Antenatally diagnosed subdural haemorrhage in congenital factor X deficiency.

Abstract

SUMMARY The presence of a subdural haemorrhage was observed in a fetus during antenatal ultrasound examination. The infant was found to be a homozygote for factor X deficiency. Prompt recognition permitted replacement treatment from an early stage. Inherited coagulation disorders should be suspected when intracranial haemorrhage is detected antenatally.Congenital factor X deficiency is a rare coagulation disorder with considerable heterogeneity in its clinical manifestations. Intracranial haemorrhage in early infancy has been observed in a small number of these patients, and this is often associated with a poor outcome.' Although antenatal intracranial haemorrhage (including subdural haemorrhage) occurs as an unusual complication of other coagulation defects,2 it has never been found in association with this disorder. We report a girl with a subdural haemorrhage, diagnosed on ultrasound scans before birth, who was subsequently shown to have factor X deficiency. Case reportThe girl was born by caesarean section at 37 weeks' gestation. Her parents were first cousins and belonged to a family in which there had been a number of intermarriages. A male sibling had died at another hospital five years previously at 2 days of age from a hypoplastic left heart and had been noted to have an unidentified coagulopathy. The mother, who had a history of easy bruising, was investigated at that time and found to have a prolonged prothrombin time (British comparative ratio [1][2][3][4][5] and concentrations of factor V of 86%, factor VII of 60%, and factor X oi 41%. There was no other family history of a bleeding disorder.In this pregnancy the mother had booked at 22weeks' gestation. Details of her previous confinement and investigations were not known. An ultrasound scan had shown an appropriately grown fetus with no detectable abnormalities. The pregnancy proceeded uneventfully except for a minor fall down some stairs at 33 weeks. At 35 weeks, however, an ultrasound scan had shown a fluid collection with a straight medial border underlying the left parietal bone and a shift of the midline to the right. This appearance, which was thought to be due to a subdural haemorrhage, was seen on further ultrasound scans up to 37 weeks (fig 1). It did not appear to be enlarging. A caesarean section was performed in order to minimise trauma to the fetal head.

Idiopathic Intracranial Haemorrhage in the Fetus

“…Other reports have highlighted further possible causes of intracranial bleeds, including homozygous factor X deficiency [4], alloimmune thrombocytopenia [5], A-V malformations [6] and perinatal trauma and hypoxic events. Sherer et al [7] assessed the causes of fetal intracranial haemorrhage when reviewing the literature.…”

Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain

“…There is one report of successful long-term prophylaxis using FFP in a severely FX deficient infant with recurrent ICH [6] and regular Danazol has also been tried although with variable results [7]. However, most reports of long-term prophylaxis in FX deficiency concern PCCs [8][9][10][11][12][13][14][15][16]. Table 1 summarizes the patients, regimens and any haemorrhagic complications.…”

Factor X Deficiency Presenting with Bilateral Chronic Subdural Hematoma

“…Reports of intraparenchymal hemorrhage have been relatively more common [8,9,10,11,12]. Subdural hematomas have been reported in congenital factor X deficiency [5,9,13]. Fujimoto et al [14] documented an infant who had intraventricular and epidural hematomas.…”

“…The incidence of chronic subdural hematomas in children under 1 year of age is higher than in older children [1]. Patients with intrauterine subdural hematomas have been reported [2,3,4,5]. Most pediatric cases are caused by child abuse [1].…”