Neonatal cholestasis in Jordanian children: a single-center experience

Introduction
Neonatal cholestasis refers to conjugated hyperbilirubinemia that either presents at birth or develops within the first three months of life. The causes of neonatal cholestasis are extensive and can be classified based on the anatomical location of the pathology into extrahepatic and intrahepatic causes This study aimed to assess the frequency and underlying etiologies of neonatal cholestasis in a tertiary care center in Jordan.

Material and methods
We retrospectively reviewed the medical records of infants diagnosed with neonatal cholestasis during the study period. Demographic data, clinical presentations, laboratory results, imaging studies, and liver biopsies were collected and analyzed. Data were presented as percentages and averages.

Results
Of the 47 patients diagnosed with neonatal cholestasis, 55.3% were male, and the average age at presentation was 16.7 days. Jaundice was the most common clinical feature (100%), followed by clay-colored stools and dark urine (29.7%). Notably, 12.8% of patients had skeletal abnormalities. At presentation, the average total and direct bilirubin levels were 14.3 mg/dl (± SD 7.3 mg/dl) and 10.1 mg/dl (± SD 6.5 mg/dl), respectively. Abnormal liver ultrasound findings were observed in 8 patients (17%). In our cohort, metabolic and genetic disorders were the most common underlying causes of neonatal cholestasis, followed by extrahepatic anatomical biliary disorders.

Conclusions
Causes of neonatal cholestasis vary depending on the population. Metabolic and genetic disorders were the leading causes of death in our cohort. Hence, genetic testing may help reduce costs and fruitless investigations in affected infants.