is characterized by severe dwarfism and acromesomelia, which represents disproportionately shortened middle and distal segments of four limbs.
The 33-year-old female patient suffered from AMDM, which was diagnosed thirteen years ago based on gene mapping (Affymetrix Genechip Mapping 100K set), in which the linkage data showed abnormality in chromosome 9 [4], and on typical clinical features, such as short stature with disproportionately shortened 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19
distal part of limbs (Figure 1). She also had severe OSAS with apnea-hypopnea index up to 48, and received treatment of bi-level positive airway pressure for three years [5]. Muscle biopsy was performed two years ago due to progressive muscle weakness, and had suggested hereditary muscle atrophy, which was not considered AMDM-related.
Pre-operative evaluation revealed no significant head deformity except prognathia. Neck range of motion was normal. Mallampati classification was grade two. Muscle power of four limbs was four and worse in distal part. Pre-operative lab
data, chest X-ray and pulmonary function test were unremarkable.
Under train-of-four (TOF) monitoring over adductor pollicis, induction agents of fentanyl 100 mcg, 2% lidocaine 40 mg, propofol 100 mg, and cisatracurium 7 mg were given intravenously after sufficient pre-oxygenation. When the patient was apneic, oropharyngeal airway was necessary for mask ventilation. When the second twitch of TOF was disappeared, endotracheal intubation using direct laryngoscope was performed uneventfully under the view of Cormack and Lehane classification grade one. After 2-hour surgical procedure, tracheal extubation was performed under fully awake and recovery of TOF in the operating room. The patient was then discharged smoothly on the fourth post-operative day without any sequela of general
anesthesia. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19
Due to very rare case report, we don’t know whether patients with AMDM may have difficult airway or not. In such situation, succinylcholine may be the first choice of muscle relaxants for induction of general anesthesia. Nevertheless, it’s not the case for this patient because of underlying hereditary myopathy. In conclusion, we report a very rare case of AMDM complicated with hereditary myopathy and OSAS undergoing general anesthesia with cisatracurium smoothly. In this case, AMDM itself seems not to complicate airway management during intubation or
extubation. 1 2 3 4 5 6 7 8 9
References
[1] Hattab FN, al-Khateeb T, Mansour M. Oral manifestations of severe short-limb dwarfism resembling Grebe chondrodysplasia: report of a case. Oral Surg Oral
Med Oral Pathol Oral Radiol Endod. 1996;81(5):550-5.
[2] Olney RC. C-type natriuretic peptide in growth: a new paradigm. Growth Horm IGF Res. 2006;16 Suppl A:S6-14.
[3] Maroteaux P, Martinelli B, Campailla E. Le nanisme acromésomélique. La Presse Med. 1971;42:1839-42.
[4] Sarina GK, Alexander P, Stefan M, Bernhard Z, Ralph TT,2Harmien MZ, LY Shih, Arie H, Matthew LW. Acromesomelic Dysplasia Maroteaux Type Maps
to Human Chromosome 9. Am J Hum Genet. 1998;63:155-62.
[5] Gross JB, Bachenberg KL, Benumof JL, Caplan RA, Connis RT, Coté CJ, Nickinovich DG, Prachand V, Ward DS, Weaver EM, Ydens L, Yu S. American Society of Anesthesiologists Task Force on Perioperative Management. Practice guidelines for the perioperative management of patients with obstructive sleep apnea: a report by the American Society of Anesthesiologists Task Force on Perioperative Management of patients with obstructive sleep apnea. Anesthesiology. 2006;104(5):1081-93.
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19
Figure legends
Figure legends
Figure 1: 33-year-old female patient with acromesomelic dysplasia Maroteaux-type (AMDM), was of typical short stature of 126 cm in height and 36 Kg in weight, and disproportionately shortened forearms, wrists, fingers, legs, and toes (acromesomelia). (Reprinted with permission obtained from the patient.)
1 2 3 4 5 6 7
