Misdiagnosis of Alpha-1 Antitrypsin Phenotype in an Infant with CMV Infection and Liver Failure

Journal Articles

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Digestive Diseases and Sciences, Vol. 59, page(s): 1710-1713

August 2014


Case study of a 4-month-old female with a history of neonatal cholestasis.

Key Points:

  • Infantile cholestasis with aminotransferase elevation requires a careful systematic clinical evaluation, including considerations of obstructive, infectious, and metabolic etiologies.

  • A missed A1AT diagnosis based on incorrect A1AT serum protein identification is a rare but clinically important consideration. In certain cases, repeating A1AT level, genotype, and re-interpreting histopathologic analysis is warranted.

  • In the neonatal age group, infections leading to neonatal hepatitis can be common and, in susceptible patients, can develop into irreversible acute liver failure.

  • When a patient with A1AT deficiency initially manifests with acute liver failure, a second etiology should be investigated, such as infections, medications, or metabolic disease.


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