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Hereditary prothrombin deficiency

Muzamil Shabana Ejaz1, Nazia Latif, Ashraf Memon

  • 1Department of Pediatrics, Civil Hospital, Karachi.

JPMA. the Journal of the Pakistan Medical Association
|September 16, 2009
PubMed

Insights

Hereditary prothrombin deficiency, a rare bleeding disorder, was diagnosed in a 4-month-old infant presenting with sepsis and later bruising. Prothrombin levels were absent, confirming the diagnosis.

Area of Science:

  • Hematology
  • Pediatrics
  • Genetics

Background:

  • Hereditary prothrombin deficiency is a rare inherited bleeding disorder.
  • It affects the common pathway of the coagulation cascade.
  • Diagnosis can be challenging due to non-specific initial symptoms.

Purpose of the Study:

  • To report a case of hereditary prothrombin deficiency in an infant.
  • To highlight diagnostic challenges and clinical presentation.
  • To emphasize the importance of coagulation screening in infants with bleeding symptoms.

Main Methods:

  • Clinical case presentation.
  • Review of patient's medical history and symptoms.
  • Coagulation profile analysis, including prothrombin level assessment.

Main Results:

  • A 4-month-old infant initially presented with symptoms of meningitis and sepsis.
  • The infant was later readmitted with bruising, indicating a potential bleeding disorder.
  • Coagulation tests revealed an absent prothrombin level, confirming hereditary prothrombin deficiency.

Conclusions:

  • Hereditary prothrombin deficiency can present with severe symptoms in infancy.
  • Early recognition and diagnosis are crucial for effective management.
  • This case underscores the importance of comprehensive coagulation testing in pediatric bleeding disorders.

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