Disorders of the Liver MCQs

Explanation: On the first day of life, a term newborn usually receives about 60 ml of milk per kilogram of body weight . This volume is tailored to match the limited stomach capacity of the infant and to support a gradual adaptation of the gastrointestinal system , allowing feeding tolerance to improve as digestion matures. Reference: https://www.ncbi.nlm.nih.gov/books/NBK326679/

Neonatal cholestasis tends to produce conjugated hyperbilirubinemia in a neonate & usually produces prolonged jaundice. Extrahepatic biliary atresia (EHBA) is one of the most common causes of neonatal cholestasis and should be suspected in a term neonate if jaundice fails to resolve and persists beyond 2 weeks of postnatal age. EHBA should also be suspected if the neonate has jaundice with dark-coloured urine & clay-coloured stools. Reference: OP Ghai 10 th Edition, Pages 345-349

Biliary atresia is the most common indication for liver transplantation in children, followed by metabolic disorders. Reference: Nelson 21 st Ed, Harrison 20 th Ed, page 2415

The clinical picture is suggestive of neonatal cholestasis. The most common cause of neonatal cholestasis is Extra hepatic biliary atresia (EHBA). Biliary atresia is characterized by bile ductular proliferation, the presence of bile plugs, and portal or perilobular edema and fibrosis, with the basic hepatic lobular architecture intact. In neonatal hepatitis, there is severe, diffuse hepatocellular disease, with distortion of lobular architecture, marked infiltration with inflammatory cells, and focal hepatocellular necrosis; the bile ductules show little alteration. Giant cell transformation is found in infants with either condition and has no diagnostic specificity. Reference: Nelson 21 st Edition, Chapter 383

Glucose-6-Phosphatase deficiency produces GSD-1, also called as Von-Gierke's Disease. Deficiency of the enzyme leads to inadequate hepatic conversion of glucose-6-phosphate to glucose through normal glycogenolysis and gluconeogenesis, resulting in fasting hypoglycemia and accumulation of normal structure glycogen in the liver. Reference: Nelson 21 st Edition, Chapter 105.1

Wilson disease is a metal metabolism disorder characterized by excessive copper deposition in the liver, brain, kidneys, and eyes. Features include hepatic failure or cirrhosis, hemolytic anemia, KF rings in the eyes, sunflower cataracts, neuropsychiatric manifestations and parkinsonism-like features In CNS, the excess copper gets deposited into basal ganglia. Patients with Wilson disease may suffer from arthralgias and osteoarthritis but do not typically develop copper deposition in the bones, pancreas, ovaries, or salivary glands. Also note that pancreas and ovaries show deposition with iron in hemochromatosis, but these are not much affected by copper deposits in Wilson Disease. Infants with neonatal iron storage disease typically have excessive iron deposition in the liver, heart, pancreas, and salivary glands. Reference: Nelson textbook of pediatrics, 1 st SA ed., pg. 1939

Degree of conjugated hyperbilirubinemia is not a relevant distinguishing point between the two conditions. All others can be used to distinguish the two conditions. Also remember the following: Differences of Rotor Syndrome from DJS Unlike DJS, total urinary coproporphyrin excretion is elevated with a relative increase in the amount of the coproporphyrin I isomer. If liver biopsy is performed, there is no abnormal pigmentation in contrast to Dubin-Johnson. The gallbladder is normal on imaging in Rotor Syndrome, while it may be difficult to visualize in DJS Reference: OP Ghai 10 th Edition, Pages 331-332; Nelson 21 st Ed, Harrison 20 th Ed, page 2345