Progressive orbital hematoma following minor trauma revealing plasminogen activator inhibitor-1 deficiency

We report an unusual case of a 7-year-old female who presented to the ophthalmology department with progressive scalp swelling and right orbital hematoma following a trivial trauma. Ocular examination revealed tense right-sided proptosis, severe limitation of extraocular movements, exposure keratopathy, and reduced visual acuity. A diffuse, fluctuant scalp swelling was also noted. Imaging revealed a right extraconal orbital hematoma, diffuse scalp hematoma, and a small epidural hematoma. Despite a progressively enlarging orbital hematoma, routine coagulation parameters were within normal limits, creating a diagnostic dilemma and hesitation in surgical intervention. Detailed history revealed lifelong easy bruisability, third-degree consanguinity, and the neonatal death of a younger sibling, prompting evaluation for an underlying bleeding disorder. Clinical exome sequencing identified a rare homozygous missense mutation in the SERPINE1 gene, supporting the diagnosis of plasminogen activator inhibitor-1 deficiency. The patient was managed conservatively with multidisciplinary monitoring and had spontaneous resolution of the hematomas with complete visual recovery. This case highlights the importance of considering rare bleeding disorders in patients presenting with atypical, delayed onset and progressive hematomas with normal routine coagulation profiles, where premature surgical intervention without identifying the underlying etiology may lead to unfavorable outcomes.