1. Pediatric Interstitial Lung Disease
1_26_11

2. 3 month old girl Full term Mild laryngomalacia 2 days of mild cough
Retractions on exam
ROS: no weight gain in 1 month despite feeding well

3. PMHx:
Full term
Hospitalized at 2 weeks for laryngomalacia
Reflux
Failure to thrive
Meds:
Zantac
Social history: Lives with parents, grandmother
Family history: Indian. Parents are first cousins.

4. Admission exam: tachypneic Hospital course:
Progressive respiratory symptoms
ENT consulted. Bronch showed larygnomalacia but was otherwise normal
Over several days progressed to respiratory failure requiring intubation
Lung biopsy was eventually performed
Need for diagnosis as patient was deteriorating rapidly

5. Severe, diffuse interstitial disease

6. Additional Info Bronchoscopy:
BAL negative for infection, including Nocardia
Labs:
HIV negative
Quantitative Immunoglobulins are normal
T and B cell subsets are normal

7. Lipid within the alveolus

8. Location of pathology is key in childrens interstitial lung disease (CHILD)V
Alveolar sac A L
Focus on location of pathogology rather than the name
Allows you predict findings on X ray
Allows you predict the cause
allows
Basement membrane

9. Airway obstruction with neuroendocrine
cells1, fibrosis2 or lymph tissue3
Neuroendocrine hyperplasia of infancy
Bronchiolitis obliterans
Follicular bronchitis
Lipid in the
Alveolus4
4. Surfactant protein deficiency V
Fibroblast5
Lymphocytes6
Mesenchymal cells7
Alveolar sac A L
5. Usual interstitial pneumonitis
6. Lymphocytic initerstitial pneumonitis – think HIV
7. Cellular interstitial pneumonitis (pulmonary interstitial glycogenosis)

10. How is chILD characterized?
Diseases with increased interstitial cells
Usual interstitial pneumonia - Fibroblasts
Cellular interstitial pneumonitis/Pulmonary interstitial glycogen - mesenchymal cells
lymphoid interstitial pneumonitis LIP
Disease of the airway
Persistent tachypnea of infancy/neuroendocrine cell hyperplasia of infancy (NEHI)
Follicular bronchitis
Bronchocentric granulomatosis
Bronchiolitis obiterans
Lipid in the alveolus
Pulmonary alveolar proteinosis
Sufactant pathway mutations
Chronic pneumonitis of infancy

11. Chronic Pneumonitis of Infancy
Type II cell hyperplasia
Foam cells in the alveolus
Mutation in
SpB- severe, SpC- chronic and ABCA3- variable
Very poor prognosis
Not much works but hydroxychloroquine is your best shot

12. SP-B
ABCA3
SP-C AR AD
Loss of function
Dominant negative
PAP, DIP, fibrosis
PAP, CIP, PAP
CPI, DIP, NSIP,fibrosis
Absent lamellar bodies
normal lamellar bodies
Fatal NB
Variable prognosis
Chronic

13. Back to the patient: Started on 10 mg/kg/day of Hydroxycloroquine
Dramatic improvement within 2 days
Vent settings: (SIMV-PC)
Max support: 46/16 x 60, FiO2 100%
Weaned to 22/5 x 18, FiO2 30%.

14. Marked improvement
Most consistent with ABCA3 deficiency
Parents are related so an autosomal recessive mutation is more likely