RT Book, Section
A1 Fitzpatrick, Meghan E.
A1 Prendergast, Niall T.
A1 Rivera-Lebron, Belinda
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
A2 McQuaid, Kenneth R.
SR Print(0)
ID 1186013279
T1 Primary Alveolar Hypoventilation
T2 Current Medical Diagnosis & Treatment 2022
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264269389
LK accessmedicine.mhmedical.com/content.aspx?aid=1186013279
RD 2024/04/16
AB Primary  alveolar  hypoventilation  ("Ondine  curse")  is  a  rare  syndrome  of  unknown  cause  characterized  by  inadequate  alveolar  ventilation  despite  normal  neurologic  function  and  normal  airways,  lungs,  chest  wall,  and  ventilatory  muscles.  Hypoventilation  is  even  more  marked  during  sleep.  Individuals  with  this  disorder  are  usually  nonobese  males  in  their  third  or  fourth  decades  who  have  lethargy,  headache,  and  somnolence.  Dyspnea  is  absent.  Physical  examination  may  reveal  cyanosis  and  evidence  of  pulmonary  hypertension  and  cor  pulmonale.  Hypoxemia  and  hypercapnia  are  present  and  improve  with  voluntary  hyperventilation.  Erythrocytosis  is  common.  Treatment  with  ventilatory  stimulants  is  usually  unrewarding.  Augmentation  of  ventilation  by  mechanical  methods  (phrenic  nerve  stimulation,  rocking  bed,  mechanical  ventilators)  has  been  helpful  to  some  patients.  Adequate  oxygenation  should  be  maintained  with  supplemental  oxygen,  but  nocturnal  oxygen  therapy  should  be  prescribed  only  if  diagnostic  nocturnal  polysomnography  has  demonstrated  its  efficacy  and  safety.  Primary  alveolar  hypoventilation  resembles—but  should  be  distinguished  from—central  alveolar  hypoventilation,  in  which  impaired  ventilatory  drive  with  chronic  respiratory  acidemia  and  hypoxemia  follows  an  insult  to  the  brainstem  (eg,  bulbar  poliomyelitis,  infarction,  meningitis,  encephalitis,  trauma).