D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity

Abstract

19 years old gentleman presented with deformity of lower limbs noticed two years back. Significant past h/o jaundice at 8 years of age, h/o fracture of right femur at 17 years of age following fall from bicycle and an atraumatic fracture at the same site one year later. He underwent cataract surgery one year back where he was found to have bilateral renal stone disease with elevated creatinine. He had short stature with scoliosis and apparent genu valgum on right. Biochemical evaluation showed CrCl of 40 ml/min/m2 with increased liver enzymes. He had hypophosphatemia with low-normal s.calcium, elevated ALP, elevated PTH (242 pg/ml) and normal 25(OH)D3. Urine evaluation showed impaired acidification along with glycosuria and phosphaturia in the presence of systemic acidosis and normoglycemia. Skeletal survey showed generalized rarefaction; DXA showed osteopenia. MBD secondary to RTA was considered. Ultrasound showed coarsened liver echotexture. Suspecting Wilson's disease, s.ceruloplamin and 24hrs urinary copper was done but was normal and KF ring was absent. Therefore, liver biopsy was done suggesting chronic hepatitis with dry weight copper of 127.23 mcg/gm (normal < 45 mcg/g) which was <4ULN needed for diagnosis. Can the diagnosis of Wilson's disease be made from the above findings or else, any alternative diagnosis to be considered?