Hypoventilation: Difference between revisions

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==Differentiating type page name here from other Diseases==
==Differentiating hypoventilation from other Diseases==
<small>'''''Abbreviations:''''' '''Ab ('''[[antibody]]'''); ABG ('''[[arterial blood gas]]'''); BMP ('''[[basic metabolic panel]]'''); BPS''' ([[Biophysical profile|biophysical profile score]]'''); CHS''' ([[Congenital central hypoventilation syndrome|central hypoventilation syndrome]]''');''' '''CBC ('''[[Complete blood counts|complete blood count]]'''); CPK ('''[[Creatine phosphokinase]]'''); CSF ('''[[cerebrospinal fluid]]'''); CT ('''[[computed tomography]]''' ); CXR ('''[[chest X-ray]]'''); DMD ('''[[Dystrophin|dystrophin gene]]); ''' ECG ('''[[electrocardiogram]]'''); EMG ('''[[electromyography]]''');''' '''FEF ('''[[Spirometry|forced expiratory flow rate]]'''); FEV1 ('''[[forced expiratory volume]]'''); FRC ('''[[functional residual capacity]]'''); FVC ('''[[forced vital capacity]]'''); GIT ('''[[gastrointestinal tract]]'''); JVD ('''[[jugular vein distention]]'''); MAS ('''[[meconium aspiration syndrome]]); '''MCV ('''[[mean corpuscular volume]]'''); MRI''' ([[magnetic resonance imaging]]'''); NCS ('''[[Nerve conduction studies|Nerve conduction studies''')''']];  '''PEF ('''pulmonary expiratory flow'''); RDS ('''[[Acute respiratory distress syndrome|acute respiratory distress syndrome]]); '''ROHHAD''' (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation'''); RV ('''[[residual volume]]'''); SIRS ('''[[systemic inflammatory response syndrome]]'''); SMN1 ('''[[SMN1|survival of motor neuron 1]]'''); TLC ('''[[total lung capacity]]''')''' '''TSH ('''[[thyroid stimulating hormone]]'''); Vt ('''[[tidal volume]]''');''' '''WBC ('''[[White blood cells|white blood cell]]''');'''</small>
{| class="wikitable"
! rowspan="3" |Diseases
! colspan="10" |Clinical manifestations
! colspan="5" rowspan="2" |Diagnosis
! rowspan="3" |Associated features
|-
! colspan="6" |Symptoms
! colspan="4" |Physical exam
|-
!Chest pain
!Dyspnea
!Orthopnea
!Fever
!Palpitations
!Poor
quality sleep
!Cyanosis
!JVD
!Peripheral edema
!Auscultation
!ABGs
!Lab findings
!Imaging
!Spirometry
!Gold standard
|-
![[Congenital central hypoventilation syndrome|Central hypoventilation syndrome CHS]]<ref name="pmid12640453">{{cite journal| author=Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B et al.| title=Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. | journal=Nat Genet | year= 2003 | volume= 33 | issue= 4 | pages= 459-61 | pmid=12640453 | doi=10.1038/ng1130 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12640453  }} </ref><ref name="pmid14608649">{{cite journal| author=Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME et al.| title=Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. | journal=Am J Med Genet A | year= 2003 | volume= 123A | issue= 3 | pages= 267-78 | pmid=14608649 | doi=10.1002/ajmg.a.20527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14608649  }} </ref><ref name="pmid1256944">{{cite journal| author=Shannon DC, Marsland DW, Gould JB, Callahan B, Todres ID, Dennis J| title=Central hypoventilation during quiet sleep in two infants. | journal=Pediatrics | year= 1976 | volume= 57 | issue= 3 | pages= 342-6 | pmid=1256944 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1256944  }} </ref>
!-
!+
!+
!-
!+/-
!+
!+
!+/-
!+/-
!
* Normal                   
!↓[[Oxygen|O2]], ↑[[CO2]]
!
* [[PHOX2B]]                  [[Screening test|screening testing]]            via fragment            analysis or              sequencing tests   
*  [[Polysomnography]]   
!
* [[Brain imaging|Brain MRI]]              (exclude other      [[Brainstem|brainstem lesions]])
!Normal
!
* [[PHOX2B|Molecular testing      for PHOX2B            mutations]]                                 
!
* [[Hirschsprung's disease|Hirschsprung          disease]]                                       
* [[Neural crest cell|Neural crest            tumors]]                                       
* Box-shaped face                         
* [[Meiosis]]                                     
* [[Strabismus]]                             
|-
![[Asphyxia]]<ref name="pmid15721471">{{cite journal| author=Gluckman PD, Wyatt JS, Azzopardi D, Ballard R, Edwards AD, Ferriero DM et al.| title=Selective head cooling with mild systemic hypothermia after neonatal encephalopathy: multicentre randomised trial. | journal=Lancet | year= 2005 | volume= 365 | issue= 9460 | pages= 663-70 | pmid=15721471 | doi=10.1016/S0140-6736(05)17946-X | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15721471  }} </ref><ref name="pmid16221780">{{cite journal| author=Shankaran S, Laptook AR, Ehrenkranz RA, Tyson JE, McDonald SA, Donovan EF et al.| title=Whole-body hypothermia for neonates with hypoxic-ischemic encephalopathy. | journal=N Engl J Med | year= 2005 | volume= 353 | issue= 15 | pages= 1574-84 | pmid=16221780 | doi=10.1056/NEJMcps050929 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16221780  }} </ref><ref name="pmid21238700">{{cite journal| author=Kluckow M| title=Functional echocardiography in assessment of the cardiovascular system in asphyxiated neonates. | journal=J Pediatr | year= 2011 | volume= 158 | issue= 2 Suppl | pages= e13-8 | pmid=21238700 | doi=10.1016/j.jpeds.2010.11.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21238700  }} </ref>
!-
!+
!+/-
!-
!+/-
!+
!+
!+/-
!+/-
!
* [[Systolic murmurs|Systolic murmur]]     
!↓[[Oxygen|O2]], ↑[[CO2]]
!
* Abnormal [[renal      function tests]]                                       
 
* [[Cardiac troponin I (cTnI) and T (cTnT)|Cardiac troponin          T and I ↑]]                                   
!
* [[Chest X-ray|CXR]]                        typically shows                [[cardiomegaly]]                               
* [[Echocardiography]] (to exclude other        [[Structural heart diseases|structural heart                  diseases]])                                 
!Normal
!
* The fetal                  [[Biophysical profile|biophysical profile              score]]            shows loss of        [[Acceleration|accelerations of      the fetal heart        rate]], decreased      body movement,    [[breathing]],              [[hypotonia]] and        decreased              [[Amniotic fluid|amniotic fluid        volume]]                                       
!
* [[Acute respiratory distress syndrome|Acute respiratory            distress                          syndrome (RDS)]]               
* [[Meconium aspiration syndrome|Meconium              aspiration                syndrome (MAS)]]           
* [[Necrotizing            enterocolitis]]                           
|-
![[Arnold-Chiari malformation|Chiari II malformation (Arnold-Chiari)]]<ref name="pmid18809020">{{cite journal| author=Sarnat HB| title=Disorders of segmentation of the neural tube: Chiari malformations. | journal=Handb Clin Neurol | year= 2008 | volume= 87 | issue=  | pages= 89-103 | pmid=18809020 | doi=10.1016/S0072-9752(07)87006-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18809020  }} </ref><ref name="pmid7229658">{{cite journal| author=Marin-Padilla M, Marin-Padilla TM| title=Morphogenesis of experimentally induced Arnold--Chiari malformation. | journal=J Neurol Sci | year= 1981 | volume= 50 | issue= 1 | pages= 29-55 | pmid=7229658 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7229658  }} </ref><ref name="pmid3714003">{{cite journal| author=Gilbert JN, Jones KL, Rorke LB, Chernoff GF, James HE| title=Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects. | journal=Neurosurgery | year= 1986 | volume= 18 | issue= 5 | pages= 559-64 | pmid=3714003 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3714003  }} </ref>
!-
!+
!+
!-
!+
!+
!-
!-
!-
!
* [[Stridor]]                   
!Normal
!_
!
* [[Ct scan|CT Scan of Brain]]  ([[hydrocephalus]], [[Cerebellar tonsill herniation|herniated cerebellar tonsils]], and a [[Spinal cord|flattened spinal cord]])
!_
![[MRI|MRI Brain]]
!
* [[Myelomeningocele]]
* [[Hydrocephalus]]               
|-
![[Spinal muscular atrophy]]<ref name="pmid26515624">{{cite journal| author=Kolb SJ, Kissel JT| title=Spinal Muscular Atrophy. | journal=Neurol Clin | year= 2015 | volume= 33 | issue= 4 | pages= 831-46 | pmid=26515624 | doi=10.1016/j.ncl.2015.07.004 | pmc=4628728 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26515624  }} </ref><ref name="pmid26022173">{{cite journal| author=Darras BT| title=Spinal muscular atrophies. | journal=Pediatr Clin North Am | year= 2015 | volume= 62 | issue= 3 | pages= 743-66 | pmid=26022173 | doi=10.1016/j.pcl.2015.03.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26022173  }} </ref><ref name="pmid22516079">{{cite journal| author=Mercuri E, Bertini E, Iannaccone ST| title=Childhood spinal muscular atrophy: controversies and challenges. | journal=Lancet Neurol | year= 2012 | volume= 11 | issue= 5 | pages= 443-52 | pmid=22516079 | doi=10.1016/S1474-4422(12)70061-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22516079  }} </ref>
!-
!+
!+
!-
!+/-
!+
!+
!-
!-
!
* [[Stridor]]                         
!_
!
* [[Electromyography]] shows [[Fibrillation|fibrillations]] and positive sharp waves
!_
!_
![[Genetic testing|Molecular genetic testing]]  by detection of [[homozygous]] [[Deletion (genetics)|deletions]] of [[exons]] 7 of the [[SMN1|SMN1 gene]]
!
* Progressive            [[muscle weakness]]          and [[atrophy]]                         
|-
![[Guillain-Barré syndrome]]<ref name="pmid28039863">{{cite journal| author=Anandan C, Khuder SA, Koffman BM| title=Prevalence of autonomic dysfunction in hospitalized patients with Guillain-Barré syndrome. | journal=Muscle Nerve | year= 2017 | volume= 56 | issue= 2 | pages= 331-333 | pmid=28039863 | doi=10.1002/mus.25551 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28039863  }} </ref><ref name="pmid24163275">{{cite journal| author=Fokke C, van den Berg B, Drenthen J, Walgaard C, van Doorn PA, Jacobs BC| title=Diagnosis of Guillain-Barré syndrome and validation of Brighton criteria. | journal=Brain | year= 2014 | volume= 137 | issue= Pt 1 | pages= 33-43 | pmid=24163275 | doi=10.1093/brain/awt285 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24163275  }} </ref><ref name="pmid17503142">{{cite journal| author=Flachenecker P| title=Autonomic dysfunction in Guillain-Barré syndrome and multiple sclerosis. | journal=J Neurol | year= 2007 | volume= 254 Suppl 2 | issue=  | pages= II96-101 | pmid=17503142 | doi=10.1007/s00415-007-2024-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17503142  }} </ref>
!-
!+
!+/-
!-
!+
!+/-
!-
!-
!-
!
* [[Decreased breath sounds|Diminished breath sounds]]
* [[Diminished bowel sounds|Absence of bowel sound]]
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* Albuminocytologic [[Dissociation (chemistry)|dissociation]] on [[CSF analysis]]
!
* [[MRI]] shows                        [[Anterior nerve roots|selective anterior          nerve root                enhancement]]                     
!↓[[FEV1]]
 
↓[[FVC]]
 
↓[[Total lung capacity|TLC]]
!
* [[Nerve conduction studies|Nerve conduction studies (NCS)]] and [[EMG|needle electromyography (EMG)]]
!
* Preceded by mild      [[respiratory]] or [[Gastrointestinal tract|GIT    infection]]                 
* Ascending fashion    of [[weakness]]           
|-
![[Phrenic nerve paralysis|Phrenic nerve injury]]<ref name="pmid3202460">{{cite journal| author=Laroche CM, Carroll N, Moxham J, Green M| title=Clinical significance of severe isolated diaphragm weakness. | journal=Am Rev Respir Dis | year= 1988 | volume= 138 | issue= 4 | pages= 862-6 | pmid=3202460 | doi=10.1164/ajrccm/138.4.862 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3202460  }} </ref><ref name="pmid9619304">{{cite journal| author=Gierada DS, Slone RM, Fleishman MJ| title=Imaging evaluation of the diaphragm. | journal=Chest Surg Clin N Am | year= 1998 | volume= 8 | issue= 2 | pages= 237-80 | pmid=9619304 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9619304  }} </ref><ref name="pmid872664">{{cite journal| author=Sandham JD, Shaw DT, Guenter CA| title=Acute supine respiratory failure due to bilateral diaphragmatic paralysis. | journal=Chest | year= 1977 | volume= 72 | issue= 1 | pages= 96-8 | pmid=872664 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=872664  }} </ref>
!+/-
!+
!+
!+/-
!-
!+/-
!-
!-
!-
!
* Normal                                                             
!Normal                     
!
* [[Complete blood count|CBC]] (to rule out    [[anemia]] as the          cause of [[dyspnea]])
* [[Thyroid function tests|Thyroid function            tests]]                                           
!
* [[Chest X-ray|CXR]] shows            unilateral or            bilateral                    [[Diaphragmatic dysfunction|diaphragmatic          flattening]]                                               
!↓[[Tidal volume|Vt]], ↑[[RV]]
 
[[Anatomical|(anatomical)]]
!
* Fluoroscopic              "sniff" test                ([[Thoracic diaphragm|diaphragmatic]]              movement is            observed                  fluoroscopically      while the patient    sniffs forcefully)                                     
!
* [[Respiratory system|Respiratory]]            insufficiency                                 
|-
![[Myasthenia gravis]]<ref name="pmid16793269">{{cite journal| author=Benatar M| title=A systematic review of diagnostic studies in myasthenia gravis. | journal=Neuromuscul Disord | year= 2006 | volume= 16 | issue= 7 | pages= 459-67 | pmid=16793269 | doi=10.1016/j.nmd.2006.05.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16793269  }} </ref><ref name="pmid18059039">{{cite journal| author=Grob D, Brunner N, Namba T, Pagala M| title=Lifetime course of myasthenia gravis. | journal=Muscle Nerve | year= 2008 | volume= 37 | issue= 2 | pages= 141-9 | pmid=18059039 | doi=10.1002/mus.20950 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18059039  }} </ref><ref name="pmid2277266">{{cite journal| author=Mantegazza R, Beghi E, Pareyson D, Antozzi C, Peluchetti D, Sghirlanzoni A et al.| title=A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy. | journal=J Neurol | year= 1990 | volume= 237 | issue= 6 | pages= 339-44 | pmid=2277266 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2277266  }} </ref>
!-
!+
!+/-
!-
!-
!+
!-
!-
!-
!
* [[Abdominal breathing|Paradoxical          abdominal              breathing]]                             
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* Anti-AChR ab               
* Anti–striated          muscle ab             
* Anti-MuSK ab                   
!
* [[CT-scans|CT]] may show        [[Anterior mediastinum|anterior                    mediastinal mass]]          ([[thymoma]])                         
!↓[[FEV1]],↓[[FVC]]
 
↓[[Total lung capacity|TLC]]
!
* Anti–[[acetylcholine  receptor]] [[antibody  test]]                         
!
* [[Ptosis]]                                           
* [[Diplopia]]                                           
* [[Fatigue]]                                     
|-
![[Muscular dystrophy]]<ref name="pmid7699962">{{cite journal| author=Takasugi T, Ishihara T, Kawamura J, Sasaki K, Toyoda T, Oosumi M et al.| title=[Blood gas changes in Duchenne type muscular dystrophy]. | journal=Nihon Kyobu Shikkan Gakkai Zasshi | year= 1995 | volume= 33 | issue= 1 | pages= 17-22 | pmid=7699962 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7699962  }} </ref><ref name="pmid25755201">{{cite journal| author=Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J et al.| title=Characterization of pulmonary function in Duchenne Muscular Dystrophy. | journal=Pediatr Pulmonol | year= 2015 | volume= 50 | issue= 5 | pages= 487-94 | pmid=25755201 | doi=10.1002/ppul.23172 | pmc=4402127 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25755201  }} </ref>
!+/-
!+
!+/-
!-
!+/-
!+/-
!-
!+/-
!+/-
!
* [[Midsystolic murmur|Mid-systolic              murmur]]                                   
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* [[CPK elevation|Elevated CPK              levels]]                           
* [[ECG]] shows [[right      ventricular strain]]                         
!
* [[Ultrasonography]]      shows [[Echogenicity|increased    echogenicity]] in      the affected              [[Muscle|muscles]]                                   
!↓[[FVC]], ↓[[Peak expiratory flow|PEF]]
!
* [[Genetic testing]] for [[Dystrophin|mutation of the        dystrophin gene          (DMD)]]                     
!
* Waddling, wide-        based [[gait]]                              
* [[Gowers' sign|Gower sign]]                             
|-
![[Pneumonia]]<ref name="pmid10065680">{{cite journal| author=Almirall J, Bolíbar I, Balanzó X, González CA| title=Risk factors for community-acquired pneumonia in adults: a population-based case-control study. | journal=Eur Respir J | year= 1999 | volume= 13 | issue= 2 | pages= 349-55 | pmid=10065680 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10065680  }} </ref><ref name="pmid26747825">{{cite journal| author=Gadsby NJ, Russell CD, McHugh MP, Mark H, Conway Morris A, Laurenson IF et al.| title=Comprehensive Molecular Testing for Respiratory Pathogens in Community-Acquired Pneumonia. | journal=Clin Infect Dis | year= 2016 | volume= 62 | issue= 7 | pages= 817-823 | pmid=26747825 | doi=10.1093/cid/civ1214 | pmc=4787606 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26747825  }} </ref><ref name="pmid25337751">{{cite journal| author=Musher DM, Thorner AR| title=Community-acquired pneumonia. | journal=N Engl J Med | year= 2014 | volume= 371 | issue= 17 | pages= 1619-28 | pmid=25337751 | doi=10.1056/NEJMra1312885 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25337751  }} </ref>
!+
!+
!+/-
!+
!+/-
!+/-
!-
!-
!-
!
* [[Wheeze]], [[Rhonchi]] and [[Crackles]]
!Normal
!
* [[Neutrophilia|↑WBC                        (neutrophilia)]]                               
![[Lobar pneumonia|Lobar consolidation]]
!Normal
!Normal
![[Productive cough]]
|-
![[Aspiration pneumonia|Aspiration]]<ref name="pmid19318678">{{cite journal| author=Wu YC, Hsu PK, Su KC, Liu LY, Tsai CC, Tsai SH et al.| title=Bile acid aspiration in suspected ventilator-associated pneumonia. | journal=Chest | year= 2009 | volume= 136 | issue= 1 | pages= 118-124 | pmid=19318678 | doi=10.1378/chest.08-2668 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19318678  }} </ref><ref name="pmid1008348">{{cite journal| author=Bynum LJ, Pierce AK| title=Pulmonary aspiration of gastric contents. | journal=Am Rev Respir Dis | year= 1976 | volume= 114 | issue= 6 | pages= 1129-36 | pmid=1008348 | doi=10.1164/arrd.1976.114.6.1129 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1008348  }} </ref><ref name="pmid1855371">{{cite journal| author=DePaso WJ| title=Aspiration pneumonia. | journal=Clin Chest Med | year= 1991 | volume= 12 | issue= 2 | pages= 269-84 | pmid=1855371 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1855371  }} </ref>
!+/-
!+
!+/-
!+
!+/-
!+/-
!+
!-
!-
!
* [[Decreased breath sounds|Diminished breath sounds]]
!Normal
!
* [[WBC|↑WBC]]                                                           
* [[Blood cultures]]                     
!
* [[Chest X-ray|CXR]] shows            [[atelectasis]]                           
!↓[[Tidal volume|Vt]], ↑[[Residual volume|RV]]
![[Bronchoscopy]]
!
* [[Choking]]                                   
|-
![[Obstructive sleep apnea]]<ref name="pmid26209328">{{cite journal| author=Abdeyrim A, Zhang Y, Li N, Zhao M, Wang Y, Yao X et al.| title=Impact of obstructive sleep apnea on lung volumes and mechanical properties of the respiratory system in overweight and obese individuals. | journal=BMC Pulm Med | year= 2015 | volume= 15 | issue=  | pages= 76 | pmid=26209328 | doi=10.1186/s12890-015-0063-6 | pmc=4513967 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26209328  }} </ref>
!+
!+
!+/-
!-
!+/-
!+
!+/-
!+/-
!+/-
!
* [[Wheeze]]                                   
* [[Systolic ejection murmur|Systolic ejection      murmur]]                
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* [[Polysomnography]]
!
* [[MRI]] shows              [[enlarged                      adenoids]], [[tonsils]]      and [[soft palate]]             
!↑[[Functional residual capacity|FRC]]
![[Polysomnography]]
!
* [[Snoring|Loud snoring]]           
 
* [[Depression]]                         
* [[Hypertension]]                   
* [[Coronary heart disease|Coronary artery        disease]]                                       
|-
!Pulmonary hypoplasia<ref name="pmid22249145">{{cite journal| author=Vergani P| title=Prenatal diagnosis of pulmonary hypoplasia. | journal=Curr Opin Obstet Gynecol | year= 2012 | volume= 24 | issue= 2 | pages= 89-94 | pmid=22249145 | doi=10.1097/GCO.0b013e3283505a86 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22249145  }} </ref><ref name="pmid22240409">{{cite journal| author=Berger RM, Beghetti M, Humpl T, Raskob GE, Ivy DD, Jing ZC et al.| title=Clinical features of paediatric pulmonary hypertension: a registry study. | journal=Lancet | year= 2012 | volume= 379 | issue= 9815 | pages= 537-46 | pmid=22240409 | doi=10.1016/S0140-6736(11)61621-8 | pmc=3426911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22240409  }} </ref><ref name="pmid18424645">{{cite journal| author=Tsukimori K, Masumoto K, Morokuma S, Yoshimura T, Taguchi T, Hara T et al.| title=The lung-to-thorax transverse area ratio at term and near term correlates with survival in isolated congenital diaphragmatic hernia. | journal=J Ultrasound Med | year= 2008 | volume= 27 | issue= 5 | pages= 707-13 | pmid=18424645 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18424645  }} </ref>
!-
!+
!+/-
!-
!+/-
!+/-
!+
!-
!-
!
* [[Diminished bowel sounds|Breath sounds        may be decreased    or absent]] on the      side of [[hypoplasia]]
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]                     
!
* [[Basic metabolic panel|Abnormal BMP]]         
* [[Echocardiography]] is done to rule out [[cardiac]]                    [[complications]]               
!
* [[Chest X-ray|CXR]] shows              crowded [[ribs]] and    low thoracic-to-      abdominal ratio         
* [[CT scan]] of [[chest]]       
!↑[[Residual volume|RV]]
!_
!
* [[Myopathic|Myopathic facies]]             
|-
![[Metabolic alkalosis]]<ref name="pmid2833137">{{cite journal| author=Mennen M, Slovis CM| title=Severe metabolic alkalosis in the emergency department. | journal=Ann Emerg Med | year= 1988 | volume= 17 | issue= 4 | pages= 354-7 | pmid=2833137 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2833137  }} </ref><ref name="pmid9950389">{{cite journal| author=Fitzgibbons LJ, Snoey ER| title=Severe metabolic alkalosis due to baking soda ingestion: case reports of two patients with unsuspected antacid overdose. | journal=J Emerg Med | year= 1999 | volume= 17 | issue= 1 | pages= 57-61 | pmid=9950389 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9950389  }} </ref><ref name="pmid17364637">{{cite journal| author=Gawarammana IB, Coburn J, Greene S, Dargan PI, Jones AL| title=Severe hypokalaemic metabolic alkalosis following ingestion of gaviscon. | journal=Clin Toxicol (Phila) | year= 2007 | volume= 45 | issue= 2 | pages= 176-8 | pmid=17364637 | doi=10.1080/15563650600981160 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17364637  }} </ref><ref name="pmid7234824">{{cite journal| author=Oster JR, Materson BJ, Rogers AI| title=Laxative abuse syndrome. | journal=Am J Gastroenterol | year= 1980 | volume= 74 | issue= 5 | pages= 451-8 | pmid=7234824 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7234824  }} </ref>
!-
!+
!+/-
!-
!+/-
!+/-
!-
!+/-
!+/-
!_
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]               
!
* [[Anion gap|Serum Anion Gap]] is elevated
* [[Electrolyte disturbance|Abnormal Urine Sodium Ion Concentration]]
!_
!_
!_
!
* [[Hypokalemia]]                 
|-
![[Sepsis]]<ref name="pmid16003052">{{cite journal| author=Graciano AL, Balko JA, Rahn DS, Ahmad N, Giroir BP| title=The Pediatric Multiple Organ Dysfunction Score (P-MODS): development and validation of an objective scale to measure the severity of multiple organ dysfunction in critically ill children. | journal=Crit Care Med | year= 2005 | volume= 33 | issue= 7 | pages= 1484-91 | pmid=16003052 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16003052  }} </ref><ref name="pmid3625400">{{cite journal| author=Wilkinson JD, Pollack MM, Glass NL, Kanter RK, Katz RW, Steinhart CM| title=Mortality associated with multiple organ system failure and sepsis in pediatric intensive care unit. | journal=J Pediatr | year= 1987 | volume= 111 | issue= 3 | pages= 324-8 | pmid=3625400 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3625400  }} </ref><ref name="pmid15636651">{{cite journal| author=Goldstein B, Giroir B, Randolph A, International Consensus Conference on Pediatric Sepsis| title=International pediatric sepsis consensus conference: definitions for sepsis and organ dysfunction in pediatrics. | journal=Pediatr Crit Care Med | year= 2005 | volume= 6 | issue= 1 | pages= 2-8 | pmid=15636651 | doi=10.1097/01.PCC.0000149131.72248.E6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15636651  }} </ref>
!-
!+
!-
!+
!+/-
!+/-
!-
!-
!-
!Normal
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* [[Neutrophilia|CBC shows            ↑WBC                      (neutrophilia)]]                   
!Normal
!Normal
![[SIRS|SIRS criteria]]
!
* [[Chills]]                                           
* [[Confusion]]                           
|-
!ROHHAD<ref name="pmid3991276">{{cite journal| author=duRivage SK, Winter RJ, Brouillette RT, Hunt CE, Noah Z| title=Idiopathic hypothalamic dysfunction and impaired control of breathing. | journal=Pediatrics | year= 1985 | volume= 75 | issue= 5 | pages= 896-8 | pmid=3991276 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3991276  }} </ref><ref name="pmid14320765">{{cite journal| author=FISHMAN LS, SAMSON JH, SPERLING DR| title=PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE). | journal=Am J Dis Child | year= 1965 | volume= 110 | issue=  | pages= 155-61 | pmid=14320765 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14320765  }} </ref><ref name="pmid20727534">{{cite journal| author=Paz-Priel I, Cooke DW, Chen AR| title=Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome. | journal=J Pediatr | year= 2011 | volume= 158 | issue= 2 | pages= 337-9 | pmid=20727534 | doi=10.1016/j.jpeds.2010.07.006 | pmc=3976575 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20727534  }} </ref>
!-
!+
!+/-
!-
!+/-
!+
!+/-
!-
!-
!
* [[Displaced point of maximal impulse|Displaced cardiac    impulse]]                   
 
* [[P2|Loud pulmonic      second heart            sound]]                     
!↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
!
* [[Serum bicarbonate|Abnormal Serum    bicarbonate levels]] 
* [[Polysomnography|Attended                  laboratory                nocturnal                  polysomnography]]   
!
* [[Lateral]] [[neck]]            [[Radiography|radiographs]]            shows [[Airway constriction|airway          narrowing]]                                 
* [[Chest X-ray|CXR]] shows [[Chest wall deformities|chest    wall deformity]]                             
!↓[[Tidal volume|Vt]]
!_
!
* [[Hypothalamus|Hypothalamic]]            [[Endocrine system|endocrine]]                  manifestations           
* [[Tumors]] of [[Neural crest cell|neural crest origin]]           
|}


== Epidemiology and Demographics ==
== Epidemiology and Demographics ==

Revision as of 22:51, 23 February 2018

Hypoventilation
ICD-10 R06.8
DiseasesDB 29214
MeSH D007040

For patient information, click Hypoventilation

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords:

Overview

In medicine, hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate (hypo means "below") to perform needed gas exchange. It generally causes an increased concentration of carbon dioxide (hypercapnia) and respiratory acidosis. It can be caused by medical conditions, by holding one's breath, or by drugs, typically when taken in overdose. Hypoventilation may be dangerous for those with sleep apnea.

Classification

Pathophysiology

Hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate (hypo meaning "below") to perform needed gas exchange. By definition it causes an increased concentration of carbon dioxide (hypercapnia) and respiratory acidosis.

Associated Conditions

  • Disorders like (CCHS) and Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, with Autonomic Dysregulation are recognized as conditions that are associated with hypoventilation. CCHS may be a significant factor in some cases of (SIDS), often termed "cot death" or "crib death".
  • The opposite condition is (too much ventilation), resulting in low carbon dioxide levels, rather than hypercapnia.

Causes

Life Threatening Causes

Common Causes

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect Acetaminophen/Codeine Phosphate, Acetaminophen/Oxycodone Hydrochloride, Alcuronium, Alfentanyl, Alfentanil Hydrochloride, Alprostadil, Amobarbital sodium, Apomorphine, Aspirin/Caffeine/Dihydrocodeine Bitartrate, Aspirin/Codeine Phosphate, Aspirin/Oxycodone Hydrochloride, Atropine Sulfate, Baclofen, Brimonidine, Bupivacaine, Buprenorphine, Buprenorphine Hydrochloride, Buprenorphine/Naloxone, Butalbital/Acetaminophen/Caffeine/Codeine Phosphate, Butalbital/Aspirin/Caffeine/Codeine Phosphate, Butorphanol, Butorphanol Tartrate, Carisoprodol/Aspirin/Codeine Phosphate, Cifenline, Clobazam, Clonazepam, Clonidine, Codeine, Codeine Phosphate/Guaifenesin, Codeine Sulfate, Dantrolene, Desflurane, Dexmedetomidine, Dexmedetomidine Hydrochloride, Diazepam, Diclofenac, Dihydrocodeine, Disulfiram, Droperidol, Enflurane, Ethanol, Fentanyl, Fentanyl Citrate, Fentanyl/Droperidol, Halazepam, Homatropine Methylbromide/Hydrocodone Bitartrate, Hydrocodone, Hydrocodone Bitartrate, Hydrocodone Bitartrate/Acetaminophen, Hydrocodone Bitartrate/Chlorpheniramine Maleate, Hydrocodone Bitartrate/Guaifenesin, Hydrocodone Bitartrate/Ibuprofen, Hydrocodone Bitartrate/Pseudoephedrine Hydrochloride, Hydrocodone Polistirex/Chlorpheniramine Polistirex, Hydrocodone/Chlorpheniramine/Pseudoephedrine, Hydromorphone, Hydromorphone Hydrochloride, Ipratropium, Isoflurane, Ketamine, Ketamine Hydrochloride, Levorphanol, Levorphanol Tartrate, Lidocaine, Lopinavir/Ritonavir, Lorazepam, Magnesium, Meperidine, Meperidine Hydrochloride, Methadone, Methadone Hydrochloride, Methohexital, Methohexital Sodium, Midazolam, Midazolam Hydrochloride, Morphine, Morphine Sulfate, Morphine Sulfate Liposome, Morphine Sulfate/Naltrexone Hydrochloride, Nalbuphine, Nalbuphine Hydrochloride, Nefopam, Neostigmine, Nortriptyline, Onabotulinumtoxina, Opium, Oxaprozin, Oxycodone, Oxycodone Hydrochloride, Oxycodone Hydrochloride/Naloxone Hydrochloride, Oxycodon, Oxycodone Hydrochloride, Oxycodone Hydrochloride/Naloxone Hydrochloride, Oxycodone/Ibuprofen, Oxymorphone, Oxymorphone Hydrochloride, Paregoric, Pancuronium, Pancuronium Bromide, Pentazocine, Pentazocine Hydrochloride/Acetaminophen, Pentazocine Hydrochloride/Naloxone Hydrochloride, Pentazocine Lactate, Pentobarbital, Phenelzine, Polymixinb, Prilocaine, Prilocaine Hydrochloride, Promethazine, Promethazine Hydrochloride, Promethazine Hydrochloride/Codeine Phosphate, Promethazine/Phenylephrine/Codeine Phosphate, Propoxyphene, Propoxyphene Napsylate/Acetaminophen, Quinine, Remifentail, Remifentanil Hydrochloride, Riluzole, Rimabotulinumtoxinb, Secobarbital sodium, Sevoflurane, Sodium Oxybate, Succinylcholine, Succinylcholine Chloride, Sufentanil, Sufentanil Citrate, Tapentadol, Tapentadol Hydrochloride, Thiopental Sodium, Tilidine, Tramadol, Tramadol Hydrochloride, Tromethamine, Zanamivir
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic No underlying causes
Hematologic No underlying causes
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Differentiating hypoventilation from other Diseases

Abbreviations: Ab (antibody); ABG (arterial blood gas); BMP (basic metabolic panel); BPS (biophysical profile score); CHS (central hypoventilation syndrome); CBC (complete blood count); CPK (Creatine phosphokinase); CSF (cerebrospinal fluid); CT (computed tomography ); CXR (chest X-ray); DMD (dystrophin gene);  ECG (electrocardiogram); EMG (electromyography); FEF (forced expiratory flow rate); FEV1 (forced expiratory volume); FRC (functional residual capacity); FVC (forced vital capacity); GIT (gastrointestinal tract); JVD (jugular vein distention); MAS (meconium aspiration syndrome); MCV (mean corpuscular volume); MRI (magnetic resonance imaging); NCS (Nerve conduction studies); PEF (pulmonary expiratory flow); RDS (acute respiratory distress syndrome); ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation); RV (residual volume); SIRS (systemic inflammatory response syndrome); SMN1 (survival of motor neuron 1); TLC (total lung capacity) TSH (thyroid stimulating hormone); Vt (tidal volume); WBC (white blood cell);

Diseases Clinical manifestations Diagnosis Associated features
Symptoms Physical exam
Chest pain Dyspnea Orthopnea Fever Palpitations Poor

quality sleep

Cyanosis JVD Peripheral edema Auscultation ABGs Lab findings Imaging Spirometry Gold standard
Central hypoventilation syndrome CHS[1][2][3] - + + - +/- + + +/- +/-
  • Normal
 ↓O2, ↑CO2 Normal
Asphyxia[4][5][6] - + +/- - +/- + + +/- +/- ↓O2, ↑CO2 Normal
Chiari II malformation (Arnold-Chiari)[7][8][9] - + + - + + - - - Normal _ _ MRI Brain
Spinal muscular atrophy[10][11][12] - + + - +/- + + - - _ _ _ Molecular genetic testing  by detection of homozygous deletions of exons 7 of the SMN1 gene
Guillain-Barré syndrome[13][14][15] - + +/- - + +/- - - - ↓O2, ↑CO2 ↓FEV1

↓FVC

↓TLC

Phrenic nerve injury[16][17][18] +/- + + +/- - +/- - - -
  • Normal
 Normal ↓Vt, ↑RV

(anatomical)

  • Fluoroscopic "sniff" test (diaphragmatic movement is observed fluoroscopically while the patient sniffs forcefully)
Myasthenia gravis[19][20][21] - + +/- - - + - - - ↓O2, ↑CO2
  • Anti-AChR ab
  • Anti–striated muscle ab
  • Anti-MuSK ab
 ↓FEV1,↓FVC

↓TLC

Muscular dystrophy[22][23] +/- + +/- - +/- +/- - +/- +/- ↓O2, ↑CO2 ↓FVC, ↓PEF
Pneumonia[24][25][26] + + +/- + +/- +/- - - - Normal Lobar consolidation Normal Normal Productive cough
Aspiration[27][28][29] +/- + +/- + +/- +/- + - - Normal ↓Vt, ↑RV Bronchoscopy
Obstructive sleep apnea[30] + + +/- - +/- + +/- +/- +/- ↓O2, ↑CO2 ↑FRC Polysomnography
Pulmonary hypoplasia[31][32][33] - + +/- - +/- +/- + - - ↓O2, ↑CO2 ↑RV _
Metabolic alkalosis[34][35][36][37] - + +/- - +/- +/- - +/- +/- _ ↓O2, ↑CO2 _ _ _
Sepsis[38][39][40] - + - + +/- +/- - - - Normal ↓O2, ↑CO2 Normal Normal SIRS criteria
ROHHAD[41][42][43] - + +/- - +/- + +/- - - ↓O2, ↑CO2 ↓Vt _

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Treatment

Pharmacotherapy

  • Respiratory stimulants such as nikethamide were traditionally used to counteract respiratory depression from CNS depressant overdose, but were of only limited effectiveness.
  • A new respiratory stimulant drug called BIMU8 is being investigated which seems to be significantly more effective and may be useful for counteracting the respiratory depression produced by opiates and similar drugs without offsetting their therapeutic effects.
  • If the respiratory depression is from opioid overdose, then the overdose itself is usually treated with an inverse agonist, most likely naloxone, which will itself almost instantaneously stop the respiratory depression if caused by an opioid (and also, depending on the dose, plunge the patient into precipitated withdrawal).

References

  1. ↑ Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B; et al. (2003). "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome". Nat Genet. 33 (4): 459–61. doi:10.1038/ng1130. PMID 12640453.
  2. ↑ Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME; et al. (2003). "Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b". Am J Med Genet A. 123A (3): 267–78. doi:10.1002/ajmg.a.20527. PMID 14608649.
  3. ↑ Shannon DC, Marsland DW, Gould JB, Callahan B, Todres ID, Dennis J (1976). "Central hypoventilation during quiet sleep in two infants". Pediatrics. 57 (3): 342–6. PMID 1256944.
  4. ↑ Gluckman PD, Wyatt JS, Azzopardi D, Ballard R, Edwards AD, Ferriero DM; et al. (2005). "Selective head cooling with mild systemic hypothermia after neonatal encephalopathy: multicentre randomised trial". Lancet. 365 (9460): 663–70. doi:10.1016/S0140-6736(05)17946-X. PMID 15721471.
  5. ↑ Shankaran S, Laptook AR, Ehrenkranz RA, Tyson JE, McDonald SA, Donovan EF; et al. (2005). "Whole-body hypothermia for neonates with hypoxic-ischemic encephalopathy". N Engl J Med. 353 (15): 1574–84. doi:10.1056/NEJMcps050929. PMID 16221780.
  6. ↑ Kluckow M (2011). "Functional echocardiography in assessment of the cardiovascular system in asphyxiated neonates". J Pediatr. 158 (2 Suppl): e13–8. doi:10.1016/j.jpeds.2010.11.007. PMID 21238700.
  7. ↑ Sarnat HB (2008). "Disorders of segmentation of the neural tube: Chiari malformations". Handb Clin Neurol. 87: 89–103. doi:10.1016/S0072-9752(07)87006-0. PMID 18809020.
  8. ↑ Marin-Padilla M, Marin-Padilla TM (1981). "Morphogenesis of experimentally induced Arnold--Chiari malformation". J Neurol Sci. 50 (1): 29–55. PMID 7229658.
  9. ↑ Gilbert JN, Jones KL, Rorke LB, Chernoff GF, James HE (1986). "Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects". Neurosurgery. 18 (5): 559–64. PMID 3714003.
  10. ↑ Kolb SJ, Kissel JT (2015). "Spinal Muscular Atrophy". Neurol Clin. 33 (4): 831–46. doi:10.1016/j.ncl.2015.07.004. PMC 4628728. PMID 26515624.
  11. ↑ Darras BT (2015). "Spinal muscular atrophies". Pediatr Clin North Am. 62 (3): 743–66. doi:10.1016/j.pcl.2015.03.010. PMID 26022173.
  12. ↑ Mercuri E, Bertini E, Iannaccone ST (2012). "Childhood spinal muscular atrophy: controversies and challenges". Lancet Neurol. 11 (5): 443–52. doi:10.1016/S1474-4422(12)70061-3. PMID 22516079.
  13. ↑ Anandan C, Khuder SA, Koffman BM (2017). "Prevalence of autonomic dysfunction in hospitalized patients with Guillain-Barré syndrome". Muscle Nerve. 56 (2): 331–333. doi:10.1002/mus.25551. PMID 28039863.
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