Latest issue of British Medical Journal published the first reported case and youngest presentation of hemophilia as unilateral scrotal hematoma.
Though mostly of the scrotal swellings in neonates are benign and self-limiting; some potential catastrophic conditions such as testicular torsion, irreducible hernia, testicular neoplasm, scrotal hematoma need to be considered when dealing a case of scrotal swelling. In literature there were case reports of a toddler and adult diagnosed as hemophilia after evaluation for scrotal hematoma, but this is the first ever case presenting in the neonatal period.
A term newborn, with birth weight of 2.8kg was admitted at 12 hours of life at special nursery unit for treatment of congenital pneumonia. Upon examination he has mild respiratory distress requiring supplemental oxygen and IV antibiotics as Chest x-ray was suggestive of pneumonia.
Routine newborn examination at 45 hours of life revealed right scrotal swelling, measuring 2.2×2cm, which was erythematous, tender, and a positive transillumination test. Emergency ultrasonography was done to rule out testicular torsion; however findings were suggestive of infective collection or hematoma.
Platelet count was 3.9lakhs/cumm, hemoglobin was 19.4gm%, and CRP was negative. No coagulation profile was done as there was no family history of bleeding disorder and antenatal, intranatal history being uneventful. Baby recieved intramuscular vitamin K and Hep B vaccine at birth without any complications.
Pediatric surgeon opinion was sought for scrotal swelling, case was treated as infected hydrocele with a course of IV cloxacillin. The swelling gradually reduced over 2 months.
Mother being a staff nurse in NICU, knowing how severe and debilitating pneumococcal infections are in young infants; agreed for her son to participate in vaccine trial at her working hospital. He received his first dose of vaccine trial at 1 ½ months of age uneventfully. He received second dose of trail at 4 months of age after reassuring the fact from mother that there were no adverse events after first dose injection. On the following day, mother noticed huge swelling at injection site on right thigh which was firm, tender; however parents did not seek medical attention since swelling reduced spontaneously over a week.
When baby was seen at the hospital for third dose of vaccine trial, the study doctor noted multiple spontaneous bruises over inner arm and right groin. Mother denied any history of trauma, or medications. Hence third dose was deferred and child was withdrawn from the study. On hindsight, the scrotal swelling in the newborn period could represent a haematoma.
Henceforth a provisional diagnosis of bleeding disorder was made and according blood investigations were performed. His aPTT was significantly prolonged at 109s and no other significant abnormality was detected in the first line tests. Coagulation factor assay showed factor VIII activity <1% but had normal factor IX activity. The finding was consistent with severe hemophilia A.
Accordingly child was referred to hemophilia clinic for family screening and counselling.Targeted mutation analysis for intron 22 and intron 1 inversions which are common variants causing severe hemophilia, were done and reported as negative carrier status of mother could not be determined since linkage analysis showed homozygous for all 4 markers. His father and older brother had normal coagulation profile.
Child was given factor VIII replacement thrice weekly since the time of diagnosis and being followed up regularly at hemophilia clinic.
Authors wrote-" When a neonate presents with scrotal swelling with discoloration, scrotal hematoma should be considered as differential , even in absence of risk factors and family history of bleeding disorders."
Source:BMJ