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Plasminogen Deficiency: A Case Report and Review.
Abdulrahman Nasiri1,2, Marwa Nassar1, Hazzaa Alzahrani1
1Hematology, King Faisal Specialist Hospital & Research Centre, Riyadh, SAU.
Cureus
|September 25, 2023
Summary
Plasminogen deficiency, a rare genetic disorder, can cause severe conjunctivitis and hydrocephalus. Plasminogen replacement therapy significantly improved symptoms in a pediatric case.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Plasminogen deficiency is a rare disorder impacting fibrinolysis, often presenting with ligneous conjunctivitis.
- Ligneous conjunctivitis involves thick, woody deposits on the conjunctiva, potentially leading to vision impairment.
Observation:
- A case report details a Saudi girl with plasminogen deficiency presenting with both ligneous conjunctivitis and hydrocephalus.
- Initial symptoms included recurrent eye redness misdiagnosed as simple conjunctivitis, with later development of hydrocephalus due to increased intracranial pressure.
Findings:
- Genetic analysis confirmed plasminogen deficiency.
- Clinical findings included ligneous conjunctivitis, variable visual acuity, and facial acne.
- Laboratory tests revealed significantly diminished plasminogen levels.
Implications:
- Plasminogen replacement therapy, administered intravenously and topically, markedly reduced hospitalizations and conjunctivitis severity.
- Challenges in plasminogen supply necessitate exploring alternative treatments like hepatic transplantation.
- This case highlights the importance of considering rare genetic disorders in complex pediatric presentations.
