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Congenital hypofibrinogenemia.

Neeraj Awasthy1, K C Aggarwal, H Gupta

  • 1Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi 110 029, India.

Indian Pediatrics
|March 9, 2004
PubMed
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Congenital hypofibrinogenemia, an extremely rare bleeding disorder, was diagnosed in a 6-year-old girl. She experienced recurrent bruising without significant hemorrhage, highlighting a milder presentation of this condition.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Congenital afibrinogenemia/hypofibrinogenemia represents an extremely rare inherited coagulation disorder.
  • This condition is characterized by a complete or near-complete absence of fibrinogen, a critical protein for blood clot formation.

Observation:

  • A 6-year-old female child presented with a history of recurrent ecchymotic spots (bruising).
  • Notably, the patient did not exhibit any episodes of frank or severe bleeding.

Findings:

  • The case illustrates a presentation of congenital hypofibrinogenemia with predominantly bruising.
  • This suggests a spectrum of clinical severity for this rare coagulation disorder.

Implications:

  • This case expands the understanding of clinical manifestations in congenital hypofibrinogenemia.

Related Experiment Videos

  • It underscores the importance of considering rare bleeding disorders in pediatric patients with unexplained bruising.