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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.