Turner Syndrome and Occlusion of
the Internal Carotid Artery
Hironori Komori, MD; Toyojiro Matsuishi, MD; Toshi Abe, MD; Yoichi Nagata, MD;
Etsuo Ohtaki, MD; Kazuyuki Kojima, MD; Shigenori Yukizane, MD
Abstract
A 2-year-old girl with Turner syndrome was admitted with left hemiplegia and left facial palsy. Serial cranial computed
tomographic scan demonstrated multiple cerebral infarctions in the right putamen and right medial cortical areas. Single
photon emission computed tomographic scan revealed hypoperfusion from the right frontal to the right temporal area.
Right carotid angiography showed narrowing and occlusion of the right internal carotid artery at the sphenoidal portion.
Collateral circulation was not detected between the external and internal carotid arteries. Left carotid angiography revealed that the left anterior artery was narrow, and that the left internal carotid artery provided blood to the right internal
carotid artery through the anterior communicating artery. These findings suggested that the cerebrovascular abnormality
might be due to congenital hypoplasia of arteries in this patient. The unusual combination of cerebral infarction and
Turner syndrome was reported. (
J Child Neurol 1993;8:412-415).

characterized by a
webbed neck, cubitus valgus, short stature,
and the chromosomal abnormalities 45,X and 45,X/
46,XY. It is well known that some Turner syndrome
patients have associated cardiovascular malformations. Stenosis of the aorta and atresia of the aortic
valve are common. In contrast, there have only
been a few reports of central nervous system involvement ; cortical dysplasia,2 Dandy-Walker anomaly&dquo;3 vein of Galen aneurySM&dquo;4 agenesis of the corpus callosum, 5,6 cavernous hemangioma,’ fibromuscular dysplasia,8 and heterotopic brain tissue in the
orbit.9 Here we report the first case of Turner syndrome associated with occlusion of the right internal
carotid artery.

Turner

syndrome

is

Case Report

.

A 2-year-old girl was admitted to our hospital because of
the sudden onset of left hemiparesis.
She had experienced fetal distress, and low-set ears
were noted at birth. She was admitted to our neonatal intensive care unit for observation of the clinical course and
investigation of minor anomalies. Chromosome analysis re-

Received August 19, 1992. Received revised Feb 17, 1993. Ac-

cepted for publication Feb 24, 1993.

From the Department of Pediatrics and Child Health (Drs
Komori, Matsuishi, Nagata, Ohtaki, and Yukizane) and the De-

partment of Radiology (Drs Abe and Kojima), Kurume University
School of Medicine, Kurume, Japan.
Address correspondence to Dr Hironori Komori, Department
of Pediatrics and Child Health, Kurume University School of
Medicine, 67 Asahi-machi, Kurume, Fukuoka 830, Japan.

vealed the 45,X/46,XX +mar -mosaic type of Turner syndrome. On ultrasonographic examination, there were no
remarkable findings in the central nervous system or cardiovascular regions. Although transient hyponatremia and
hypoglycemia were present, she had no neurologic sequelae at discharge after 7 days. Her developmental psychomotor milestones were normal until 2 years of age, except for a slight delay of expressive language. She showed
a high serum
follicle-stimulating hormone level (47.50 mIU/
mL) and short stature, due to Turner syndrome.
Six hours before her admission to our hospital, left
hemiparesis and irritability were noted. On admission, her
level of consciousness was clear and her blood pressure
was 90/50 mm Hg, with no difference between the legs and
arms, or between the right and left sides. Her body temperature, respiratory rate, and heart rate were normal. Her
weight was 8.8 kg (-1.5 SD), and her height was 74 cm
(-3.5 SD). On neurologic examination, left hemiparesis
without cranial nerve palsy was noted. Her sensory function was intact. Cranial computed tomographic (CT) scan
the day after admission revealed marked diffuse cerebral
atrophy in the right cerebral hemisphere (Figure lA and B).
On the second day after admission, left facial palsy
appeared. CT scans on the 5th day after admission showed
a low-density area in the right putamen in both the precontrast and postcontrast images (Figure 1C and D). CT scans
on the 19th day revealed that her cerebral atrophy was progressive, and the insular and medial frontal cortex showed
gyral pattern enhancement with contrast (Figure 1E and F).
During the acute phase, electroencephalography revealed low-voltage activities from the right frontal to the
right temporal region, and spindle wave activity was not
seen in the right hemisphere. Paroxysmal discharges were
not detected.
Magnetic resonance imaging (MRI) scans on the 12th
day showed slightly high intensity in the right putamen on
a T2-weighted image (Figure 2A). This area was enhanced
in a Ti-weighted image with gadolinium-diethylenetri-

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FIGURE 1
The cranial plane CT scan (A) and enhanced CT scan (B) obtained on admission revealed marked cerebral atrophy from the right frontal to the right temporal region. The
cranial plane CT scan (C) and enhanced CT scan (D) on the 5th day after admission
showed a low-density area in the putamen. The cranial plane CT scan (E) on the 19th
day showed that the atrophy from the right frontal to the right temporal region was
progressive, and the parietal region was newly enhanced (F) with contrast media.
amine pentaacetic acid (DTPA) (Figure 2B). In coronal sections using the field-echo technique, the right internal carotid and middle cerebral arteries were observed to be very
narrow, compared with those on the left side (Figure 2C).
Single photon emission computed tomographic
(SPECT) scan revealed an area of hypoperfusion from the
right frontal to the temporal region.
Cerebral angiography was performed on the 35th day
after admission (Figure 3). The right internal carotid artery
was narrow from its origin and occluded at the supraclinoid portion, which was just distal from the origin of the
ophthalmic artery. There was no collateral circulation from
the external carotid artery (Figure 3A). The left internal carotid artery provided blood to the territory of the right internal carotid artery through the anterior communicating
artery. The left anterior cerebral artery was narrow, and
poor filling with contrast medium was noted (Figure 3B).
The right posterior cerebral artery provided blood through
the posterior communicating artery (Figure 3C). Collateral
circulation through the leptomeningeal anastomoses from
the right posterior cerebral artery to the territory of the

right middle cerebral artery and from the left middle cerebral artery to the territory of the left anterior cerebral artery
was demonstrated.
We made a diagnosis of multiple cerebral infarctions
based on the occlusion of the right internal carotid artery
and the narrowing of the left anterior cerebral artery. There
was no neurologic sign due to the left frontal lobe.
This patient exhibited no coagulopathy, hyperlipidemia, or thrombosis. She recovered from the left facial palsy
completely, but the left hemiplegia remained at discharge.
On follow-up, the left hemiplegia was improved, and she
had experienced no more intellectual deterioration.

Discussion
This is the first report of a case of Turner syndrome
with occlusion of the right internal carotid artery
and narrowing of the left anterior cerebral artery.
Miyake et al8 reported a case of Turner syn-

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FIGURE 2
MRI scan on the 12th day after admission. (A) The right putamen showed slightly high
intensity in an axial T2-weighted image. (B) This area was enhanced in a coronal T1weighted image with gadolinium-DTPA. (C) In a coronal section using the field-echo

technique, the right internal carotid artery was observed to be very narrow, compared
with that on the left side, but there was no evidence of moyamoya vessels.

drome with fibromuscular dysplasia. Angiography
of the fibromuscular dysplasia showed narrowing
with an irregular lumen, the so-called string of
beads. In our patient, the lumen of the cerebral artery was narrow with a smooth lumen. Therefore,
we think that the etiology of the narrowing of the

cerebral artery in our patient might not be due to fibromuscular dysplasia.
There is a high incidence of moyamoya disease in
Japan. This disease is known to be progressive, and
often consists of a bilateral occlusive disease that starts
at the supraclinoid internal carotid arteries and then

FIGURE 3
Cerebral angiography on the 35th day after admission. (A) Lateral view of the right internal carotid artery showed that it was narrow and occluded at the sphenoidal portion
(arrow). Collateral circulation was not detected between the external and internal carotid arteries. (B) Frontal view showed that the left anterior artery was also narrow, and
the left internal carotid artery provided blood to the right internal carotid artery through
the anterior communicating artery. (C) Lateral view on vertebral angiography showed
that the posterior cerebral artery provided blood through the posterior communicating

artery.
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>
.

.

spreads to involve the trunk of the anterior and
middle cerebral arteries and, finally, the basilar artery.l° Our patient did not show so-called moyamoya
vessels, which are fine netlike collaterals. However,
we could not exclude the possibility of moyamoya
disease, because occlusion of the cerebral artery is
only seen in the early stage of moyamoya disease.
Solomon et alll investigated cases of acute
hemiplegia and divided them into five categories according to the angiographic findings. Their second
group involved basal vascular occlusive disease
without telangiectasia, narrowing or occlusion of the
supraclinoid segment of the internal carotid, the
middle cerebral, or the anterior cerebral arteries, or
their large branches being seen without associated
telangiectasia. It is almost always unilateral, and our
patient fits into this category.
Solomon et all’ and Hilal et al 12 investigated the
clinical status of acute hemiplegia. The age of onset
in group 2 patients was more than 7 years, that is,
they are older than our patient. This may be due to
the severity and site of the cerebral vascular occlusion.
CT scan on admission showed marked brain atrophy from the frontal to the temporal region (Figure 1A). The blood supply was insufficient for right
hemispheric brain metabolism. This was confirmed
by SPECT scan. Clark et al 13 investigated a case of
Turner syndrome by means of positron emission tomography with [18F]fluorodeoxyglucose and found
that the regional cerebral glucose metabolism in
Turner syndrome was more increased in the frontal
than in the parietal region, whereas that in normal
subjects was conversely more increased in the parietal than in the frontal region. In general, the higher
glucose metabolism is, the more blood is needed.
Therefore, we think that the occlusion or narrowing
of the right internal carotid artery might have existed long before our patient had this episode, and
the right hemispheric brain atrophy might have subclinically spread from the frontal region, which is a
neurologically silent area.
The etiology of basal vascular occlusion varies; it
can be caused by arteritis 14 or dissecting aneurysm
due to a congenital defect of the vessel walls.15 Because the narrowing of the vessels in our patient involved very wide areas, we think that the cerebrovascular abnormality might be due to congenital hypoplasia of arteries in this case.
Very few neuropathologic studies of Turner syndrome have been reported. Brun and Skold2 reported a case of Turner syndrome with a congenital
malformation classified as slight cortical dysplasia

and gray-matter heterotopias, which were found on
operation for a medulloblastoma. They suggested
that the constant appearance of an extracranial malformation often occurs together with central nervous
system malformations, and they proposed the hypothesis that in a certain percentage of cases, a central nervous system malformation may be a part of
the syndrome. It is uncertain whether occlusion of
the internal carotid artery is an incidental event

caused by an inflammatory or other etiologic process, or whether it is a closely related part of the associated malformation in Turner syndrome. We
think that more cerebrovascular abnormalities will
be found in studies focusing on fetal neuropathology, because the fetal mortality rate is high in
Turner syndrome. 16
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