Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• Hereditary prothrombin deficiency is a rare, autosomal recessive bleeding disorder.
• Severe bleeding is common in homozygotes, but intracranial hematomas are rare.
• Infantile intracranial hematomas often raise concerns of non-accidental trauma.

Observation:

• Two infants from consanguineous parents presented with acute subdural hematomas.
• Initial suspicion due to the presentation and family's unstable socio-economic status pointed towards child battering.
• Further investigations revealed a bleeding diathesis caused by prothrombin deficiency.

Findings:

• DNA analysis identified homozygosity for a novel mutation in the prothrombin gene.
• The mutation (Lys for Glu at codon 7) resulted in decreased specific clotting activity.
• This genetic defect explained the severe bleeding diathesis observed in the infants.

Implications:

• This case underscores the critical need to consider rare genetic bleeding disorders in the differential diagnosis of infantile intracranial hemorrhages.
• Accurate diagnosis prevents misattributing abusive trauma and ensures appropriate management of the underlying coagulopathy.
• Highlights the importance of genetic testing in unexplained bleeding events in infants, especially from consanguineous families.