ArticleOxford medical case reports2025
Fresh frozen plasma therapy in type I plasminogen deficiency: a case of ligneous conjunctivitis with hydrocephalus.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPlasminogen deficiency is an ultra-rare autosomal recessive disorder characterized by impaired fibrinolysis and the formation of fibrin-rich pseudomembranes. Ligneous conjunctivitis is the most common manifestation, whereas central nervous system involvement, such as hydrocephalus, is rare. Early recognition is essential to prevent irreversible complications. CASE PRESENTATION: We report a 3-year-old girl with progressive macrocephaly, antenatal hydrocephalus, and persistent pseudomembranous conjunctivitis. Imaging showed fused lateral ventricles and agenesis of the corpus callosum, consistent with obstructive hydrocephalus requiring multiple ventriculoperitoneal shunt revisions. Genetic testing confirmed type I plasminogen deficiency with a homozygous PLG mutation. Recombinant plasminogen was unavailable, and she was managed with fresh frozen plasma (FFP) infusions plus ophthalmic and anticonvulsant therapy. OUTCOME: Regular FFP stabilized her ocular and neurological condition, though recurrent shunt complications necessitated repeated hospitalizations.
conclusionThis case illustrates the diagnostic challenges of type I plasminogen deficiency and highlights FFP as a practical therapeutic option in resource-limited settings.
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