Congenital myasthenic syndrome with sleep hypoventilation.
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.
Iannaccone
S T
ST
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Mills
J K
JK
Harris
K M
KM
Herman
J H
JH
Schochet
P
P
Luckett
P
P
D000110:Acetylcholinesterase / Q000172:deficiency*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000209:etiology* / Q000628:therapy; D007223:Infant; D008176:Lung Volume Measurements; D008297:Male; D009468:Neuromuscular Diseases / Q000150:complications* / Q000151:congenital* / Q000628:therapy; D017286:Polysomnography; D012121:Respiration, Artificial; D013577:Syndrome
D000110:Acetylcholinesterase