Clinical case of alagille syndrome type 1 with manifestation in infants

The main cause of jaundice with a predominance of direct hyperbilirubinemia in infancy is neonatal hepatitis, which resulted in atresia of the extrahepatic or intrahepatic biliary tract. However, the hereditary nature of the disease cannot be ruled out. A diagnostic search for the genesis of the disease and establishing the level of damage to the biliary system is a very complex task and requires non-routine laboratory and instrumental studies, such as ultrasound of the abdominal organs with duplex scanning and spectral Dopplerography, magnetic resonance imaging (MRI), liver elastography, percutaneous liver puncture biopsy. Consultations with a geneticist, hepatologist, and surgeon are necessary. Treatment of such a severe pathology that manifests itself in the neonatal period must be comprehensive and carried out on the principle of an interdisciplinary approach, carried out in highly specialized medical institutions. Diagnosis of hereditary diseases accompanied by cholestasis syndrome is not a routine research method, requires certain material costs, and is not always feasible in the Republic of Belarus. The authors of the article reviewed a clinical case of cholestatic jaundice identified in a boy in the second month of life. Dynamic observation of the child allowed us to assume the hereditary nature of cholestasis, which was the basis for further examination of the baby using the method of massively parallel sequencing (cholestasis panel) in the selective screening laboratory. Alagille syndrome type 1 was identified. The authors analyzed the directions of clinical, laboratory and instrumental search for disorders of the hepatobiliary system, and provided a detailed description of the present case, which, of course, is of academic interest for a practicing physician.

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