Chronic-Onset Hereditary Tyrosinemia Type I

Abstract

A 6-month-old male infant presented to the pediatric gastroenterology elinic for maternal concerns of abdominal distention since birth. The abdom­ inal distention was not associated with vomiting or diarrhea and had not improved despite multiple formula changes. Past medical history was signifi­ cant for ,B-thalassemia. A physical exam revealed a well-appearing, develop­ mentally appropriate infant weighing 8.3 Kg (75th percentile). The liver edge was palpable 2-3 cm below the right costal margin and a spleen tip was palpable as well. The patient had no jaundice, ecchymoses, or ascites. Laboratory studies revealed an albumin 3 g/dL, SCOT 66 run, SePT 37 IU/L, alkaline phosphatase 868 IU/L, unconjugated bilirubin 1.7 mg/dL, conjugated bilirubin 0 mg/dL, and eel' 66 IU/L. Serum bile acids, lactate, pyruvate, hepatitis serologies, and an autoimmune panel were all normal. The patient had both a prolonged prothrombin time of 16.8 sec and a partial thromboplastin time of 51.6 sec. The serum a-fetoprotein was 119,000 /-lg/L. Ultrasound revealed hepatomegaly with increased echogenicity of the liver (Figure I). Apercutaneous liver biopsy revealed severe portal f brosis wi th fibrous septa forming a mixed nodular pattern. Necrotic hepatocytes as well as swollen hepatocytes with fat droplets were present (Figure 2). A diagnostic test confirmed the diagnosis.