(pictured left to right: Z. Khan, D. Stolz, S. Ranganathan)
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan. “A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency.” Pediatric Developmental Pathology 2017 Mar/Apr;20(2):176-181. PubMed PMID: 26855337.
ABSTRACT: Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place.
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