The Chronic Child (Case 46)

Chapter 88 The Chronic Child (Case 46)



Danna Tauber, MD, MPH




Case


A 10-year-old girl with a diagnosis of spinal muscular atrophy type II presents to the emergency department (ED) with fatigue, weight loss, morning headache, and shortness of breath.




Differential Diagnosis











Congenital neuromuscular disorders Static encephalopathy/hypoxic ischemic encephalopathy
Metabolic disorders Bronchopulmonary dysplasia (BPD)/chronic lung disease


Speaking Intelligently


When I evaluate a child in chronic respiratory failure, I first think about the underlying disease process that led to the child’s current status. In a child who has progressive muscle weakness, the time course to respiratory failure can be protracted, and earlier interventions may help stave off impending respiratory failure. In cases of static encephalopathy, a child’s airway may be compromised, with an acute presentation and necessary emergent interventions, or the course may be more chronic with recurrent aspiration pneumonias leading to lung damage and eventual respiratory failure. The time course can vary, and earlier interventions can be helpful. In all cases, careful discussion with the child’s caretakers regarding treatment options is very important.



Patient Care



Clinical Thinking



• Is the child in imminent danger of respiratory arrest?

• What is the nature of the respiratory failure: airway obstruction versus parenchymal lung disease versus respiratory muscle weakness.


History



• Underlying medical conditions

• Chronicity of respiratory illness

• Recent fever or evidence of respiratory infection

• History of swallowing difficulty or history of emesis or feeding intolerance

• History of weight loss


Physical Examination



• Vital signs including weight

• Assessment of airway: Is there audible breathing, stridor, suprasternal retractions?

• Auscultation of breath sounds

• Evaluation of work of breathing: thoracoabdominal asynchrony, intercostal muscle activity

• Assessment of muscular tone, control of secretions, mental status


Tests for Consideration



• Arterial blood gas levels: To check for compensated respiratory acidosis $45

• Electrolyte levels: To check serum bicarbonate $115

• Pulmonary function testing: To evaluate for obstruction or restrictive breathing pattern $255

• Overnight polysomnogram: To check for upper airway obstruction versus centrally mediated hypoventilation without airway compromise or a mixed pattern with elements of obstruction and hypoventilation $450


Imaging Considerations


→ Chest radiograph $75


→ Videofluoroscopic swallow study $675


→ Laryngoscopy or bronchoscopy $2200




Clinical Entities: Medical Knowledge



















Congenital Neuromuscular Disorders
Pϕ Congenital neuromuscular disorders result in progressive muscle weakness, which eventually include the muscles of respiration. Respiratory involvement can begin in infancy, early childhood or, late adolescence. The respiratory insufficiency may initially present with retained secretions leading to atelectasis and infections. As muscle weakness progresses, impaired ventilation during sleep becomes an issue. With progression of weakness, swallowing can also become impaired, and the patient can be at risk for aspiration of food or liquids into the lung. Eventually daytime ventilation becomes impaired with worsening hypercapnia and hypoxemia.
TP Presentation depends on the age, the specific disease, and the extent of muscle degeneration. Infants with aggressive neuromuscular diseases can present with increased work of breathing or apnea. Older children with slowly progressive disease can present with recurrent respiratory infections.
Dx Diagnosis is made on initial presentation of muscle weakness with muscle biopsy and in some cases genetic testing. Respiratory insufficiency or failure is diagnosed with clinical findings and arterial blood gas evaluation, which will demonstrate hypercarbia and some degree of hypoxemia, the extent of which is determined by the degree of respiratory insufficiency.
Tx Early on, assisting the patient with airway secretion clearance can prevent atelectasis and infection. This includes manual chest physiotherapy, aerosol therapy, and cough assist devices. If the patient has evidence of nocturnal hypoventilation, then treatment with noninvasive mechanical ventilation (bilevel positive airway pressure [BiPAP]) can improve ventilation, quality of sleep, and even daytime level of functioning. Once ventilation has deteriorated permanently, the patient can transition to either noninvasive ventilation (sip ventilation [mouthpiece intermittent positive pressure ventilation] and BiPAP) or invasive ventilation via a tracheostomy tube. See Nelson Essentials 182.

















Metabolic Disorders
Pϕ Metabolic disorders include a large number of diseases with different etiologies. The final outcome is decreased energy production in the cells due to errors in metabolism. The impact on respiration comes from involvement of respiratory muscle cells and cells of the central nervous system.
TP There is not a typical presentation due to the large variety of disorders. Patients with the same disorder can present differently depending on which organ system is more involved. Feeding is frequently impacted, as is level of cognitive and muscle functioning. Impaired ventilation more or less follows the same progression as in the neuromuscular disorders.
Dx Diagnosis can be made on newborn genetic screening, muscle biopsy, and blood tests for specific metabolic markers.
Tx Treatment varies depending on the level of dysfunction. In patients with airway involvement, surgery to remove airway obstruction can be helpful as can placement of a tracheostomy tube. Airway clearance devices, noninvasive mechanical ventilation, and invasive mechanical ventilation can also be used depending on the level of impairment. See Nelson Essentials 51.

















Static Encephalopathy/Hypoxic-Ischemic Encephalopathy
Pϕ Static encephalopathy is irreversible, permanent brain damage that can result from multiple different causes. Examples include prolonged cardiac arrest, trauma, stroke, and infection. This can result in poor airway tone, swallowing dysfunction with aspiration, gastroesophageal reflux with or without aspiration, and impaired control of breathing.
TP Respiratory complications from static encephalopathy can present differently. Immediately after the injury the patient can require ventilatory support or stabilization of the airway. Years after the original injury, there can be partial or complete airway obstruction. Central or obstructive or mixed apnea may develop over time.
Dx Diagnosis of encephalopathy can be made with an electroencephalogram (EEG), magnetic resonance imaging (MRI), or computed tomography (CT) scan of the brain. For airway compromise, laryngoscopy and bronchoscopy can be helpful to determine the exact location and nature of the airway impingement. Overnight polysomnogram should be done to determine if there is obstructive or central apnea.
Tx Treatment is individualized and may includes tracheostomy tube placement, gastrostomy tube placement, noninvasive mechanical ventilation, invasive mechanical ventilation, and airway clearance devices. See Nelson Essentials 64.

















Bronchopulmonary Dysplasia/Chronic Lung Disease
Pϕ Bronchopulmonary dysplasia (BPD) results from either premature birth or term birth with the development of respiratory distress syndrome (RDS) and need for mechanical ventilation and supplemental oxygen therapy. BPD can vary in severity with the most severe cases requiring prolonged mechanical ventilation, including home ventilator support. The exact cause is likely multifactorial, including prematurity of the lung parenchyma, infection and inflammation, oxygen toxicity, and barotrauma from mechanical ventilation leading to lung injury and poor nutrition. Pathology findings include atelectasis, metaplasia, fibrosis, and overdistended alveoli.
TP Initial presentation of BPD is at birth with respiratory distress syndrome and hypoxemia. Once the infant has been diagnosed with BPD and discharged from the neonatal intensive care unit (NICU), he/she can present with respiratory infections, including respiratory syncytial virus (RSV) bronchiolitis, which in these infants can be very severe and present with apnea or respiratory distress and hypoxemia. Other presentations include an infant with BPD having a “BPD spell,” in which the infant has poor aeration and significant hypoxemia.
Dx Diagnosis of BPD is made if the infant required supplemental oxygen and/or mechanical ventilation for the first 28 days of life and continues to require supplemental oxygen at 36 weeks postmenstrual age. Severe BPD is defined as requiring greater than 30% supplemental oxygen or positive pressure ventilation at 36 weeks postmenstrual age. There is retained CO2 with a compensatory metabolic alkalosis.
Tx Treatment includes diuretic therapy if there is evidence of pulmonary edema and bronchodilators and systemic corticosteroids for bronchospasm; intubation with mechanical ventilation for the severe cases with marked CO2 retention and respiratory failure. See Nelson Essentials 61.
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Jul 18, 2016 | Posted by in PEDIATRICS | Comments Off on The Chronic Child (Case 46)

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