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Boletín Clínico de la Asociación Médica del Hospital Infantil del Estado de Sonora

2019, Number 1

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Bol Clin Hosp Infant Edo Son 2019; 36 (1)

Thick bile syndrome in a neonate with Beta-Thalassemia Minor Syndrome. Case report and literature review

Quero HA, Zárate AR, Quero EA, Reyes GU, Álvarez SRM, Mijangos CI

Language: Spanish
References: 17
Page: 35-42
PDF size: 563.67 Kb.


ABSTRACT

Introduction. The Beta-Thalassemia syndrome, where there is alteration in the production of the beta chain of globulin. The thick bile syndrome or bile plug defined as an extrahepatic obstruction of the bile ducts in term newborns, without having anatomical abnormalities or biochemical defects. Both entities can give rise to neonatal hyperbilirubinemia. The low presentation and low incidence in the association of these two syndromes in the neonatal stage was reason to make the description of the clinical case and review the literature
Clinical case. Male term newborn, with 5 days of extrauterine life. Current condition began, a few hours after the birth to note icteric conjunctival dye and was progressive. Physical examination at admission with generalized jaundice (Kramer VI). Hematical and liver function tests with severe anemia and mixed hyperbilirubinemia. Hemoglobin electrophoresis: Hb A1 44.5%, HbF 54.7%, Hb A2 0.8%
Discussion. In this case we have described the association of beta thalassemia minor and thick bile syndrome, wich presented a significant picture of mixed hiperbilirubinemia, especially of the direct fraction with minimal morbidity. Undergoing favorable evolution with hydration therapy, ursodeoxycholic acid, transfusion of erythrocyte concentrates, and at 8 weeks of discharge the total bilirubin values are 2.5 gr/dl and the direct fraction 0.5 mg/dl.


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