How to cite this article: Micaela U, Matías B, Lucas C, Alejandra I B, Patricia R D s, et al. Intracranial Subdural Haemophilic Pseudotumor: Case Report.
002 Open Access J Neurol Neurosurg. 2017; 2(3): 555590. DOI: 10.19080/OAJNN.2017.02.555590
Hemophilia is an autosomal recessive disease linked to the X chromosome. It runs with Factor VIII deficiency (Type A, more frequent), and Factor IX deficiency (Type B). A hemophilic pseudotumor is an infrequent complication of this disease, mainly in severe cases. Starker was the first to report a case in a 14 year old boy, in 1918. The estimated incidence is of 1-2% in severe hemophiliacs, although some pseudotumors have been reported in moderate cases. This kind of tumor is generally seen in long bones such as femur and humerus, pelvis, and small bones of hands and feet. Cases have also been reported in the cranium, orbit and facial bones, and only one previously similar to this case report. We present a case of an intracranial subdural hemophilic pseudo tumor in a patient with type A severe hemophilia.
Hemophilia is an autosomal recessive disease linked to the X chromosome. Type A is the most frequent one and is caused by Factor VIII deficiency [1,2]. Type B has Factor IX deficiency, and is less common. Hemophilic pseudotumors are an infrequent complication of this disease. Starker was the first to report a case in a 14 year old boy, in 1918 . In 1965, Fernandez de Valderrama and Matthews described the condition as a “chronic cystic inflammation of the muscle, caused by recurrent bleedings, and associated with radiological evidence of compromised bone structure” [4,5]. Based on the scarce published information, the estimated incidence is of 1-2% in severe hemophiliacs, although some pseudotumors have been reported in moderate cases [3,4,6-9]. This kind of tumor can be more frequently found in long bones such as femur and humerus, pelvis, and small bones of hands and feet [3,4]. Cases have been reported in the cranium, orbit and facial bones, but always characteristically included bone structures [10,11]. There is only one intracranial case reported in 2009. We present a case of an intracranial subdural hemophilic pseudotumor in a patient with severe factor VIII deficiency.
A 45 year old male with severe Factor VIII deficiency was referred from another institution with weakness in the right arm that had progressed for 2 months, and had worsened the previous week the hospital admission. He had also an urinary infection at the time of admission. His past medical history included Hepatitis C, epilepsy, and knee replacement secondary to hemarthrosis in 2013. He had also suffered a traumatic brain injury when he was 4 years old, and later on was diagnosed with intracranial hemophilic pseudotumor by an hematology service of another institution. No surgical treatment was done at this stage, and the patient was followed with serial CT scans along the years. 40 years ago in Argentina there wasn’t a good access to the treatment known as anti-haemophilic prophylaxis, which basically consists of intravenous Factor VIII three times a week, to prevent spontaneous bleeding. The only available treatment was poor quality Factor VIII that was administrated only in bleeding episodes. However, the patient did eventually gain full access to prophylactic treatment, but he did not self-administer factors on a regular basis, as he was taught to do by his former doctors. He was thus always treated on demand, and factors were administered only on bleeding episodes.The haemophilic pseudotumor was probably a consequence of poor treatment and low adherence to it.
On admission, the patient presented with right homonymous hemianopsia, mild right hemiparesia, generalized hyperreflexia and hypoesthesia in right arm and leg. Hebrought with him
a CT head scan from September of 2010 which showed an
heterogeneous left fronto-parietal lesion, with calcification
areas, in contact with the meninges, and slight mass effect over
the parenchyma, with no surrounding edema (Figure 1). A new
CT head scan showed a largerheterogeneous fronto-parietal
mass, with calcification areas and severe mass effect over the
parenchyma, with no surrounding edema (Figure 2). It was
decided to do an MRI with contrast to further characterise the
lesion, and anMRA, to rule out a vascular malformation, given
the repetitive bleeding episodes (Figure 3). The patient was
treatedwith ceftriaxone for the urinary infection, and he was
also given an intravenous bolus of 4000 IU of Factor VIII.
Given that the patient was symptomatic, we decided for
surgical resection of the lesion. He was first treated with 3000 IU
of Factor VIII every day until the surgery. The patient was given
9000 IU of Factor VIII intraoperatively (100IU/kg). A left frontoparietal
incision was performed. When the bone was reached,
there was a visible defect on it, which suggested that the lesion
had eroded through (Figure 4). After the craniotomy was done, a
large mass resembling an organized clot was encountered, which
was beneath the dura mater, had several calcified areas, and was
directly contacting the cerebral parenchyma, but not infiltrating
it (Figure 5). The lesion was fully extracted (Figure 6) and was
sent for histology. This showed signs linked to an encapsulated
chronic hematoma (Figure 7).
The patient remained with intraoperative doses of Factor
VIII for four more days, and then this was weaned to three
weekly prophylaxis of 2000 IU of IV Factor VIII, which is
his present treatment. Ten days after surgery the wound
began to leak CSF, but resolved with suturing, antibiotics, and
acetazolamide. A CT scan at that point showed good evacuation
of the pseudotumor, with minimal postoperative effusion. He
was discharged approximately 2 weeks after the surgery, CT
and MRI control images done two months after the operation
showed no recurrence of the lesion (Figure 8&9). The patient
had a favorable evolution and recovered total motor function
after one week (Figure 10). Afterwards the patient was followed
with head CT and head MRI scans at 2, 6 and 12 mounths that
showed no recurrence of the lesion.
The natural history of this disease is of a slow growing
clot that may or may not be product of a banal trauma ,
perpetuated by small internal haemorrhages that gradually
increase its size [3,7]. Although they are avascular, they develop
a capsule that is well irrigated. This rich vascular supply causes
the repeated haemorrhages, which result in the expansion of
the mass . These lesions can compress and erode adjacent
structures like bones and neurovascular structures, causing
pathological fractures, neurological symptoms, skin necrosis
and infections [11,12].
Haemophilia can be classified based on the quantity of factor
present in blood, as mild (coagulation factor more than 5% of
normal value), moderate (1%-5% of normal value), or severe
(less than 1% of normal value) . Apart from ours, fourteen
cases have been reported of hemophilic pseudotumors in the
cranium (Table 1). Seven of those cases occurred in moderate
hemophiliacs and five in severe ones (two were not specified).
This marks a difference with the rest of the areas in which this
disease is generally seen (for example long bones), as the latter
present themselves mainly in severe cases. Almost all cranial
cases affected bone structures, with extension to the epidural
space, but never passed, o were born under, the dura mater. Only
one case in 2009 was subdural. Differential diagnoses include
Ewing sarcoma, giant-cell tumor, condrosarcoma, osteomyelitis,
tuberculosis and, in this case, meningioma, plasmocitoma, and
epidural or subdural calcified hematoma [3,5,8,14].
Most published cases had a history of trauma. The interval
from the traumatic incident and symptom presentation and
diagnosis can vary between months and years . This is why it
is of the utmost importance to keep a thorough track of traumatic
episodes, so as to alert the physician of possible pseudotumors
in the future.
Simple x-rays and CT scans are useful to evaluate bone
extension and calcifications, given that these cases generally
take years to develop . CT with contrast might show a
capsule if present. However, the imaging of choice is MRI [3,9].
Chronic haemorrhage is hypointense in T1 and T2 because of
the hemosiderine; and the capsule´s hypointensity is better
visualized in T2 than T1, because of fibrous organisation. The
heterogeneous signal of the haemophilic pseudotumor in both
CT and MRI is caused by the different evolution of blood products
Several possible treatments have been described, but none
have proved as effective as surgery. Small and asymptomatic
pseudotumors could be managed conservatively with coagulation
factors and immobilisation [4,6]. The possibility of aspirating
via puncture was mentioned in other cases (not in the cranium),
but that predisposed to recurrence, fistulas and infections
[3,4,7,10,15,16]. Radiation treatment has been proposed as a
treatment but its mechanism of action is unknown [3,9,15] and at least in cranial cases it would represent unnecessary brain
exposure to radiation. Nevertheless, this method could be useful
in cases where there is a Factor VIII inhibitor, in which factor
replacement and thus surgery are not an option [3,6,16].
There are no cranial cases that have been treated with
radiotherapy. Lastly, embolization could be used given that the
capsule is vascularised, generally by more than one artery. It
has a temporary effect, due to arterial recanalisation after some
weeks. It could be a helpful pre-operative tool, and has been tried
in pseudotumors outside the cranium [6,11,12]. Surgery is used
in those cases that do not respond to conservative treatment, in
symptomatic patients, evidence of neurovascular compression,
large masses, or to confirm the diagnosis [3,9,13]. With all this
said, because of the infrequent nature of this pathology, there
are no treatment protocols, and management is mainly based on
the individual case and previous reports. Correct pre- and postoperative
factor replacement by hematologists is a key factor,
given the increased risk of postoperative haemorrhages and
infections in these patients [17-19].
The life expectancy and treatment quality of haemophilic
patients has increased with the development of factor
replacement treatment, and so pseudotumors should likely
become less frequent. Still, it is important to know of their
existence, mainly to implement the corresponding prevention
techniques. It is precisely the lack of medical awareness that
permits growth of these tumours until they cause symptoms,
some of which may be irreversible. Surgery has proved to be a
good choice of treatment, without recurrence. We nonetheless
believe that the key to tackling this high morbidity complication
is close cooperation with haematology team, with correct followup
and control of the patient and his disease.