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* [[PHOX2B|Molecular testing      for PHOX2B            mutations]]                                   
* [[PHOX2B|Molecular testing      for PHOX2B            mutations]]                                   
!
!
* Hirschsprung          disease                
* [[Hirschsprung's disease|Hirschsprung          disease]]                                       
* Neural crest           tumors                
* [[Neural crest cell|Neural crest             tumors]]                                       
* Box-shaped face                
* Box-shaped face                        
* Meiosis                
* [[Meiosis]]                                     
* Strabismus                
* [[Strabismus]]                             
|-
|-
![[Asphyxia]]
![[Asphyxia]]
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!Normal
!Normal
!
!
* The fetal                  biophysical profile              score (BPS)            shows loss of        accelerations of      the fetal heart        rate, decreased      body movement,    breathing,              hypotonia and        decreased              amniotic fluid        volume                  
* The fetal                  [[Biophysical profile|biophysical profile              score (BPS)]]             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 (RDS)    
* [[Acute respiratory distress syndrome|Acute respiratory            distress                          syndrome (RDS)]]               
* Meconium             aspiration               syndrome (MAS)  
* [[Meconium aspiration syndrome|Meconium              aspiration                syndrome (MAS)]]           
* Necrotizing            enterocolitis            
* [[Necrotizing            enterocolitis]]                           
|-
|-
![[Arnold-Chiari malformation|Chiari II malformation (Arnold-Chiari)]]
![[Arnold-Chiari malformation|Chiari II malformation (Arnold-Chiari)]]
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![[MRI|MRI Brain]]
![[MRI|MRI Brain]]
!
!
* Myelomeningocele
* [[Myelomeningocele]]
* Hydrocephalus    
* [[Hydrocephalus]]               
|-
|-
![[Spinal muscular atrophy]]
![[Spinal muscular atrophy]]
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![[Genetic testing|Molecular genetic testing]]  by detection of [[homozygous]] [[Deletion (genetics)|deletions]] of [[exons]] 7 of the [[SMN1|SMN1 gene]]
![[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            
* Progressive             [[muscle weakness]]          and [[atrophy]]                         
|-
|-
![[Guillain-Barré syndrome]]
![[Guillain-Barré syndrome]]
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* [[Nerve conduction studies|Nerve conduction studies (NCS)]] and [[EMG|needle electromyography (EMG)]]
* [[Nerve conduction studies|Nerve conduction studies (NCS)]] and [[EMG|needle electromyography (EMG)]]
!
!
* Preceded by mild respiratory or GIT infection
* Preceded by mild     [[respiratory]] or [[Gastrointestinal tract|GIT     infection]]                 
* Ascending fashion of weakness
* Ascending fashion     of [[weakness]]           
|-
|-
![[Phrenic nerve paralysis|Phrenic nerve injury]]
![[Phrenic nerve paralysis|Phrenic nerve injury]]
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* Fluoroscopic              "sniff" test                ([[Thoracic diaphragm|diaphragmatic]]              movement is            observed                  fluoroscopically      while the patient    sniffs forcefully)                                       
* Fluoroscopic              "sniff" test                ([[Thoracic diaphragm|diaphragmatic]]              movement is            observed                  fluoroscopically      while the patient    sniffs forcefully)                                       
!
!
* Respiratory           insufficiency                  
* [[Respiratory system|Respiratory]]            insufficiency                                  
|-
|-
![[Myasthenia gravis]]
![[Myasthenia gravis]]
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* Anti–[[acetylcholine  receptor]] [[antibody  test]]                           
* Anti–[[acetylcholine  receptor]] [[antibody  test]]                           
!
!
* Ptosis                    
* [[Ptosis]]                                           
* Diplopia                
* [[Diplopia]]                                           
* Fatigue                
* [[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>
![[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>
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* [[Genetic testing]] for [[Dystrophin|mutation of the        dystrophin gene          (DMD)]]                       
* [[Genetic testing]] for [[Dystrophin|mutation of the        dystrophin gene          (DMD)]]                       
!
!
* Waddling, wide-        based gait                
* Waddling, wide-        based [[gait]]                              
* Gower sign                
* [[Gowers' sign|Gower sign]]                             
|-
|-
![[Pneumonia]]
![[Pneumonia]]
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!Normal
!Normal
!Normal
!Normal
!Productive cough
![[Productive cough]]
|-
|-
![[Aspiration pneumonia|Aspiration]]
![[Aspiration pneumonia|Aspiration]]
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![[Bronchoscopy]]
![[Bronchoscopy]]
!
!
* Choking                
* [[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>
![[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>
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![[Polysomnography]]
![[Polysomnography]]
!
!
* Loud snoring
* [[Snoring|Loud snoring]]           


* Depression          
* [[Depression]]                         
* Hypertension        
* [[Hypertension]]                   
* Coronary artery        disease                
* [[Coronary heart disease|Coronary artery        disease]]                                       
|-
|-
!Pulmonary hypoplasia
!Pulmonary hypoplasia
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!_
!_
!
!
* Myopathic facies  
* [[Myopathic|Myopathic facies]]             
|-
|-
![[Metabolic alkalosis]]
![[Metabolic alkalosis]]
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!_
!_
!
!
* Hypokalemia      
* [[Hypokalemia]]                 
|-
|-
![[Sepsis]]
![[Sepsis]]
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![[SIRS|SIRS criteria]]
![[SIRS|SIRS criteria]]
!
!
* Chills                    
* [[Chills]]                                           
* Confusion            
* [[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>
!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>
Line 401: Line 401:
!_
!_
!
!
* Hypothalamic endocrine manifestations
* [[Hypothalamus|Hypothalamic]]            [[Endocrine system|endocrine]]                  manifestations          
* Tumors of neural crest origin
* [[Tumors]] of [[Neural crest cell|neural crest origin]]           
|}
|}


Revision as of 20:18, 23 February 2018

1. SOB 2. Chest pain 3. Cough 4. Cyanosis

Tachypnea

Bradypnea

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 - + + - +/- + + +/- +/-
  • Normal
 ↓O2, ↑CO2 Normal
Asphyxia - + +/- - +/- + + +/- +/- ↓O2, ↑CO2 Normal
Chiari II malformation (Arnold-Chiari) - + + - + + - - - Normal _ _ MRI Brain
Spinal muscular atrophy - + + - +/- + + - - _ _ _ Molecular genetic testing  by detection of homozygous deletions of exons 7 of the SMN1 gene
Guillain-Barré syndrome - + +/- - + +/- - - - ↓O2, ↑CO2 ↓FEV1

↓FVC

↓TLC

Phrenic nerve injury +/- + + +/- - +/- - - -
  • Normal
 Normal ↓Vt, ↑RV

(anatomical)

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

↓TLC

Muscular dystrophy[1][2] +/- + +/- - +/- +/- - +/- +/- ↓O2, ↑CO2 ↓FVC, ↓PEF
Pneumonia + + +/- + +/- +/- - - - Normal Lobar consolidation Normal Normal Productive cough
Aspiration +/- + +/- + +/- +/- + - - Normal ↓Vt, ↑RV Bronchoscopy
Obstructive sleep apnea[3] + + +/- - +/- + +/- +/- +/- ↓O2, ↑CO2 ↑FRC Polysomnography
Pulmonary hypoplasia - + +/- - +/- +/- + - - ↓O2, ↑CO2 ↑RV _
Metabolic alkalosis - + +/- - +/- +/- - +/- +/- _ ↓O2, ↑CO2 _ _ _
Sepsis - + - + +/- +/- - - - Normal ↓O2, ↑CO2 Normal Normal SIRS criteria
ROHHAD[4][5][6] - + +/- - +/- + +/- - - ↓O2, ↑CO2 ↓Vt _

Obstructive lung Diseases

Restrictive lung Diseases

Wheeze

  1. ↑ Takasugi T, Ishihara T, Kawamura J, Sasaki K, Toyoda T, Oosumi M; et al. (1995). "[Blood gas changes in Duchenne type muscular dystrophy]". Nihon Kyobu Shikkan Gakkai Zasshi. 33 (1): 17–22. PMID 7699962.
  2. ↑ Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J; et al. (2015). "Characterization of pulmonary function in Duchenne Muscular Dystrophy". Pediatr Pulmonol. 50 (5): 487–94. doi:10.1002/ppul.23172. PMC 4402127. PMID 25755201.
  3. ↑ Abdeyrim A, Zhang Y, Li N, Zhao M, Wang Y, Yao X; et al. (2015). "Impact of obstructive sleep apnea on lung volumes and mechanical properties of the respiratory system in overweight and obese individuals". BMC Pulm Med. 15: 76. doi:10.1186/s12890-015-0063-6. PMC 4513967. PMID 26209328.
  4. ↑ duRivage SK, Winter RJ, Brouillette RT, Hunt CE, Noah Z (1985). "Idiopathic hypothalamic dysfunction and impaired control of breathing". Pediatrics. 75 (5): 896–8. PMID 3991276.
  5. ↑ FISHMAN LS, SAMSON JH, SPERLING DR (1965). "PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE)". Am J Dis Child. 110: 155–61. PMID 14320765.
  6. ↑ Paz-Priel I, Cooke DW, Chen AR (2011). "Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome". J Pediatr. 158 (2): 337–9. doi:10.1016/j.jpeds.2010.07.006. PMC 3976575. PMID 20727534.
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