MORE THAN JUST JAUNDICE: A MULTISYSTEMIC CASE OF ALAGILLE SYNDROME

Abstract

Background: Alagille syndrome is a rare autosomal dominant multisystem disorder characterized by cholestasis, cardiac anomalies, skeletal defects, renal involvement, and distinctive facial features. Case Report: “We present the case of a 3-year and 4-month-old female, second born to degree consanguineous parents, who was referred with swelling and pain in the left cheek secondary to a dento-alveolar abscess. She had a history of generalized pruritus, persistent jaundice since infancy, and recurrent respiratory infections requiring admissions. Antenatal history was unremarkable apart from maternal hypothyroidism. The child was born late preterm with intrauterine growth restriction, required brief NICU admission, and exhibited developmental milestones appropriate for age. Clinical examination revealed severe malnutrition, pallor, icterus, grade III clubbing, coarse facies, xanthomas, and dental caries. Cardiovascular examination identified an ejection systolic murmur area. Laboratory tests showed anemia, thrombocytosis, hyponatremia, and elevated gamma-glutamyl transferase and alkaline phosphatase, billirubin (direct and indirect). Imaging studies revealed small kidneys, mild to moderate pulmonary stenosis, and a butterfly vertebra at T6. Based on the constellation of features, a diagnosis of Alagille syndrome was made clinically.  Conclusion: This case highlights the importance of a detailed systemic evaluation in pediatric patients presenting with cholestasis, cardiac anomalies, skeletal defects, and failure to thrive. Comprehensive clinical assessment remains crucial for the diagnosis of Alagille syndrome, especially in settings where genetic testing is limited. Early recognition and multidisciplinary management are essential to optimize outcomes in affected children.