case_images: PMC4367052_01
case_images: Family pedigree of the case showing consanguineous marriage of parent, proband (arrow) and the youngest sister of proband
case_images: JNSBM-6-248-g001.jpg
case_images: PMC4367052_01_JNSBM-6-248-g001.jpg
case_images: F1
case_images: The youngest sister of the patient had died with similar complaints at 5 years of age [Figure 1].
case_images: Gross photograph of brain showing mild atrophy
case_images: JNSBM-6-248-g003.jpg
case_images: PMC4367052_01_JNSBM-6-248-g003.jpg
case_images: F2
case_images: Brain weighed 1070 g [Figure 2] and microscopy from sections of different parts of brain and cervical spine was normal.
case_images: Gross photograph of liver, cut section showing micro and macronodules
case_images: JNSBM-6-248-g004.jpg
case_images: PMC4367052_01_JNSBM-6-248-g004.jpg
case_images: F3
case_images: External surface of liver showed micro and macronodular areas, cut surface was nodular [Figure 3] and microscopy showed features of cirrhosis [Figure 4].
case_images: 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)
case_images: JNSBM-6-248-g005.jpg
case_images: PMC4367052_01_JNSBM-6-248-g005.jpg
case_images: F4
case_images: 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].
case_images: Gross photograph of spleen, cut section showing features of congestion
case_images: JNSBM-6-248-g006.jpg
case_images: PMC4367052_01_JNSBM-6-248-g006.jpg
case_images: F5
case_images: 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].
case_images: Microphotograph of spleen showing Gamna Gandy bodies (H and E, x100)
case_images: JNSBM-6-248-g007.jpg
case_images: PMC4367052_01_JNSBM-6-248-g007.jpg
case_images: F6
case_images: 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].
case_images: Microphotograph of esophagus showing dilated blood vessels in lamina propria (H and E, x400)
case_images: JNSBM-6-248-g008.jpg
case_images: PMC4367052_01_JNSBM-6-248-g008.jpg
case_images: F7
case_images: Esophagus showed multiple dilated and congested blood vessels in lamina propria and submucosa [Figure 7].
case_images: Gross photograph of stomach showing dilated stomach with wall thinned out
case_images: JNSBM-6-248-g009.jpg
case_images: PMC4367052_01_JNSBM-6-248-g009.jpg
case_images: F8
case_images: Stomach wall was dilated, thinned out [Figure 8] and mucosa showed atrophic changes.
case_images: Gross photograph of right and left kidney showing shrunken left kidney
case_images: JNSBM-6-248-g010.jpg
case_images: PMC4367052_01_JNSBM-6-248-g010.jpg
case_images: F9
case_images: Left kidney measured 5 cm x 3 cm x 1 cm, cut section showed thinning of cortex [Figure 9].