Case 2
A full-term male with unremarkable pregnancy and birth histories was
diagnosed with failure to thrive at his 2-week well child check
prompting hospital admission (Figure 1B). Echocardiogram was
unremarkable. Infectious workup was remarkable for nonspecific chest
radiograph findings. A video fluoroscopic swallow study noted
incoordination, and nasogastric feeds were initiated. He desaturated
with sleep and was discharged with nasal cannula oxygen.
He was readmitted at 3.5 months for fever, emesis, increased work of
breathing, and increased oxygen requirement. Chest CT revealed diffuse
ground-glass opacities and right sided lobar cystic structures (Figure
2C). Genetic testing revealed a novel, de novo SFTPC variant:
c.289G>T;p.Gly97Cys that is not present in adult
databases(3, 4), affects a conserved amino acid within the BRICHOS
domain, and is predicted deleterious(5, 6).
His respiratory status continued to decline with multiple
hospitalizations, requiring maximal respiratory support of NIV. He
discharged home at 11 months with nasal cannula oxygen while awake and
NIV 15/7 with oxygen bled-in for sleep. Discharge medications included
prednisolone 9 mg/kg weekly, azithromycin 10 mg/kg three times per week,
and hydroxychloroquine 7mg/kg daily via gastrostomy tube. Growth and
development continue to be typical for age. NIV was discontinued at 21
months, and oxygen was discontinued at 2 years. He tolerated respiratory
syncytial virus infection without hospitalization or oxygen. At 3 years,
he remains on azithromycin and hydroxychloroquine and is normoxic while
comfortably breathing room air.