Please help me! My twelve year old daughter was referred to liver centre with hepatosplenomegaly over a year and half ago. Ultrasound showed multiple refelective foci adjacent to portal vein branches. Lipid profile was HDL 0.7 mmol/L and LDL 7.5 mmol/L. Total protein 87 g/l, AST 110 IU/l.
Liver biopsy showed features of storage disordre with cirrhotic transformation. Fibrosis expanding portal tracts. Inflammation with necrotic hapatocytes. Kuppfer cells prominent with loose optically clear granular material, also seen withing similar cells in the portal tracts. Bone marrow aspirate was normal as was muscle bopsy. Skin biopsy results still pending after four months! Testing for Wolmams/CESD and Niemann Pick C, however consultant thinks will come back negative.. To top it off they have now found she has a heart murmur. She is pale and tired all the time but no-one seems that worried about it... except for me. Any ideas as we have a long wait until the next appointment!