Core Content: Emergency Management of Congenital Anomalies

  • Know the anatomy and pathophysiology relevant to emergency management of congenital anomalies
  • Know the indications and contraindications for emergency management of congenital anomalies
  • Plan the key steps and know the potential pitfalls in the emergency management of congenital anomalies
  • Recognize the complications associated with the emergency management of congenital anomalies

Respiratory Emergencies

Apnea

Apnea is the cessation of airflow for at least 20 seconds or for any duration if central cyanosis is present.1 The primary risk factor is prematurity. There are three types of apnea:

  1. Central – Inspiratory efforts are absent
  2. Obstructive – Inspiratory efforts exist but airway obstruction is present
  3. Mixed – Both central and obstructive
Table.  Causes of Apnea in the Newborn
Neurologic

Seizure

Hydrocephalus

Meningitis/encephalitis

Intracranial injury: hemorrhage, edema

Prematurity
Respiratory

Bronchiolitis: respiratory syncytial virus, influenza, parainfluenza, enterovirus, rhinovirus, adenovirus

Bronchopulmonary dysplasia (prematurity)

Pertussis

Pneumonia

Congenital lung malformations: congenital diaphragmatic hernia, cystic adenomatoid malformations

Spontaneous pneumothorax
Cardiac

Congenital heart disease

Arrhythmias: tachyarrhythmia, bradyarrhythmia
Gastrointestinal Gastroesophageal reflux disease aspiration
Hematologic Anemia
Infectious Sepsis
Metabolic

Hypoglycemia

Hyponatremia


An infant presenting to the ED with a history of apnea should be placed on a cardiopulmonary monitor. Testing includes bedside glucose for hypoglycemia, electrolytes for hyponatremia, CBC for anemia, EKG for arrhythmias, and chest X-ray for pneumonia, congenital malformations, or pneumothorax. CT of the head is indicated if head trauma or intracranial process such as hydrocephalus is suspected. Viral respiratory antigen and pertussis testing may be indicated when there is a history of a cough. If sepsis is suspected, a full sepsis workup is indicated with blood, urine, and CSF analysis and cultures. Maternal history of herpes infection, vesicular skin lesions, or seizures warrants viral cultures of lesions and CSF. Management. The infant who is apneic in the ED requires immediate stimulation and resuscitation with bag valve mask oxygenation and possible intubation if it is prolonged or recurrent. A heart rate < 60 bpm prompts the initiation of cardiopulmonary resuscitation. The overview of treatment of respiratory emergencies is discussed in this section. Admission for monitoring and further diagnostic testing is indicated for an infant who presents with apnea.

CME Question

An infant presents to the emergency department via EMS. There is a history from the caretaker that the infant stopped breathing. The diagnosis of apnea may be made based on which of the following?

  1. Cessation of airflow for at least 20 seconds.
  2. Cessation of airflow for any duration if central cyanosis is present.
  3. A and B.

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Sudden Unexpected Infant Death and Sudden Infant Death Syndrome

Sudden unexpected infant death (SUID) refers to all unexpected infant deaths and includes deaths due to sudden infant death syndrome (SIDS). SIDS is defined as the sudden death of an infant under 1 year of age, which remains unexplained after a detailed investigation of the case. SIDS is the leading cause of death in infants 1 month to 1 year of age in the United States. Explained causes of sudden infant death elicited by the medical examiner include child abuse, suffocation, and metabolic diseases. Death scene investigation, clinical history, and medical examiner findings are utilized to determine the cause of death.

CME Question

An infant presents to the ED via EMS. The mother found the patient unresponsive in the crib. True statements regarding Sudden Infant Death Syndrome (SIDS) include:

  1. Sudden infant death syndrome (SIDS) is a leading cause of death in infants 1 month to 1 year in the U.S.
  2. SIDS is the sudden death of an infant under 1 year, which remains unexplained after a detailed investigation of the case.
  3. The cause of death is determined by death scene investigation, clinical history and medical examiner findings.
  4. Explained causes of sudden death elicited by the medical examiner include child abuse, suffocation and inborn errors of metabolism.
  5. All of the above.

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Acute Life Threatening Event

An apparent life-threatening event (ALTE) is an acute change in an infant’s appearance, breathing, or behavior that is frightening to the caregiver. ALTE is a term established at a consensus conference in 1986.1,2 It includes one or all of the following features:

Apnea – no respiratory effort or difficulty breathing

  • Color change – cyanosis, pallor, or less often plethoric
  • Change in muscle tone – often limp but sometimes rigid
  • Choking or gagging

The incidence of ALTE is 0.05-1%. Risk factors include history of apnea, recent respiratory illness, feeding problems, infants younger than 10 weeks of age, prematurity, low birth weight, maternal smoking or drug use, prone sleeping, and bed sharing.

Common underlying etiologies of ALTEs include gastroesophageal reflux, respiratory infection, seizures, non-accidental trauma, cardiac lesions or arrhythmias, overdose, inborn errors of metabolism, hypoglycemia, and sepsis.

Observation for cardiorespiratory monitoring is usually beneficial for an infant presenting with an ALTE and any of the following:

  • Event witnessed in the ED, toxic appearance, recurrent vomiting, respiratory distress
  • History of prior ALTE or family history of ALTE or SIDS
  • Evidence of trauma
  • Presence of a syndrome or dysmorphism
  • History of significant respiratory compromise, requiring resuscitation.

Initial workup in the ED is usually tailored to each individual presentation and may include CBC, electrolytes, glucose, urinalysis, calcium, magnesium, urine toxicology, ethanol levels, chest X-ray, EKG, and viral respiratory antigen and pertussis testing.

On admission, further testing often includes evaluation for gastroesophageal reflux disease (GERD), child abuse, seizure, metabolic disorders, cardiac disease, or use of over-the-counter or other drugs. Recommendations prior to discharge from inpatient hospitalization include CPR training for the parents and education regarding maintaining a safe home environment such as supine sleeping position and avoiding tobacco exposure. The use of home apnea monitoring is controversial but oftentimes considered, especially in children with a history of prematurity or cardiopulmonary disease. The risk of subsequent death in infants with ALTE is less than 1 %.

National Guideline/Academic Resource
http://www.rch.org.au/clinicalguide/guideline_index/Apparent_Life_Threatening_Event_ALTE/

CME Question

EMS transports a patient to the Emergency department. The mother stated that the infant stopped breathing for a few seconds and became limp and pale. The diagnosis of an acute life-threatening event (ALTE) is considered. Which of the following are included in the definition of ALTE?

  1. Apnea with no inspiratory effort or difficulty breathing.
  2. Color change.
  3. Change in muscle tone.
  4. Choking or gagging.
  5. All of the above.

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Pneumonia

Pneumonia, an infection and inflammation of the lungs, may be caused by bacterial, viral or, atypical organisms.

Table. Causes of Pneumonia
Bacterial causes group B strep, S. aureus, listeria, E. coli, pertussis, klebsiella, proteus, pseudomonas, group A strep, Neiseria meningitidis
Viral causes RSV, influenza, parainfluenza, human metapneumovirus, herpes virus, CMV, HIV
Atypical causes Chlamydia, mycoplasma, mycobacteria,
Fungal causes Candida

The infant may present with cough, tachypnea, respiratory distress, hypoxia, apnea, hyper- or hypothermia, and wheezing. Associated findings are poor feeding and irritability. A chest X-ray may reveal opacification, periihilar infiltrates, air bronchograms, or pneumatocoeles. Staphylococcal infiltrates may appear as a” round pneumonia” and have associated pleural effusions and pneumatocoeles.3 (See Figures: Round Pneumonia from S. pneumonia and Pneumonia) Blood culture may isolate the offending organism, but are not routinely recommended. Complete blood count may reveal increased white blood cell count with a predominance of neutrophils in bacterial infections, or decreased WBC and predominance of lymphocytes in viral pneumonias. A respiratory panel PCR test, usually including adenovirus, coronaviruses, influenza A and B viruses, metapneumovirus, parainfluenza virus, respiratory syncytial virus (RSV), rhinovirus, Bordatella pertussis, Chlamydia pneumonia, and Mycoplasma pneumonia. may reveal the offending organism.

Figure: Round Pneumonia from S. pneumonia
Round Pneumonia from S. pneumonia
 
Figure: Pneumonia
Pneumonia
 

Chlamydial pneumonia occurs in 5-30% of infected neonates with about 50% of these neonates having a history of conjunctivitis. In general, the infants present between 4-12 weeks of age afebrile with a staccato cough, nasal congestion, and tachypnea. The CBC is typically normal with an eosinophilia. Chest X-ray shows hyperinflation with bilateral, symmetrical interstitial infiltrates.

The management of pneumonia includes oxygen supplementation for hypoxia. The Infectious Diseases Society of America recommends narrow-spectrum antibiotics for uncomplicated bacterial pneumonia in otherwise healthy children. Choices include ampicillin, penicillin, and amoxicillin. In children older than 5 years, a macrolide (azithromycin) should be added for atypical coverage. A third-generation cephalosporin such as cefotaxime may be considerd for serious, life-threatening illnesses and in children with significant comorbidities. Vancomycin or clindamycin (depending on local susceptibilities) should be added if MRSA infection is suspected. Erythromycin is recommended for C. pneumonia and azithromycin should be administered if pertussis is suspected or confirmed.

Admission is recommended in the neonatal group due to risk of sepsis, apnea, poor feeding, hypoxia, and increased work of breathing.

National Guideline/Academic Resource
IDSA practice guideline for pneumonia in infants and children

CME Question

A 4-week-old infant presents with fever, tachypnea, and a right upper lobe infiltrate on chest X-ray. Which of the following statements is true regarding the management of neonatal pneumonia?

  1. Blood culture, intravenous ceftriaxone and outpatient therapy with amoxicillin.
  2. Admission is recommended in the neonatal group. There is a risk of sepsis, apnea, hypoxia, and respiratory distress.
  3. Admission is only for hypoxia.

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Round Pneumonia from Staphylococcal aureus
Round Pneumonia from Staphylococcal aureus

 

Pertussis

Pertussis is a pulmonary infection caused by an aerobic bacteria, B. pertussis. Most of the morbidity and mortality associated with pertussis is limited to very young infants; infants < 2 months of age have a case fatality rate of approximately 1%, and infants aged 2-11 months have a fatality rate of 0.5%.

The clinical features vary with age, immunization status, and the presence of comorbid conditions. There are three main stages: the catarrhal, paroxysmal, and convalescent stages. It is most contagious in the catarrhal stage when the symptoms are those of an upper respiratory infection. The paroxysmal stage presents with repeated “fits” of coughing followed by an inspiratory “whoop” in some individuals. The paroxysmal stage may last 2-6 weeks. During the convalescent stage there is clinical improvement. The presentation may be atypical in very young infants, who are usually unimmunized or only partially immunized. These infants often lack the paroxysmal cough or whoop, and may present with gagging, gasping, ALTEs, or seizures. Other factors that increase the risk of complications include history of prematurity and existing cardiac, pulmonary, neurologic, or muscular diseases.

Maintaining a high suspicion for pertussis is very important. Historical clues to the diagnosis may include a prolonged cough, paroxysms of cough, post-tussive emesis, and contact with a person with a prolonged cough. Signs and symptoms include feeding intolerance, emesis, dehydration, breathing difficulties, cyanosis, and apnea. Examination of the infant may reveal tachypnea, respiratory distress, abnormal lung sounds, and cyanosis.

The diagnosis is confirmed with a positive culture or PCR for B. pertussis. The chest X-ray may be normal or may reveal peribronchial cuffing, interstitial edema, atelectasis, or a perihilar opacity with a “shaggy” right heart border. A CBC may be normal or may demonstrate leukocytosis (white blood cell count ranging from 15,000-100,000) with an absolute lymphocytosis. Infants with leukocytosis have a worse prognosis.

The use of culture and PCR is of greatest utility in the first 3 weeks of cough symptoms. The organism has fastidious growth requirements, and the sensitivity of cultures is between 15-45%. A negative culture does not exclude pertussis. The sensitivity of diagnostic testing decreases after 3 weeks of cough if the child has been treated with antibiotics and if the child has previously been immunized. The specificity for culture is 100%. PCR has a sensitivity of 70-99% with a specificity of 86-100%. There are false positives due to DNA contamination. Some recommend culture and PCR testing in suspected cases.

The American Academy of Pediatrics recommends azithromycin (10 mg/kg/dose x 5 days), rather than erythromycin for the treatment of pertussis in infants. This is due to the potential association of the latter with infantile hypertrophic pyloric stenosis. Treatment is recommended prior to culture or PCR reports in infants suspected of having the infection. Treatment during the early (catarrhal) phase decreases the duration of symptoms. Initiating treatment later in the disease course probably does not shorten the duration of symptoms but may decrease spread of the disease.

Infants under 3 months should be admitted to the hospital for cardiopulmonary monitoring. Infants between 3-6 months may be admitted if ill-appearing or with significant comorbidities. Supportive care, including IV fluids, a nasogastric feeding tube for hydration, and supplemental oxygen for hypoxias, is the mainstay of management. The infant should be placed on droplet precautions.4

Prophylaxis is recommended for all close contacts of the index case, including household and childcare contacts regardless of immunization status, especially for those who have immunodeficiency or heart or lung disease.5

National Guideline/Academic Resource
http://www.cdc.gov/pertussis/clinical/index.html

CME Question

A 1-month-old infant presents with a cough for 2 weeks. The siblings are not immunized and have had cough and upper respiratory symptoms for about 6 weeks. You suspect pertussis. True statements regarding pertussis are:

  1. The catarrhal stage is the most contagious.
  2. The treatment for infants includes Azithromycin 19 mg/kg/day x 5 days.
  3. Prophylaxis is recommended for close contacts that are immunized against pertussis.
  4. All of the above.

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Table: Neonatal Respiratory Emergencies
Disease Diagnostic Features Management

Apnea/ALTE

History of cessation of respiration
> 20 seconds with or without cyanosis. Work up includes EKG, CXR, CBC, CMP

Sepsis work up if suspected. Inpatient testing includes EEG and upper GI series.

Maintain airway. Provide oxygen and intubation if needed. Antibiotics if sepsis. Admission for inpatient monitoring and further workup.

Bronchopulmonary Dysplasia (BPD)

Usually history of prematurity or mechanical ventilation in neonatal period. Exacerbations usually present to the ED with increased work of breathing, oxygen requirements, wheezing, and rales. CXR: bilateral infiltrates/atelectasis. Comparison with old films important. CBC and blood culture if febrile. Electrolytes to monitor sodium, potassium and calcium levels.

Airway management.
Oxygen if hypoxic. Bronchodilators such as albuterol.
Steroids oral or intravenous.
Lasix 1 mg/kg if pulmonary edema is suspected.

Pneumonia

Often present with cough, fever, tachypnea, increased work of breathing and rales on auscultation. Wheezing, hypoxia and apnea may occur. Organisms causing PNA include bacterial, viral, atypical fungal. CXR, CBC and blood culture. Consider a full sepsis work up as bacteremia may occur.

Airway management. Oxygen if hypoxic. Antibiotics IV: ampicillin and cefotaxime. Admit neonates with pneumonia.

Pertussis

Cough, often prolonged. Family member with chronic cough or older siblings with lack of immunizations. Pertussis culture or PCR testing. CXR: shaggy right heart border or normal. CBC may show leukocytosis.

Oxygen if hypoxic. Azithromycin 10 mg/kg/dose x 5 days. Post-exposure prophylaxis for close contacts with azithromycin or erythromycin. Admission required.

Choanal atresia

Respiratory distress soon after birth, cyanosis with feeds relieved by crying (if bilateral.) Unilateral type may present when infant develops a URI. Diagnosis confirmed by inability to pass NGT 5F or 8F.

Airway management. Place oral airway. LMA or ETT placement may be required. Admission and ENT consultation.

Pneumothoriax

Respiratory distress. Diminished breath sounds on affected side. Tracheal deviation and heart sounds muffled or displaced if tension pneumothorax. CXR:

Oxygen therapy. Needle decompression if symptomatic and definitive chest tube.

Congenital Diaphragmatic Hernia (CDH)

Respiratory distress, scaphoid abdomen, barrel shaped chest, diminished or absent breath sounds on affected side. Heart beat may be displaced. CXR: abdominal contents, air in the hemithorax.

Airway management. Oxygen if hypoxic NGT. Fluid resuscitation. Surgical consult.

Respiratory Emergencies References

  1. National Institutes of Health Consensus Development Conference on Infantile Apnea and Home Monitoring, Sept 29 to Oct 1, 1986. Pediatrics 1987; 79:292.
  2. Davies F, Gupta R. Apparent Life Threatening Events in infants presenting to an emergency department.Emerg Med J 2002;19:11-16.
  3. Gonzalez BE, Hulten KG, Dishop MK, et al. Pulmonary manifestations in children with invasive community acquired Staphylococcus aurues infection. Clin Infect Dis 2005; 41(5):583-590.
  4. American academy of pediatrics. (n.d.). Pertussis in Young Infants. Retrieved from http://www.aap-ca.org/clinical/pertussis/pertussis_in_young_infants.html
  5. CDC, MMWR. Recommended Antimicrobial Agents for the Treatment and Post exposure Prophylaxis of Pertussis. 2005 CDC Guidelines.2005;54-RR12:1-16.

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