Propofol sedation is used more frequently in pediatric procedures because of its ability to provide varying sedation levels. The authors evaluated all outpatient pediatric procedures using propofol sedation over a 6-year period. All sedation was provided by pediatric intensivists at a single institution. In all, 4716 procedures were recorded during the study period; 15% of procedures were associated with minor complications, whereas only 0.1% of procedures were associated with major complications. Significantly more major complications associated with propofol occurred during bronchoscopy (P = .001). Propofol administered by a pediatric intensivist is a safe sedation technique in the pediatric outpatient setting.

A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on.

RATIONALE: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare condition caused by mutations in FOXP3 resulting in defective regulatory T-cells (T regs ). We report two siblings with clinical presentations suggestive of IPEX with a novel variant in FOXP3. METHODS:A 5-year-old male (proband) was evaluated for diarrhea since infancy, intermittent fevers and arthralgias. Fecal calprotectin was markedly elevated and a colonic biopsy revealed findings of nonspecific inflammatory colitis, responsive to high-dose steroids. Family history was notable for type 1 diabetes mellitus in a 14 year-old brother who was subsequently diagnosed with nonspecific inflammatory colitis. Targeted gene sequencing (Invitae, Illumina) was performed in the siblings and parents. FOXP3 expression was evaluated by flow cytometry in CD3 + CD4 + CD25 + T reg cells. In the proband, LRBA expression was assessed in monocytes, T, B and NK cells. Tr1 (CD3 + CD4 + CD45A -CD49b + LAG-3 -) and Tr1/Th3 (CD3 + CD4 + CD25 -CD127 + ) precursor cells were also evaluated. RESULTS: Sequence analysis for both siblings revealed familial variants of uncertain significance (VUS) in FOXP3 [c.1129C>G(p.His377Asp0)]. The proband also had 2 VUS in LRBA [c.3905C>T(p.Thr1302lle) and c.7675G>T(p.Ala2559Ser)]. The same LRBA variants were inherited in cis from the proband's unaffected father and LRBA protein expression was normal in all cells types analyzed. Both siblings had normal or increased percentages CD3 + CD4 + CD25 + FOXP3 + T regs cells. Tr1 and Tr1/Th3 precursor were normal (proband). CONCLUSIONS: These are the first reported cases of IPEX syndrome resulting from this novel FOXP3 variant. FOXP3 expression may be normal in patients with IPEX syndrome. Hematopoietic stem cell transplantation is being considered pending T regs suppression assays.

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