Pediatric Restrictive Diseases

Question 1

Neuroendocrine Hyperplasia of Infancy (NEHI)

Answer 1

• excessive neuroendocrine cell growth in distal airway (detect by staining for bombesin)
• hyperinflation, hypoxemia and crackles
• see ground glass in middle lobes especially
• usually grow out of it by 6 yo

Question 2

Congenital Pulmonary Lymphangiectasia

Answer 2

• distended lymph vessels block diffusion –> hypoxemia
• also have chylothorax (milky fluid of fat and lymphocytes b/n lung and wall)
• see septal thickening –> Kerley B lines
• usually excellent prognosis (may have short duration on vent but then improve)
• can be part of Noonan’s Syndrome (short stature and dysmorphic face)

Question 3

Surfactant Protein C Def

Answer 3

• protein normally involved in host defense (not protein B - needed for life) accumulates in lung –> diffusion impairment
• see ground glass on CT
• Tx = hydroxychloroquine

Question 4

DMD

Answer 4

• respiratory muscle weakness in 2nd decade of life
• dec FVC, dec TLC, dec peak flow
• lose ability to cough and nocturnal then diurnal respiratory failure so use non-invasive vent

Question 5

Jeune’s Syndrome (Asphyxiating Thoracic Dystrophy)

Answer 5

• form of dwarfism that leads to narrow, bell-shaped thorax

- use VEPTR (vertical, titanium struts that spread as kid grows and provide linear tension)

Question 6

When does scoliosis cause lung restriction?

Answer 6

Cobb angle > 50%