Diagnostic Dilemma

Neonatal cholestasis


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Question
A 4-month-old female child born of non-consanguineous marriage presented with jaundice and high colored urine since birth. There was no history of clay colored stools. On examination, the child had icterus and a firm hepatosplenomegaly. There were no cataracts and no signs of liver cell failure. The child had no dysmorphic features. A diagnosis of neonatal cholestasis was considered. Her hemoglobin was 8 gm% and WBC count was 17,000/cumm with platelet count of 1,29,000/cumm suggestive of thrombocytopenia. Total serum bilirubin was 35.6 mg% and direct bilirubin of 21.6 mg% and indirect bilirubin of 14 mg%. Her liver enzymes were deranged with SGOT of 444 IU/L and SGPT of 120 IU/L. Her prothrombin time and partial thromboplastin time were normal. She had hypoalbuminemia with total serum Albumin being 2.1 gm%. Ultrasound of the abdomen showed prominent hepatic artery with coarse liver echotexture. Common bile duct was 5 mm. HIDA scan showed poor tracer uptake with non-visualization of intra hepatic biliary tree, gall bladder or extrahepatic biliary tree. There was no tracer seen in the gut even after 24 hours. However, duodenal aspirate was positive for bile salts and pigments ruling out biliary atresia. Her TORCH titres were negative and thyroid function tests were normal. Her serum alpha-1 antitrypsin levels were normal. There was no evidence of metabolic acidosis. The liver biopsy ruled out biliary atresia and echocardiography was normal. Plasma aminoacidogram was normal.

Which important diagnosis has not been ruled out?
Expert Opinion :
One most important test that is required is Urine for reducing substances to rule out galactosemia which is a preventable cause of liver cell failure. In this child urine reducing substance was positive and urine organic acids showed presence of galactitol & galactonate by urine chromatography (MILS method). Thus she was diagnosed as Galactosemia and started on galactose free diet (soya milk) with supplementation of Vitamin E, K, A, C and Ureodeoxycholic acid.
Galactosemia is a disorder of galactose metabolism. Three inherited disorders of galactose metabolism have been described. They are all transmitted by autosomal recessive inheritance. The clinical manifestations in infants are due to toxic effects of prolonged exposure to galactose. Jaundice presents in a few weeks and is initially unconjugated. Untreated it may progress to liver disease and cirrhosis. Ascitis may be a prominent early finding. Histopathology of liver reveals fatty infiltration and inflammatory changes at an early stage. As the disease progresses, bile stasis, pseudoacinar formation and partial fibrosis is seen eventually leading to cirrhosis. Cataracts can be observed within a few days of birth. Mental retardation becomes apparent after several months of life. There is a high frequency of neonatal death due to E.coli sepsis. Preliminary diagnosis is demonstrated by presence of reducing substance in urine while patient is receiving milk-containing lactose. The reducing substance can be identified by chromatography or by an enzymatic test specific for galactose. The mainstay of therapy is lactose free diet as failure to eliminate galactose results in progressive liver failure and death. In infants with manifestations of toxicity, the galactose free diet results in regression of all symptoms and signs – nausea & vomiting cease, weight gain ensues, liver abnormalities clear, galactosuria & albuminuria clear, and cataracts regress. In infants soy milk is beneficial. Milk restriction is to be maintained life-long.
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