An infant with prolonged circumcision bleeding and unexplained coagulopathy.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Tyrosinemia type I is a rare autosomal recessive metabolic disorder.
• Severe liver failure is a common presentation in infants with tyrosinemia type I.
• Coagulation abnormalities are frequent in severe liver disease due to impaired synthesis of clotting factors.

Observation:

• A 4-week-old infant with tyrosinemia presented with significant bleeding post-circumcision.
• The infant showed no other clinical signs indicative of liver failure.
• This case highlights coagulopathy as a potential primary manifestation of hereditary tyrosinemia.

Findings:

• Hereditary tyrosinemia can manifest as a severe coagulopathy.
• The coagulopathy may be present even when overt liver disease is absent.
• The bleeding disorder was unresponsive to standard treatments like vitamin K and fresh frozen plasma.

Implications:

• Tyrosinemia should be considered in the differential diagnosis of unexplained bleeding disorders in infants.
• Prompt recognition is vital, particularly in cases of severe coagulopathy unresponsive to conventional therapies.
• This underscores the importance of considering metabolic disorders in pediatric bleeding cases.