Pediatric Pulmonary Hypoplasia Clinical Presentation

  • Author: Terry W Chin, MD, PhD; Chief Editor: Michael R Bye, MD   more...
 
Updated: Mar 5, 2012
 

History

In patients with pulmonary hypoplasia, the clinical profile and the time of presentation vary depending on the extent of hypoplasia and other anomalies.[9]

The history may include poor fetal movement or amniotic fluid leakage and oligohydramnios.[10] The neonate may be asymptomatic or may present with severe respiratory distress or apnea that requires extensive ventilatory support. In older children, dyspnea and cyanosis may be present upon exertion, or a history of repeated respiratory infections may be noted.

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Physical

The external chest may appear normal or may be small and bell shaped, with or without scoliosis. A mediastinal shift is observed toward the involved side, and dullness upon percussion is heard over the displaced heart. In right-sided hypoplasia, the heart is displaced to the right, which may lead to a mistaken diagnosis of dextrocardia. Breath sounds may be decreased or absent on the side of hypoplasia, especially over the bases and axilla.

Pneumothorax, spontaneous or associated with mechanical ventilation, may occur. Compression deformities due to prolonged oligohydramnios, contractures, and arthrogryposis may be present. The Potter facies (hypertelorism, epicanthus, retrognathia, depressed nasal bridge, low set ears) suggest lung hypoplasia caused by the associated renal defects.

When the etiology of the hypoplasia is a neuromuscular disease, the patient may have myopathic facies, with a V-shaped mouth, muscle weakness, and growth retardation.

Abdominal masses, such as cystic renal diseases and an enlarged bladder, must be sought. Associated anomalies of the cardiovascular, GI (eg, tracheoesophageal fistula, imperforate anus, communicating bronchopulmonary foregut malformation), and genitourinary systems, as well as skeletal anomalies of the vertebrae, thoracic cage, and upper limbs, may be found upon examination.

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Causes

Pulmonary hypoplasia may be primary, but it is usually secondary, manifested by small fetal thoracic volume caused by compression in the hemithorax due to structures such as abdominal contents in congenital diaphragmatic hernia (CDH) or congenital anomalies such as congenital adenomatoid malformation (CAM) or cysts.

  • The cause of primary pulmonary hypoplasia has not been identified. However, experimental models suggest deficiencies in certain transcription factors (eg, TTF-1, GATA factors, hepatocyte nuclear factor HNF3b10) or growth factors (eg, epidermal growth factor and its receptor, EGFR; mitogen-activated protein [MAP] kinase, connective tissue growth factor or CTGF[11] ) can result in disordered lung growth.
  • Causes of secondary pulmonary hypoplasia include the following:
    • Small fetal thoracic volume
    • Prolonged oligohydramnios
      • Fetal renal agenesis
      • Urinary tract obstruction
      • Bilateral renal dysplasia
      • Bilateral cystic kidneys
      • Prolonged rupture of membranes
    • Early rupture of membranes
    • More severe oligohydramnios (amniotic fluid index < 4)
    • Longer latent period before delivery
    • Decreased fetal breathing
      • CNS lesions
      • Lesions of the spinal cord, brain stem, and phrenic nerve
      • Neuromuscular diseases (eg, myotonic dystrophy, spinal muscular atrophy)
      • Arthrogryposis multiplex congenital
      • Maternal depressant drugs
    • Congenital heart diseases with poor pulmonary blood flow
      • Tetralogy of Fallot
      • Hypoplastic right heart
      • Pulmonary artery hypoplasia
      • Scimitar syndrome causing a unilateral right-sided pulmonary hypoplasia
      • Trisomies 18, 13, and 21
  • The role of retinoic acid and antioxidants in pulmonary hypoplasia has been extensively studied. Despite encouraging in vitro work, supplementation with vitamin A has not reduced pulmonary hypoplasia.
  • Pressure appears to affect fetal lung growth. Specifically, airway distension may affect various developmental and signaling pathways such as receptor tyrosine kinase growth factors, homeobox genes, transcription factors, retinoid signaling, and oxidation reduction. Experimentally, tracheal occlusion in fetal animals induces lung growth. These encouraging observations in various animal models have led to application to human fetuses with CDH. A US trial was stopped early because the data monitoring board found no difference in the survival rate compared with standard therapy. However, a European trial is currently continuing with promising preliminary results.[12]
  • The detrimental effect of compression of the lung by other tissue such as herniation of abdominal viscera in the thorax in CHD is further suggested by a case report of bilateral CDH with gastroschisis.[13] Their newborn was born without pulmonary hypertension and had a favorable outcome.
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Contributor Information and Disclosures
Author

Terry W Chin, MD, PhD  Associate Director, Pediatric Allergy/Immunology/Pulmonology, Miller Children's Hospital, Long Beach Memorial Medical Center; Associate Professor, Department of Pediatrics, University of California, Irvine, School of Medicine

Terry W Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Thoracic Society, California Thoracic Society, Clinical Immunology Society, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Girija Natarajan, MD  Assistant Professor, Division of Neonatology, Children's Hospital of Michigan & Wayne State University

Girija Natarajan, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ibrahim Abdulhamid, MD  Associate Professor of Pediatrics, Wayne State University School of Medicine; Director of Pediatric Pulmonary Medicine, Clinical Director of Pediatric Sleep Laboratory, Children's Hospital of Michigan

Ibrahim Abdulhamid, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Sleep Medicine, and American Thoracic Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Susanna A McColley, MD  Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Director of Cystic Fibrosis Center, Head, Division of Pulmonary Medicine, Children's Memorial Medical Center of Chicago

Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, and American Thoracic Society

Disclosure: Genentech Honoraria Speaking and teaching; Genentech Honoraria Consulting; Boston Scientific Consulting fee Consulting; Gilead Honoraria Speaking and teaching; Caremark Consulting fee Consulting; Vertex Pharmaceuticals Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Heidi Connolly, MD  Associate Professor of Pediatrics and Psychiatry, University of Rochester School of Medicine and Dentistry; Director, Pediatric Sleep Medicine Services, Strong Sleep Disorders Center

Heidi Connolly, MD is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, and Society of Critical Care Medicine

Disclosure: Nothing to disclose.

Mary E Cataletto, MD  Director of Children's Sleep Services, Winthrop Sleep Disorders Center, Mineola, NY; Professor of Clinical Pediatrics, State University of New York at Stony Brook, Stony Brook, NY

Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians

Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD  Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons; Attending Physician, Pediatric Pulmonary Medicine, Morgan Stanley Children's Hospital of New York Presbyterian, Columbia University Medical Center

Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the previous contributions of Yazan Said, MD, to the writing and development of this chapter.

References

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Chest radiograph of a newborn with primary pulmonary hypoplasia of the right lung showing shift of the mediastinum to the right hemithorax.
CT scan of the same patient (a newborn with primary pulmonary hypoplasia of the right lung) showing absence of the right lung. Note branching of the left lower lobe bronchus (horizontal arrow) and absence of airways in the right side (vertical arrow).
A posteroanterior radiograph of a 3-month-old infant with primary pulmonary hypoplasia of the right lung.
Lateral view of the same patient (a 3-month-old infant with primary pulmonary hypoplasia of the right lung) showing one dome of the diaphragm.
Bronchogram of the same patient (a 3-month-old infant with primary pulmonary hypoplasia of the right lung) showing absence of the airways in the right side and presence of the left main bronchus and its branches.
A chest radiograph of a 14-year-old child with primary pulmonary hypoplasia of the right side causing secondary scoliosis.
A chest radiograph of a newborn with achondroplasia and small chest causing hypoplasia of both lungs.
A chest radiograph of a newborn with diaphragmatic hernia in the right hemithorax shortly after birth.
CT scan of the same child (a newborn with diaphragmatic hernia in the right hemithorax shortly after birth) showing the presence of abdominal contents in the right hemithorax. Note the presence of the left lower bronchus and its main branches (horizontal arrow) and absence of the right lower lobe bronchus. The liver in the right hemithorax is indicated by the upper arrow.
A chest radiograph of a 10-month-old child after repair of a right diaphragmatic hernia showing loss of lung volume in the right hemithorax.
MRI of the same patient (a 10-month-old child after repair of a right diaphragmatic hernia) showing loss of right lung volume and smaller right pulmonary artery than the left pulmonary artery (arrow).
 
 
 
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