CHRONIC-ONSET HEREDITARY TYROSINEMIA TYPE I
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE(2001)
摘要
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.
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