Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.
Here we report the case of a one-year-old girl with dominant partial IFNγR1 deficiency who suffered from lymphadenitis and multiple sites of osteomyelitis due to BCG infection.
Interestingly, both patients displayed multifocal osteomyelitis, which is often seen in patients with Mendelian susceptibility to mycobacterial diseases with autosomal dominant partial IFN-γR1 deficiency.
A maternal history of multifocal Mycobacterium kansasii osteomyelitis and cutaneous M avium complex led to genetic confirmation of IFN-γ-R1818del4 deletion (a 4 base pair deletion at nucleotide position 818) in both family members.
This study demonstrated that partial dominant IFN-gammaR1 deficiency was the most common in Japanese patients who showed predisposition to curable BCG osteomyelitis.
This study demonstrated that partial dominant IFN-gammaR1 deficiency was the most common in Japanese patients who showed predisposition to curable BCG osteomyelitis.
Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis.Recently Lorden et al.
Results - The IL1RN*2/*2 genotype was associated (OR: 7; p < 0.001) with a higher risk of osteomyelitis and was also significantly associated with Staphylococcus aureus infection.
Mutations in Pstpip2, LPIN2 and IL1RN have been identified in monogenic autoinflammatory bone disorders that have allowed more detailed dissection of the immunologic defects that can produce sterile osteomyelitis.
Interleukin-1 receptor antagonist (IL-1Ra) deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis.
ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure.
Older patients with a higher admission CRP value warrant an immediate magnetic resonance imaging, as they are likely to have osteomyelitis, which was associated with worse outcomes when compared with patients with isolated septic arthritis.
Risk factors for return to the operating room include elevated initial erythrocyte sedimentation rate and C-reactive protein, infection with MRSA, and presence of osteomyelitis.
(2) Can a diagnostic algorithm be derived to guide interpretation of ESR and CRP to improve recognition of osteomyelitis in the setting of diabetic foot infection?
Male gender (odds ratio [OR]: 1.31), smoking (OR: 1.38), history of amputation (OR: 1.47), history of osteomyelitis (OR: 1.94), peripheral arterial disease (OR: 2.35), retinopathy (OR: 1.32), International Working Group on the Diabetic Foot (IWGDF) grades 3 and 4 (OR: 1.7 and 2.5), Wagner grades 4 and 5 (OR: 4.3 and 6.4), gangrene/necrosis (OR: 9.9), osteomyelitis (OR: 4.5), neuroischaemic DFI (OR: 3.06), severe infection (OR: 3.12), length of hospitalization (standardized mean difference [SMD]: 0.7), leukocytosis (OR: 1.76), mean erythrocyte sedimentation rate (ESR) (SMD: 0.5), mean C-reactive protein (CRP) (SMD: 0.8), tissue culture positivity (OR: 1.61), and isolation of Gram-negative bacteria from tissue culture (OR: 1.5) were found as predictors of amputation in DFI.
Children with K. kingae SA were less likely to be younger than 3 months (0 vs. 42.3%; P < 0.001), had less anemia (21.4 vs. 50%; P = 0.010), lower C-reactive protein (3.8 vs. 8.9 mg/dL; P = 0.039), less associated osteomyelitis (0 vs. 26.9%; P = 0.033), shorter intravenous therapy (6 vs. 15 days; P < 0.001), and had a nonsignificant lower rate of sequelae (0 vs. 30%; P = 0.15) than children with SA caused by other bacteria.
This study sought to evaluate the effectiveness of the inflammatory markers, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), in monitoring treatment of osteomyelitis in the diabetic foot.
An erythrocyte sedimentation rate >36 mm/hour and C-reactive protein levels >60 mg/L were found in children with osteomyelitis or septic arthritis (p = 0.043 and <0.001, respectively).