Haemophilia A (factor VIII deficiency) and haemophilia B (factor IX deficiency) are hereditary bleeding disorders transmitted in an X-linked manner. Severity of haemophilia is classified on the basis of patient's baseline factor level. Factor level <1% of normal is severe, between 1% and 5% is moderate and >5% is mild haemophilia.1
The majority of patients with haemophilia are diagnosed at birth due to family history, although one-third of patients with haemophilia represent a new mutation,2
as in our case. About 1–2% of neonates with haemophilia may develop spontaneous intracranial haemorrhage (ICH), while massive ICH occurs in cases of difficult deliveries;3
hence, vacuum extraction and forceps delivery are to be avoided. Surprisingly, our patient with severe haemophilia developed no clinical evidence of ICH despite multiple adverse factors like prolonged labour, presence of caput, failed vacuum extraction and forceps delivery. Even circumcision on day 7 and intramuscular injection at birth and at 6 weeks did not lead to excessive bleeding or intramuscular haematoma. The stress of delivery and other neonatal problems may transiently elevate factor VIII levels into the normal or near normal range1
and this could possibly explain the absence of intracranial bleeding, intramuscular haematoma and bleeding from circumcision in this case.
CNS bleeding is the most dreaded life-threatening haemorrhage seen in people with haemophilia. Incidence of CNS bleeding in patients with haemophilia is variously quoted as 2.2–7.8%.4
In a series of 2500 patients with haemophilia over a period of 11 years, the prevalence rate of CNS bleeding for factor VIII and factor IX deficiency was 2.7% and 3.6%, respectively.5
Out of 71 patients in this series who had CNS bleeding, 65 had intracranial while only 6 (8.4%) had intraspinal bleeding. History of trauma to the spine was present in five patients and, hence, occurrence of spontaneous intraspinal bleeding is an extremely rare event in haemophiliacs. Intraspinal bleed could be intramedullary, subdural or epidural (ie, extradural). Most of the cases reported have been in children under 5 years of age;6
the youngest being 3-month-old7
in whom SEH occurred post-lumbar puncture. Hence, we feel our case is the youngest reported spontaneous, non-traumatic, SEH in haemophiliacs. Although older children present with variety of signs and symptoms, like acute onset neck and back pain, walking impairment with urinary retention and acute transverse myelitis, initial symptoms in infants can be non-specific leading to a diagnostic dilemma. Infants can present with irritability without a focus, torticollis or respiratory distress.6 8
Our case had none of these signs and symptoms but presented with quadriparesis along with bladder and bowel involvement.
MRI scan is the modality of choice for the early diagnosis of this potentially reversible cause of spinal cord compression. Epidural haematomas are more commonly posterior to spinal cord than anterior,9
as in our case. Early conservative management with factor replacement is safe and effective leading to complete neurological recovery.10 11 12
Our case also demonstrated this in 3 weeks with factor VIII replacement. As CNS haemorrhages may occur without known trauma and early signs and symptoms can be minimal and non-specific, replacement treatment should be initiated even before radiological evaluation. Treatment of CNS haemorrhage involves replacement treatment to achieve a level of 100 U/dl for factor VIII and 80 U/dl for factor IX, maintenance of adequate haemostatic level (>50 U/dl) for a minimum of 14 days and a more prolonged period of prophylactic treatment for an additional 2–3 weeks or longer to ensure resolution of the underlying event.1
Factor VIII dose in units can be calculated by using the formula: factor VIII in units=U/dl desired rise×body weight in kg×0.5.
Patients with CNS bleed have a risk of recurrence for approximately 6 months after an episode;, hence, these patients often continue to receive prophylactic factor VIII treatment for this period in the dose of 20–40 U/kg alternate day or three times a week. Surgical decompression is considered only in selected patients with progressive symptoms, failure of symptoms to resolve with conservative treatment and delayed diagnosis and treatment.13 14
- SEH is a rare complication of haemophilia.
- Excessive bleeding due to forceps and vacuum application, circumcision and intramuscular injection can be absent even in the presence of severe haemophilia.
- Initial symptoms of SEH in infants can be non-specific leading to diagnostic dilemma and MRI scan is the modality of choice for the early diagnosis of this potentially reversible cause of spinal cord compression.
- Early conservative management with factor replacement is safe and effective leading to complete neurological recovery, and surgical decompression is considered only in selected patients with progressive symptoms, failure of symptoms to resolve with conservative treatment and delayed diagnosis and treatment.