Obstructive Sleep Apnea Syndrome in Acid Maltase Deficiency
作者： Mitchell L. Margolis , Paul Howlett , Rochelle Goldberg , Angela Eftychiadis , Sanford Levine
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摘要: A patient with adult acid maltase deficiency (AMD) developed severe obstructive sleep apnea (OSA) and respiratory insufficiency. Weaning failure was followed by diffuse pneumonia death. At autopsy, profound muscle replacement fibrofatty tissue noted in the tongue diaphragm, while accessory non muscles were variably preserved. To our knowledge, this case represents first detailed clinical description of OSA associated AMD. In addition, we suggest that weakness due to fatty metamorphosis, concert macroglossia, provides a unique pathophy siologic mechanism for OSA.
sci-hub.se 参考文章(11)
PETER HUDGSON, DAVID GARDNER-MEDWIN, M. WORSFOLD, R. J. T. PENNINGTON, JOHN N. WALTON, Adult myopathy from glycogen storage disease due to acid maltase deficiency Brain. ,vol. 91, pp. 435- 462 ,(1968) , 10.1093/BRAIN/91.3.435
Barry A. Lesser, Obstructive Sleep Apnea in Amyloidosis Treated With Nasal Continuous Positive Airway Pressure Archives of Internal Medicine. ,vol. 148, pp. 2285- 2287 ,(1988) , 10.1001/ARCHINTE.1988.00380100125028
A. E. Slonim, R. A. Coleman, M. A. McElligot, J. Najjar, K. Hirschhorn, G. U. Labadie, R. Mrak, O. B. Evans, E. Shipp, R. Presson, Improvement of muscle function in acid maltase deficiency by high‐protein therapy Neurology. ,vol. 33, pp. 34- 34 ,(1983) , 10.1212/WNL.33.1.34
Philip E. M. Smith, Peter M. A. Calverley, Richard H. T. Edwards, Hypoxemia during sleep in Duchenne muscular dystrophy. The American review of respiratory disease. ,vol. 137, pp. 884- 888 ,(1988) , 10.1164/AJRCCM/137.4.884
Timothy B. Hart, Sleep Apnea in Active Acromegaly Archives of Internal Medicine. ,vol. 145, pp. 865- 866 ,(1985) , 10.1001/ARCHINTE.1985.00360050121021
B.N. Malone, C.B. Whitley, A.J. Duvall, K. Belani, R.K. Sibley, N.K.C. Ramsay, J.H. Kersey, W. Krivit, N.T. Berlinger, Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplanation International Journal of Pediatric Otorhinolaryngology. ,vol. 15, pp. 23- 31 ,(1988) , 10.1016/0165-5876(88)90047-X
Jon D. van der Walt, Michael Swash, Janet Leake, Elaine L. Cox, The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle & Nerve. ,vol. 10, pp. 272- 281 ,(1987) , 10.1002/MUS.880100311
William C. Orr, James L. Males, Norman K. Imes, Myxedema and obstructive sleep apnea. The American Journal of Medicine. ,vol. 70, pp. 1061- 1066 ,(1981) , 10.1016/0002-9343(81)90867-6
Bernard J. Mezon, Peter West, John P. Maclean, Meir H. Kryger, Sleep apnea in acromegaly The American Journal of Medicine. ,vol. 69, pp. 615- 623 ,(1980) , 10.1016/0002-9343(80)90477-5
P. ST J. TREND, C. M. WILES, G. T. SPENCER, J. A. MORGAN-HUGHES, B. D. LAKE, A. D. PATRICK, Acid maltase deficiency in adults. Diagnosis and management in five cases. Brain. ,vol. 108, pp. 845- 860 ,(1985) , 10.1093/BRAIN/108.4.845