PMC4367052_01
Family pedigree of the case showing consanguineous marriage of parent, proband (arrow) and the youngest sister of proband
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F1
The youngest sister of the patient had died with similar complaints at 5 years of age [Figure 1].
Gross photograph of brain showing mild atrophy
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F2
Brain weighed 1070 g [Figure 2] and microscopy from sections of different parts of brain and cervical spine was normal.
Gross photograph of liver, cut section showing micro and macronodules
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F3
External surface of liver showed micro and macronodular areas, cut surface was nodular [Figure 3] and microscopy showed features of cirrhosis [Figure 4].
Microphotograph of liver showing hepatocytes in nodules (single arrow) with thick fibrous bands (H and E, x100). Inset shows patchy copper staining (double arrow) in liver (Rhodamine x100)
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F4
External surface of liver showed micro and macronodular areas, cut surface was nodular [Figure 3] and microscopy showed features of cirrhosis [Figure 4]. Liver biopsy block was subjected to copper staining with rhodamine stain, which showed patchy positivity in hepatocytes in cirrhotic nodules and focally in Kupffer cells [Figure 4].
Gross photograph of spleen, cut section showing features of congestion
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F5
Spleen weighed 600 g, firm in consistency, cut surface showed foci of infarct and fibrosis [Figure 5] and microscopy showed features of congestion, Gamna Gandy bodies, and areas of fibrosis, infarction and calcification [Figure 6].
Microphotograph of spleen showing Gamna Gandy bodies (H and E, x100)
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F6
Spleen weighed 600 g, firm in consistency, cut surface showed foci of infarct and fibrosis [Figure 5] and microscopy showed features of congestion, Gamna Gandy bodies, and areas of fibrosis, infarction and calcification [Figure 6].
Microphotograph of esophagus showing dilated blood vessels in lamina propria (H and E, x400)
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F7
Esophagus showed multiple dilated and congested blood vessels in lamina propria and submucosa [Figure 7].
Gross photograph of stomach showing dilated stomach with wall thinned out
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F8
Stomach wall was dilated, thinned out [Figure 8] and mucosa showed atrophic changes.
Gross photograph of right and left kidney showing shrunken left kidney
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F9
Left kidney measured 5 cm x 3 cm x 1 cm, cut section showed thinning of cortex [Figure 9].