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Table 1 Cases of neonatal presentations of factor V deficiency reported in the English literature so far.

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)