PMC5080501_01
MRI of a 22-year-old male patient with lipoma arborescens of knee joints. Sagittal noncontrast T1 (b), weighted image, showed high signal intensity frond like synovial thickening in the suprapatellar bursal region (arrow) with joint effusion. GE HDesigna 3.0 Tesla magnetic resonance imaging system TR-737ms TE-9.3ms 3.5 mm slice thickness with interslice gap of 1 mm was used. Sagittal (a), coronal (c), and axial (d) fat suppressed proton density images revealed complete suppression of signal intensity of villous projections (arrow) in suprapatellar bursal region. GE HDesigna 3.0 Tesla magnetic resonance imaging system was used. Sagittal TR-2264ms TE-24ms 3.5 mm slice thickness with interslice gap of 1 mm, coronal TR-2740 TE-24 3.5 mm slice thickness with interslice gap of 0.5 mm, and axial TR-1956 TE-22.8 4 mm slice thickness with interslice gap of 1 mm.
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The magnetic resonance imaging (MRI) of the knees showed massive effusion associated with multiple frond like synovial thickening of high signal intensity in sagittal T1 weighted image especially in the suprapatellar region (Figure 1). Fat suppressed proton density images (Figure 1) revealed complete suppression of signal intensity of villous projections in suprapatellar region.
Histopathologic changes of synovial biopsy. Histopathologic examination of synovial biopsy revealed multiple villi having fatty core lined by hyperplastic synoviocytes with chronic inflammatory cell infiltration (hematoxylin and eosin stain 4x).
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Synovial biopsy guided by the ultrasound was performed and the histopathologic examination revealed a fibroadipose synovial membrane with small vascular proliferation and a small amount of lymphocytes and mononuclear cells infiltration (Figure 2).
CD40LG gene analysis of the patient and his mother. CD40LG gene analysis showed the deletion mutation of cytidylic acid residue at position 520 in exon 5 region in the patient (a). The patient's mother carried the same mutation (b).
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Premature termination occurred in 190 amino acids (numbering according to Hollenbaugh et al.; Figure 3(a)). The patient's mother carried the same mutation (Figure 3(b)).