Spontaneous cerebral haemorrhage without hypertension in non-mosaic 45X Turner’s syndrome 341

cord compression except for an MRI with brief case description in
the review by Pfister et al.1 The respiratory arrest that is said to
accompany acute tonsillar herniation was obviated in our patient
by the preceding mechanical ventilation.
The quadriplegia in our patient was associated with a prolonged
flaccid state and areflexia, a feature commented on in other cases.
The main differential diagnostic consideration was ‘critical illness
polyneuropathy.’ However, the minor motor nerve conduction
abnormalities were not consistent with a neuropathetic or
myopathic illness of this degree of severity. Although the process
was associated with persistently absent F-waves that are typical of
polyradiculopathy, we interpreted this finding as a physiologic
reflection of suprasegmental damage to motor tracts that corresponded to spinal shock. Transection of the corticospinal tracts
probably occurred in the region of the decussation within the
foramen magnum and the sensory level indicated an upper level of
damage just below the foramen magnum and sparing the spinal
trigeminal tracts.
In some children, herniation has been thought to have a
temporal relationship to lumbar puncture,5 but others disagree.6
Many papers fail to distinguish between transtentorial and transforaminal magnum herniations, making interpretation difficult.
Even the term ‘coning’ is used ambiguously in this literature. We
are uncertain of the role played by lumbar puncture in the descent
of the tonsils in our case, but ICP was greatly elevated when first
measured and a contribution from lumbar puncture was possible,
though not necessary. Even the risk of tonsillar herniation certainly
does not obviate lumbar puncture in these circumstances, but the
appearance of flaccid quadriplegia soon after the procedure might
justify decompression at the foramen magnum or aggressive
medical treatment of brain swelling.
REFERENCES
1.

2.
3.
4.
5.
6.

Pfister HW, Feiden W, Einhaupl KM. Spectrum of clinical complications
during bacterial meningitis in adults: results of a prospective clinical study.
Arch Neurol 1993; 50: 575–581.
Norman MG. Respiratory arrest and cervical spinal cord infarction following
lumbar puncture in meningitis. Can J Neurol Sci 1982; 9: 443–447.
Verghote M, Rousseau E, Geoffroy G. Quadriplegia after pneumococcal
meningitis. Ped Infect Dis 1985; 4: 559.
Haupt HM, Kurlinski JP, Barnett NK, et al. Infarction of the spinal cord as a
complication of pneumococcal meningitis. J Neurosurg 1981; 55: 121–123.
Rennick G, Shann F, de Campo J. Cerebral herniation during bacterial
meningitis in children. BMJ 1993; 306: 953–955.
Jones SW, Webb D. Cerebral herniation in bacterial meningitis. BMJ 1993;
306: 1413.

with Turner’s syndrome before. In a 51 year old female patient with
non-mosaic Turner’s syndrome, acute aphasia and right-sided
hemiplegia occurred, due to left-sided basal ganglia haemorrhage.
The history for hypertension was negative, blood pressure was
normal throughout hospitalisation as well as during 24 h monitoring,
and all tests for secondary hypertension were negative. There was
no indication of arteriosclerosis or a clotting defect. Since there were
hypermobile joints, hyperextensible skin and ectatic ascending
aorta and brachiocephalic trunk on angiography, a general
connective tissue defect was assumed, making arteries more
vulnerable to physiologically increased blood pressure and rupture
of intracerebral arteries with consecutive bleeding. © 2000 Harcourt
Publishers Ltd
Keywords: Turner’s syndrome, chromosomal aberrations, cerebral
bleeding, angiography
Journal of Clinical Neuroscience (2000) 7 (4), 341–343 © 2000 Harcourt Publishers Ltd
DOI: 10.1054/ jocn.1999.0237, available online at http://www.idealibrary.com on

Received 22 March 1999
Accepted 21 May 1999
Correspondence to: Dr J. Finsterer, Postfach 348, 1180 Vienna, Austria
Tel.: +43–1–88000–260; Fax: +43–1–4781711; E-mail:
fij@2nr.nkr.magwien.gv.at

INTRODUCTION
Vascular abnormalities are a common finding in Turner’s
syndrome and comprise aortic dilatation, aortic dissection, aortic
coarctation, aneurysms, haemangiomas, arterio venous malformations and teleangiectasias.1,2,3 Connective tissue defects are responsible for these vascular abnormalities.4 The presence of a general
connective tissue defect in these patients is supported by the
following case of spontaneous cerebral haemorrhage without
hypertension in a patient with Turner’s syndrome.
CASE REPORT
A 51 year old female paediatrician was admitted because of acute
onset right-sided hemiplegia and aphasia. On admission, blood
pressure was 175/100 and 130/80, respectively. The electrocardiogram demonstrated sinus rhythm, tall S-waves and biphasic
T-waves in the right precordial leads. Coagulation function tests
were normal. The initial computed tomography (CT) scan of the
brain showed a left basal ganglia haemorrhage with compression of
the left lateral ventricle and a midline shift of 7 mm to the right
(Fig. 1) without indication for neurosurgical intervention.

Spontaneous cerebral
haemorrhage without
hypertension in nonmosaic 45X TurnerÕs
syndrome
Josef Finsterer1 MD PhD, Max Zartl1 MD, Peter Samec2 MD
1

Neurological Department, Neurological Hospital Rosenhügel, Vienna, Austria
Department of Radiology, Neurological Hospital Rosenhügel, Vienna,
Austria
2

Summary
Cerebral
haemorrhage
without
hypertension,
arteriosclerosis or clotting defect has not been reported in patients

© 2000 Harcourt Publishers Ltd

Fig. 1 CT scan of the brain on admission shows left sided intracerebral
haemorrhage with perifocal oedema.

Journal of Clinical Neuroscience (2000) 7(4), 330–345

342 Finsterer et al.

Transthoracic echocardiography demonstrated severe aortic valve
stenosis with a valve area of 0.7 cm2, slight aortic insufficiency,
moderate hypertrophy of the left ventricle and interventricular
septum (15 mm) but normal systolic and diastolic function.
Cerebral angiography, 3 weeks after the bleeding, showed elongation of the aorta, the cervicobrachial trunk, the vertebral arteries
and the basilary artery and dilatation of the ascending aorta (Fig.
2). Transcranial Doppler sonography was normal. The karyotype
on cytogenetic analysis of blood lymphocytes and skin fibroblasts
showed a complete monosomy X (45, X).
DISCUSSION

Fig. 2 Digital subtraction angiography of the aorta shows elongation of the
aorta, the common trunk, the vertebral arteries and the space basilar artery,
dilatation of the ascending aorta and a slight stenosis between the left
common carotid artery and the left subclavian artery just before the isthmus.

Measuring the blood pressure regularly, the patient had no history
of hypertension and all other risk factors for cerebral bleeding were
negative. The patient was not taking any medication before admission. Past medical history was remarkable for Turner’s syndrome
diagnosed upon typical morphological features, including short
stature, delayed menarche, irregular menses, secondary amenorrhoea since age 20 years and cytogenetic investigations. On clinical
neurological investigation, hemianopsia to the right, paresis of
vertical gaze and horizontal gaze to the right, central facial palsy,
sensory-motor aphasia, right-sided hemiplegia, hemihypaesthesia,
apraxia, exaggerated deep tendon reflexes and positive pyramidal
signs were found. Phenotypic features attributable to Turner’s
syndrome included short stature (146 cm), hypertelorism, reduced
mandible, low set ears, low nuchal hair line, broad neck, pterygium
colli, shield chest with widely spaced nipples, hyperextensible skin,
hypermobile joints, bilateral bradydaktylia of the 4th and 5th
fingers and toes and pretibial hypertrichosis.
Except for one occasion after emotional stress, blood pressure
was within the normal range throughout her hospitalisation.
Twenty-four hour blood pressure monitoring revealed no abnormality. Thyroid function tests were normal. Except for slightly
elevated vanilylmandelic acid, the other urine catecholamine
levels were normal, as well as serum lipids, sexual hormone levels
and all clotting tests. Optic fundus investigation was not indicative
of hypertensive disease. A cerebral magnetic resonance imaging
(MRI), 2 months after the bleeding, showed advanced resorption
of the haemorrhage but no visible developmental abnormality of
the brain, arteriovenous malformation, telangiectasia or aneurysm.

Journal of Clinical Neuroscience (2000) 7(4), 330–345

The most common causes for cerebral haemorrhage are hypertension, a clotting defect, atherosclerosis or a general connective
tissue defect. Although arterial hypertension was made responsible for cerebral bleeding in the only previously reported patient
with Turner’s syndrome,5 there are several arguments against
hypertension as the cause in our patient: 1) the history of hypertension was negative; 2) except for the very first measurement and
one situation of emotional stress, blood pressure was normal in the
acute phase of the bleeding and during rehabilitation; 3) 24 h
blood pressure monitoring was normal; 4) all investigations for
secondary hypertension were negative; 5) the patient did not need
antihypertensive drugs, neither before nor during hospitalisation
6) fundoscopy was normal and 7) the patient had severe aortic
valve stenosis, which is associated with hypotension rather than
hypertension. Despite these arguments, it cannot be definitively
excluded that occasional episodes of high blood pressure occurred
which remained undetected to the applied blood pressure monitoring. Arguments for the presence of hypertension in our patient
are the location of the bleeding and the moderate left ventricular
hypertrophy, which could also be due to the aortic valve stenosis.
Concerning other aetiologies, all clotting tests were normal and
there was no evidence of atherosclerosis. No signs of atheromatosis could be found on cerebral angiography and the patient
did not complain of angina pectoris, claudicatio spinalis or intermittens. Risk factors for atheroma like diabetes, hypertension and
hyperlipidaemia were all negative.
The assumption of a general connective tissue defect in patients
with Turner’s syndrome is based on the following findings: 1) the
incidence of vascular abnormalities, attributable to connective
tissue defects, like aortic dilatation, aortic dissection, aneurysms,
arteriovenous malformation and teleangiectasias, is higher in
patients with Turner’s syndrome than normal; 2) there are Turner’s
phenotypes that resemble Ehlers-Danlos and Marfan syndrome3,6
and 3) cystic media necrosis may be occasionally found in some
patients with Turner’s syndrome.4 The basic abnormality, made
responsible for the assumed connective tissue defect, is a general
elastic fibre disruption.4 Such a defect may favour rupture of
intracerebral arteries already at physiologically increased blood
pressure. Arguments against a general connective tissue defect in
our patient are that Ehlers-Danlos syndrome is more frequently
associated with carotid artery dissection and subarachnoidal haemorrhage than with intracerebral haemorrhage, and that no
aneurysms, ateriovenous malformations or teleangiectasias were
found on cerebral MRI and angiography. However, patients with
Turner’s syndrome should carefully monitor their blood pressure
and should avoid emotional stress, competitive sports and sports
associated with the risk of trauma.3,7
It is concluded that spontaneous intracerebral haemorrhage may
occur in patients with non-mosaic Turner’s syndrome without
hypertension. In such patients a general connective tissue defect,
also affecting the cerebral arteries, could be responsible for arterial
rupture already at physiologically increased blood pressure.

© 2000 Harcourt Publishers Ltd

Facial pain as a presenting feature of intracerebral haemorrhage 343

REFERENCES
1
2
3
4

5
6

7

Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J
Clin Epidemiol 1998; 51: 147–58.
Rosen KM, Sirota DK, Marinoff SC. Gastrointestinal bleeding in Turner’s
syndrome. Ann Int Med 1967: 145–50.
Buheitel G, Singer H, Hofbeck M. Aortic aneurysmas in Ullrich-Turner
syndrome. Klin Pediatr 1996; 208: 42–45.
Apostolopoulos TD, Kyriakidis MK, Kitsiou SA, Galla-Voumvouraki AD,
Tsezou AN, Toutouzas PK. 45, X Turner syndrome with normal ovarial
function and multiple malformations of the aorta. Postgrad Med J 1994; 70:
838–40.
Felsch G, Muller S, Ehrhart G. Massive brain hemorrhage in Ullrich-Turner
syndrome with aortic isthmus stenosis. Med Klin 1966; 61: 177–78.
Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations:
deduction of the principal factors involved in the development of clinical
features. Hum Genet 1995; 95: 607–29.
Sybert VP. Cardiovascular malformations and complications in Turner
syndrome. Pediatrics 1998; 101: 111–17.

Facial pain as a presenting
feature of intracerebral
haemorrhage
Daniel F. Ghougassian MBBS FRACP, Roy G. Beran MD
FRACP

Department of Neurology, Liverpool Hospital, PO Box 103, Liverpool, NSW
2170, Australia.

Summary A literature review from 1966 using Medline with
keywords ‘cerebral haemorrhage’ and ‘facial pain’ failed to reveal
any cases in which facial pain was the initial feature of intracranial
haemorrhage. The following case describes ipsilateral facial pain
which is previously undescribed as a presentation of intracranial
bleeding.
A 53 year old female who was previously well, with no significant
history of headache, developed right facial pain from the orbit to the
maxilla. Ten to 15 min later she developed nausea and vomiting with
unsteadiness and confusion. She had difficulty with left-hand fine
finger movements, with normal sensation and reflexes but an
extensor plantar response on the left. Facial pain persisted for 3
days. Initial imaging revealed a 4 × 3 cm right temporal lobe
haemorrhage with mass effect and oedema extending into the
subarachnoid space. Angiogram revealed a right temporal lobe
arteriovenous malformation.
The basis of the pain remains speculative but includes sensation
from the torn vessel wall being referred to the face and
subarachnoid blood irritation of the meninges in the middle cranial
fossa. Another possibility is irritation of somatosensory cortex II, but
why this should result in only ipsilateral pain is unclear.
Facial pain should be an alerting symptom to the neurologist
when it appears with no apparent cause. © 2000 Harcourt
Publishers Ltd
Keywords: facial pain, stroke, presentation, intracerebral
haemorrhage
Journal of Clinical Neuroscience (2000) 7 (4), 343–345 © 2000 Harcourt Publishers Ltd
DOI: 10.1054/ jocn.1999.0237, available online at http://www.idealibrary.com on

© 2000 Harcourt Publishers Ltd

Received 15 March 1999
Accepted 16 June1999
Correspondence to: Roy G Beran. Tel.: +61 2 9415 3800; Fax: +61 2 9413
1353; E-mail: Roy.Beran@unsw.edu.au

INTRODUCTION
Acute intracranial haemorrhage (ICH) accounts for 15–45% of
cerebrovascular accidents worldwide.1 This often presents catastrophically with major symptoms at onset, including severe
headache, loss of consciousness or functional limb deficit. The
onset is usually not instantaneous but rather a smooth crescendo of
symptoms and rapid plateau.2 Pathologically and often clinically,
intracranial haemorrhage can be further subdivided into intraparenchymal and subarachnoid haemorrhage. Intraparenchymal
haemorrhage accounts for approximately 10% of first ever strokes
in the West, and subarachnoid haemorrhage provides for the
remaining 5% of such strokes. Intraparenchymal haemorrhage can
be classified as primary (de novo) or secondary (occurring in an
area of previous infarction).
The most common site of occurrence of intraparenchymal
haemorrhage is in the basal ganglia, with the next most frequent
site being intralobar followed by brainstem bleeding. Once
bleeding has occurred, extension through the cerebrum into the
subarachnoid space or ventricles is possible.1 Pathologically, lipohyalinosis of the smaller blood vessels or amyloid change may be
noted; often, however, the bleed results in obliteration of the
underlying vessel abnormality and it is difficult to ascribe the
exact cause of the haemorrhage.1
Clinically, smaller, less acute ICH may present with milder
symptoms, such as altered level of consciousness, confusion or
decline in rehabilitation capability during recovery from ischaemic
stroke whilst the patient is on anticoagulation.3
Facial pain is not described as a common presentation of ICH.
Review of the literature via Medline back to 1966 revealed no
previous reported cases of such a presentation. We report a case of
acute ICH with the first symptom being facial pain. Speculation as
to its pathophysiology will be outlined.

CASE PRESENTATION
A 53 year old Caucasian female who was previously well, developed acute onset facial pain extending from the right orbit to the
maxilla. The pain started suddenly and rapidly plateaued over a
few seconds. The pain was then at a peak and remained stable. She
described the pain as a toothache involving the right side of the
face. Within 10 minutes, she started to vomit and on alighting from
the car she was noted to be ataxic. Her level of consciousness
declined prior to attending the Emergency Department.
On presentation to hospital, she was noted to be in atrial fibrillation, had mild pyrexia and difficulty communicating. Though able
to obey commands, she had difficulty with fine finger movements
on the left. She had normal sensation and was normoreflexic with
an extensor left plantar response.
Facial sensation could not be adequately assessed and it was
impossible to define an anatomical localisation to her pain with no
demonstrable sensory loss.
Computed tomography (CT) scan imaging of the brain revealed
a 4 × 3 cm right temporal lobe haemorrhage with some mass effect
and oedema. There was also some blood noted in the subarachnoid
space in the middle cranial fossa (Figs 1,2). Symptomatically, she
continued to complain of right facial pain for 3 days. The pain was
boring in nature and not limited to any subdivision of the trigem-

Journal of Clinical Neuroscience (2000) 7(4), 330–345