Clinical Neurology and Neurosurgery 103 (2001) 242– 244
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Case Report

Cerebral venous thrombosis in Down’s syndrome
Sultan Tarlaci a,*, Ayse Sagduyu a,b
a

Department of Neurology, Medical Faculty, Ege Uni6ersity, Borno6a, 35040 Izmir, Turkey
b
Intensi6e care unit, Medical Faculty, Ege Uni6ersity, Borno6a, Izmir, Turkey
Received in revised form 17 July 2001; accepted 17 July 2001

Abstract
We report the first case of cerebral venous thrombosis (CVT) diagnosed in an adult with Down’s syndrome (DS). A 25-year-old
man with DS was admitted because of a generalized tonic– clonic seizure and prolonged postictal period. Cerebral magnetic
resonance imaging (MRI) and MR venography revealed CVT. No particular cause of the thrombosis was identified. CVT may
be an unusual cause of stroke in DS. © 2001 Elsevier Science B.V. All rights reserved.
Keywords: Down’s syndrome; Cerebral venous thrombosis; MRI

1. Introduction
The most common cardiovascular and gastrointestinal disorders in Down’s syndrome (DS) are congenital
heart disease (atrioventricular canal and ventricular
septal defects), bowel atresias and Hirschsprung’s disease [1]. In recent years, several reports have suggested
that children with DS can also develop Moyamoya
vasculopathy [2]. The association of cerebral venous
thrombosis (CVT) with a variety of pathological states
is well established [3 – 5]. No link between CVT and DS
has yet been defined. We present the first reported case
of an adult with DS who exhibited laboratory and
clinical findings that were consistent with CVT.

2. Case report
A 25-year-old man with DS was admitted after suffering a generalized tonic – clonic seizure and prolonged
postictal period. He had no history of seizures, toxic
exposure or any systemic infection. His past medical
history was unremarkable and he was not on any
* Corresponding author. Tel.: + 90-232-343-0174.
E-mail address: starlaci@hotmail.com (S. Tarlaci).

medication. There was no family history of cerebrovascular or thromboembolic disorders. No other risk factors for venous sinus thrombosis such as head injury,
otitis media, dehydration were identified. Initial physical examination was normal except for postictal confusion. The optic disks and retinae were normal in
appearance. The blood pressure was 130/85 mmHg, the
pulse rate was 76 per min and rhythmic. The body
temperature was also normal. Ear nose and throat
(ENT) examination was normal.
Complete blood count, liver function tests, serum
sodium and osmolality, chest X-ray, antinuclear antibody and rheumatoid factor levels, serum protein electrophoresis, VDRL, serum IgG, IgA and IgM, C3, C4
and antiphospholipid antibody levels were all within
normal ranges, except for erythrocyte sedimentation
rate (Westergren) of 50 mm/h. Coagulation and thrombotic screens (lupus anticoagulant, prothrombin time,
partial thromboplastin time, protein S, protein C, factor V Leiden and antithrombin III) were also normal.
Thyroid function tests, echocardiography and electrocardiogram did not reveal any pathology. Cerebrospinal fluid was clear with normal opening pressure.
Cranial computed tomography with and without contrast was normal. Family history for venous thromboembolism was negative.

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243

Treatment was initiated with continuous intravenous
high dose heparin for CVT and phenytoin for seizure
control. He was later put on oral anticoagulation (INR
2.5). The left sided weakness moderately improved in
the following 10 days. His neurological recovery was
complete after 6-months on follow-up assessment and
the control magnetic resonance imaging (MRI) showed
that the old venous thrombosis was completely replaced
by signs of recanalization on both the posterior part of
sagittal and the right transverse sinuses.

3. Discussion

Fig. 1. T1-weighted coronal MRI image demonstrates a hyperintense
signal of subacute thrombus within the right transverse and superior
sagittal sinuses and an isointense signal in the left transverse sinus
(normal flow void in the left transverse sinus).

One day after his admission to hospital, his muscle
strength was moderately reduced on the left side and
then he developed a progressive weakness of the left
arm (1/5) and leg (2/5), and the left plantar response
became extensor. He became somnolent and had two
generalized tonic–clonic epileptic seizures during the
second day of admission. Cranial magnetic resonance
(MR) revealed hyperintense lesions in both frontal regions indicating venous hemorrhage on T2-weighted
images. T1-weighted images demonstrated a hyperintense signal associated with subacute thrombosis within
the right transverse and posterior part of the sagittal
sinus (Fig. 1), subsequently confirmed by MR venography (Fig. 2).

Fig. 2. MR venography demonstrates the thrombosis (void signal)
within the right transverse and sigmoid sinuses. Note the normal flow
in the left transverse and sigmoid sinuses.

Patients with DS appear to be predisposed to strokes
from emboli as a result of congenital heart disease [1].
Strokes in children with DS may also occur as a
consequence of Moyamoya vasculopathy [2]. Moyamoya in a child with DS is frequently accompanied by
manifestations of ischemia; cerebral hemorrhage is unusual in patients younger than 15 years of age.
CVT has been well documented in children and
adults in association with a variety of other diseases [5].
However, there have been no previous reports of CVT
in patients with DS. Causes of CVT include six general
categories, blood disorders (disorders of coagulation
and thrombolytic proteins, of red blood cells or of
platelets), infection, inflammatory disorders, structural
damage to venous sinuses from local trauma or adjacent lesions, miscellaneous, and finally, idiopathic [5].
Activated protein C resistance due to factor V Leiden
has recently been established as an important risk factor for CVT [4]. However, in 20–35% of cases, no cause
could be identified.
The mechanism underlying the onset of CVT in DS is
unclear. However, there are some commonly encountered pathologies in DS one or several of which may be
responsible for the development of CVT in the present
patient. Children with DS have an 18–20-fold increased
incidence of leukemia [6]. Hearing loss is another common problem in DS, possibly related to the increased
incidence of undiagnosed otitis media in this population. One can, therefore, speculate that patients with
DS may carry a risk for developing CVT due to
leukemia or otitis media. Furthermore, DS also appears
to have a relationship with autoimmune disorders. It
has been shown that child with trisomy 21 affected by
Moyamoya and Graves’ disease, associated with antithyroid microsome antibodies and antiphospholipid
antibodies [7,8]. Antiphospholipid antibodies are
known to be related with increased risk of venous and
arterial thrombotic events, including CVT [8,9]. However, in our patient there was no evidence for the
presence of any of these pathologies. Therefore, none of
these reported associations appear to be a responsible
factor for the development of CVT in this patient.

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S. Tarlaci, A. Sagduyu / Clinical Neurology and Neurosurgery 103 (2001) 242–244

Hyperhomocysteinemia are associated with increased
risk of stroke, cardiovascular disease, and venous
thrombosis. Cerebrovascular manifestations of hyperhomocysteinemia are primarily those of ischemic stroke
or CVT. The most frequent cause of severe hyperhomocysteinemia is homozygous deficiency of cystathionine
b-synthase. Kraus et al. [10] demonstrated that mean
activity of cystathionine b-synthase is 166% in cultured
fibroblasts from DS patients compared with controls.
Indeed, arteriosclerosis and CVT were rare in DS [11].
The clinical presentation of the present patient, according to our knowledge as being the first reported
case, suggests that CVT can develop in an adult with
trisomy 21 syndrome. Therefore, despite its rarity, CVT
should be considered among the unusual causes of
stroke in DS. Consequently, we suggest that CVT
should be kept in mind for the differential diagnosis of
stroke in DS, because of the fact that the prognosis of
treated CVT patients is considerably favorable [5].
Acknowledgements
Authors thank to Bulent Turman, for his review of
the paper.
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