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Hepatosplenomegaly in a 4-month-old Cystic Fibrosis patient

Contributed by:
Ian Robb and Elizabeth Nizalik
Children's Hospital of Eastern Ontario, Ottawa, Canada.


History:

This 4-month-old baby boy, previously diagnosed with cystic fibrosis and with an episode of neonatal hepatitis at 6 weeks, was sent for percutaneous liver biopsy because of an enlarged liver and spleen and hepatic dysfuntion. An HIDA scan showed delayed excretion from biliary tree to bowel. The question of a metabolic storage disorder was raised, as CF was considered an unlikely cause of significant liver damage in a patient of this age.

Light microscopy (fig. 1 & 2) showed extensive bridging fibrosis, moderate bile duct proliferation and regenerative nodules, consistent with micronodular cirrhosis. There were no normal portal tracts. The hepatocytes showed focal acinar transformation with mild cholestasis and mild microvesicular fat accumulation. Occasional apoptotic liver cells were surrounded by inflammatory cells.

No evidence of viral inclusions was seen, and Kupffer cells were unremarkable. Hepatocytes close to the fibrous bands showed some small PAS positive, diastase-resistant granules in the cytoplasm.

Electron Microsopy (figs 3 & 4) showed hepatocytes with abundant mitochondria, normal peroxisomes, glycogen and a few lipid droplets. Most of the cells showed no evidence of storage material, but hepatocytes in the periphery of nodules showed accumulations of a finely granular material in the distended cisternae of rough endoplasmic reticulum. This material was of medium density, and the distended profiles of ER had a pleomorphic, cloud-like appearance. In many profiles the granular material only partly filled the cisternae, leaving electron lucent spaces under the membrane and elsewhere.

 

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