From: A neonatal presentation of factor V deficiency: A case report
Age at first presentation | Birth | 4 Days | 10 days | 18 Days | Birth |
---|---|---|---|---|---|
Clinical presentation | Hydrocephalus secondary to unilateral subdural hematoma | Large left subdural hematoma causing irritability, pallor, poor feeding | Antenatal diagnosis of increased head circumference and unilateral ventricular dilatation at 32/40, seizure on Day 10 | Pallor, excessive crying, bleeding from umbilical stump, Large unilateral intracerebral bleed with intraventricular extension with hydrocephalus | Subdural hematoma |
Family history | Consanguineous parents, no bleeding diathesis in family | Nonconsanguineous parents, no bleeding diathesis in family | Nonconsanguineous parents, no bleeding diathesis in family | Consanguineous parents, no bleeding diathesis in family | Nonconsanginous, no bleeding diathesis in family |
Clotting screen on presentation | PT: 33 (14) PTT: 87 (33) | PT: Very high PTT: immeasurable | PT: 61 s (31 s) PTT: 178 | Prothrombin ratio: 2.56 (Normal 1–1.2) APTT: >200 | PT: 58 s(control 8.7–11.5 s), APTT 198.8 s (control: 29.5–42.7 s) |
Factor V activity in baby (reference 70–120%) | < 1% | < 5% | 2% | 3% Presence of Factor 5 inhibitor 2.4 U | <0.4% |
Factor V activity in parents | 54%, 42% | 35%, 40% | 52%, 78% | 40%, 63% | 59%, 47% |
Treatment | Virus inactivated FFP | Virus inactivated FFP | FFP | FFP, platelet concentrate, activated prothrombin complex, immunoglobulins, single-volume exchange transfusion | No data |
Outcome | Global neurodevelopemental delay | At 6 months, neurologically normal, but recurrent mucosal and soft tissue hemorhages | VA shunt to drain the hydrocephalus | VP shunt for hydrocephalus, death following another episode of intracranial bleed | No data |
References | (4) | (2) | (3) | (5) | (1) |