Related Experiment Video
Updated: Feb 22, 2026
Modeling Posthemorrhagic Hydrocephalus of Prematurity in Rats
Published on: March 28, 2025
An infant with prolonged circumcision bleeding and unexplained coagulopathy
Ali Bay1, Ozlem Karaoglu, Ercan Sivasli
1Division of Pediatric Hematology, Department of Pediatrics, Gaziantep Universitesi Tip Fakultesi Cocuk Hastaliklari Klinigi, Gaziantep University, Gaziantep, Turkey.
Insights
Tyrosinemia type I, a rare genetic disorder, can cause severe bleeding in infants, even without obvious liver failure. Early diagnosis is crucial for managing this 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.
Abstract:
Tyrosinemia type I is a rare autosomal recessive disorder. Fulminant onset of liver failure can occur in the first few months of life. Because all of the clotting factors are produced exclusively in the liver except factor VIII, coagulation abnormalities are very common in patients with severe liver disease. Rarely a significant coagulopathy in the absence of overt signs of liver disease may be seen in hereditary tyrosinemia. We present a 4 weeks-old tyrosinemic infant who presented with severe bleeding after circumcision and no other signs of liver failure. The diagnosis of tyrosinemia should be kept in mind in differential diagnosis of bleeding disorders especially a severe coagulopathy unresponsive to vitamin K, and fresh frozen plasma, even when other signs of liver failure are absent.
Related Concept Videos
01:24Disorders of Hemostasis
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
01:09Coagulation
During the coagulation phase, clotting factors, or procoagulants, play a vital role in initiating and progressing the coagulation cascade. This cascade is a series of reactions...
01:20Extrinsic and Intrinsic Pathways of Hemostasis
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...