P454: Improvement in refractory bone pain with infliximab in an adolescent with Camurati-Engelmann disease

Diagnostic Workup: Brain MRI identified significant cortical dysplasia and cortical thickening with absence of normal sulcation of left hemisphere.EEG revealed status epilepticus on multiple occasions.Biochemical labs included plasma amino acids, urine organic acids, and an acylcarnitine profile.All were non-diagnostic.Newborn screening #1 was normal, though #2 was positive for congenital adrenal hyperplasia and congenital hypothyroidism.Genetic testing included a rapid proband-only genome sequence analysis.Positive results include a pathogenic variant in PTEN (c.388C>T), a likely pathogenic variant in WDR19 (c.3652dup) and 2 VUS in WDR19 (c.2365G>A and c.2671C>T).Secondary findings were declined by the family.