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Cases of neonatal presentations of factor V deficiency reported in the English literature so far. |
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| Age at first presentation |
Birth |
4 Days |
10 days |
18 Days |
Birth |
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| 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) |
Chingale et al. BMC Pediatrics 2007 7:8 doi:10.1186/1471-2431-7-8 |
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