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    Here we report a case of congenital CMV infection with rare presentation as haemolytic anaemia in a 50-day-old infant. Clinical manifestations of our patient were pallor, jaundice, hepatosplenomegaly, and a deranged coagulation profile. Congenital CMV being the most common viral congenital infection should be suspected in every neonate and infant presenting with haemolytic anaemia. It is also the most common non-genetic cause of SNHL and not much is yet there for its prevention except for primary prevention as the role of immunoglobulin is still under trial.
    Hepatosplenomegaly
    Pallor
    Cytomegalovirus
    Prolonged neonatal jaundice has been previously reported in neonates with congenital hypothyroidism. Isolated central hypothyroidism is a rare disease which may be missed by newborn screening programs. Here, we report a case of isolated central hypothyroidism presenting with neonatal hyperbilirubinemia, anemia, and hepatosplenomegaly, which showed marked improvement with levothyroxine supplementation.
    Hepatosplenomegaly
    Pallor
    Levothyroxine
    Congenital hypothyroidism
    Central hypothyroidism
    Neonatal cholestasis
    Citations (1)
    Progressive pallor with hepatosplenomegaly is an alarming constellation of signs in children indicating a serious, ongoing disease process which has to be investigated for. Anemia and hepatosplenomegaly can be caused by a wide spectrum of conditions ranging from benign to life-threatening ones. We report the case of a 4-year-old child who presented with progressive pallor and hepatosplenomegaly along with diagnostic approach and review of literature. The child was diagnosed to have Gaucher disease.
    Hepatosplenomegaly
    Pallor
    Toddler
    Citations (0)
    Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management.An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene.Hepatosplenomegaly and pallor resulting from nutritional deficiency or bone marrow involvement in Wolman disease can mimic infant leukemia.
    Hepatosplenomegaly
    Pallor
    Failure to Thrive
    Bilirubin is a substance formed from the normal breakdown of erythrocytes in the body so that it gives a yellow color to the stool and urine. The test of bilirubin in the laboratory must avoid exposure to light, which can cause decreased serum bilirubin levels by up to 50% in 1 hour due to disruption of the bilirubin's stability. This study is a cross-sectional analytic study of primary data using 30 samples of jaundice baby serum and direct and total bilirubin test. Data collection was conducted from the primary data by a direct test using 40 samples of infant jaundice and test of direct bilirubin and total bilirubin using methods Dichlorophenyl Diazonium. The results of the tests of 40 samples can result in the mean levels of total bilirubin were exposed to the light of 8.58 mg/dl and were not exposed to light 12,67mg /dl. Direct bilirubin levels mean that exposure to light is 3.98 mg/dl. In contrast, the unexposed light of 8.71 mg/dl, so that it can be concluded that the levels of total and direct bilirubin in serum jaundice infants exposed to lower light compared with those not exposed to light.
    Direct bilirubin
    Serum bilirubin
    Citations (0)