[Cerebral hemorrhage in a 4-week-old infant with homozygous alpha 1-antitrypsin deficiency]

Area of Science:

• Pediatric Medicine
• Hepatology
• Medical Genetics

Background:

• Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that can lead to liver and lung disease.
• Cholestatic hepatopathy is a liver condition characterized by impaired bile flow.
• Hypoprothrombinemia is a bleeding disorder caused by low levels of prothrombin, a protein essential for blood clotting.

Observation:

• A 4-week-old infant presented with severe intracranial hemorrhage.
• The infant was diagnosed with cholestatic hepatopathy and severe hypoprothrombinemia.
• Genetic analysis revealed the infant had alpha-1-antitrypsin deficiency of the ZZ type.

Findings:

• The infant's severe hypoprothrombinemia and intracranial hemorrhage were directly attributed to cholestatic hepatopathy secondary to alpha-1-antitrypsin deficiency (ZZ type).
• Further family screening identified another individual with the ZZ type of alpha-1-antitrypsin deficiency among the siblings of the clinically healthy parents.

Implications:

• This case highlights the critical role of early diagnosis of alpha-1-antitrypsin deficiency in infants presenting with unexplained bleeding or liver issues.
• It underscores the importance of genetic screening in families with AATD to identify at-risk individuals, even if asymptomatic.
• Understanding the link between AATD, cholestatic hepatopathy, and hypoprothrombinemia can improve clinical management and preventative strategies for affected families.