Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases

Figure 1 Histological findings. Biopsy specimen showing mild lobular activity, mild portoperiportal activity and periportal fibrosis with frequent portal to portal bridging fibrosis. A: Masson’s Trichrome stain, 40×; B: Masson’s Trichrome stain, 400×.

Figure 2 Electron microscopic examination. There was no evidence of abnormal mitochondria. Some fat vacuoles are found. In the portal area, a few inflammatory cells and collagen depositions are observed (original magnification 2000×).

Figure 3 Adenosine triphosphatase 7B sequencing. A: c.3556G>A, p.G1186S, heterozygote; B: c.4006delA, p.Ile1336TyrfsX57 (reverse complementary sequence, STOP 1392), heterozygote.

Figure 4 Pedigree. The patient has a compound heterozygote of p.G1186S and c.4006delA.