PMC5627226_01
PMC5627226_02
Liver histology by hematoxylin-eosin (HE) staining and cytokeratin 19 (CK19)
immunohistochemistry. a: before treatment (HE): giant cell formation and feathery
degeneration of hepatocytes with extramedullary hematopoiesis. b: before treatment
(CK19): small immature bile duct without lumen formation. c: after treatment (HE):
improvement of the enlarged hepatocytes. d: after treatment (CK19): neogenesis of the
bile ducts with lumen formation.
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Intraoperative liver biopsy showed bile duct hypogenesis with giant cell formation, feathery degeneration of hepatocytes, and hemosiderin deposition, but neither steatosis nor inflammatory cell infiltration was observed. (Figs. 1a and b). The second liver biopsy, performed at 8 mo old, showed improvement of hepatocytic degeneration and revival of normal interlobular bile ducts in portal tracts, suggesting that severe intrahepatic cholestasis had remarkably recovered (Figs. 1c and d).
MRI image of the brain (T1 weighted image). Arrow indicates ectopic posterior lobe.
Pituitary hypoplasia is observed. Pituitary stalk is not interrupted.
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TSH showed an over-response as well as a delayed response (Table 2). An MRI of the head revealed a hypoplastic pituitary with formation of an ectopic posterior lobe (Fig. 2). These results clarified the diagnosis of congenital CPHD.
Clinical course. HDC supplementation was started at 5 mo old. Direct bilirubin began
to decline soon after treatment and normalized at the age of 12 mo.
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The patient maintained normal physical and mental development at 1 yr and 9 mo old and showed no signs of jaundice or liver dysfunction at the time of his last evaluation (Fig. 3).