A 10-year-old Caucasian female presents with hepatosplenomegaly and increased liver enzymes. She reported the onset of watery stools 5/d for several months but no emesis, abdominal pain, or weight changes. On initial physical examination, she had a firm liver 4 cm below the costophrenic margin, palpable spleen tip, and spider nevi. The remainder of the physical examination was unremarkable. Laboratory testing revealed hemoglobin 11.1, platelets 176, AST 262, ALT 218, GGT 116, alkaline phosphatase 323, albumin 3.3, direct bilirubin 0, ESR 58, CRP 1.7. Hepatitis A, B, and C screen and CMV and EBV titers were negative. ANA 1:640, anti-LKM-1 negative, anti-smooth muscle 81 (nl < 20), PT 16.5, PTT 32.4,and INR 1.76, factor VII 39%, α1-antitrypsin phenotype M1M1, urinary copper 32 μg, and pANCA positive. Stools were negative for infection. EGD showed grade III varices in the mid- to distal esophagus and at the gastroesophageal junction with red spots. Colonoscopy showed erythema, loss of vascularity, and friability continuously. Biopsies showed cryptitis, crypt abscesses, dysplastic crypt epithelium, and no granulomata consistent with ulcerative colitis. Liver biopsy revealed broad fibrous scars with numerous regenerative nodules and chronic active inflammatory infiltrate localized to the bile ducts consistent with primary sclerosing cholangitis. CT scan showed diffusely nodular liver surface and a recanalized umbilical vein consistent with portal hypertension. Autoimmune sclerosing cholangitis (overlap syndrome) is a well-known extraintestinal manifestation of inflammatory bowel disease. Our patient demonstrates that this condition can progress to end-stage liver disease before intestinal symptoms become apparent.
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