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A Teen with Sleep Apnea sans Acid Maltase: A Tale with a Twist 

A Teen with Sleep Apnea sans Acid Maltase: A Tale with a Twist
A Teen with Sleep Apnea sans Acid Maltase: A Tale with a Twist

Nattapong Jaimchariyatam

, Aboussouan Loutfi

, and Jyoti Krishna

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date: 10 December 2018

Case 23 introduces a 17-year-old African-American woman who was referred for a comprehensive sleep and pulmonary evaluation. She had had muscle weakness due to Pompe disease diagnosed at age 12, as well as restrictive lung disease related to scoliosis. She presented with complaints of snoring and witnessed apneas and had been diagnosed with moderate obstructive sleep apnea syndrome (OSAS) associated with severe oxygen desaturation and hypercapnia 3 years earlier. Medical history showed scoliosis surgery due to restrictive lung disease 2 years previous but no history of adenoidectomy or tonsillectomy.

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