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. 2013 Mar 27;5(3):156-9.
doi: 10.4254/wjh.v5.i3.156.

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

Joo Whee Kim  1 , Jong Hyun Kim, Jeong Kee Seo, Jae Sung Ko, Ju Young Chang, Hye Ran Yang, Kyung Hoon Kang
Affiliations

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

Joo Whee Kim et al. World J Hepatol. .

Abstract

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA.

Keywords: Early diagnosis; Hepatolenticular degeneration; Molecular genetics; Mutation; Wilson disease.

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Figures

Figure 1
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
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
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
Figure 4
Pedigree. The patient has a compound heterozygote of p.G1186S and c.4006delA.
See this image and copyright information in PMC

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