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Description
A boy aged 3 years presented to the emergency department with sudden onset of painless penoscrotal swelling and ecchymosis of 2 days. There was no history of trauma or similar presentation before this episode. No family history of bleeding disorder was present. On examination, his vitals were stable. Temperature of the scrotum and penis was normal. There was penoscrotal oedema and ecchymosis with loss of scrotal rugosities and normal shape of penis (figure 1). His blood investigations were unremarkable except for prolonged aPTT. Factor assay was performed which came out to be moderate factor VIII deficiency (3.4 IU/dL). The patient was started on intravenous recombinant factor VIII as per World Federation of Haemophilia (WFH) protocol.1 Bleeding was confirmed on high-resolution ultrasonography scan of the scrotum. The patient had an uneventful recovery in a week.
Learning points
Deficiencies of factor VIII and IX are the most common severe inherited bleeding disorders. Haemophilia has a high rate of spontaneous mutation and in the absence of positive family history, it may go undiagnosed in infants and toddlers.2
Severe and extensive bleeding may occur in open compartmental haemorrhages like in the retroperitoneal space, scrotum, buttocks or thighs.
All known and suspected cases of haemophilia should be assessed regularly for tachycardia, hypotension and increasing pallor.
Picture showing penoscrotal oedema and ecchymosis with loss of scrotal rugosities.
Footnotes
Contributors SAS worked up the case and prepared the final manuscript. VT managed the case, reviewed the literature and wrote the manuscript.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.