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Congenital myasthenic syndrome with sleep hypoventilation
Author(s) -
Iannaccone S.T.,
Mills J.K.,
Harris K.M.,
Herman J.H.,
Schochet P.,
Luckett P.
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200007)23:7<1129::aid-mus19>3.0.co;2-m
Subject(s) - medicine , hypoventilation , anesthesia , pediatrics , ventilation (architecture) , cardiology , respiratory system , mechanical engineering , engineering
We report the case of a 13‐year‐old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life‐threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1129–1132, 2000