Download Unpredictable Postoperative Global Cerebral Infarction in the

online © ML Comm
www.jkns.or.kr
http://dx.doi.org/10.3340/jkns.2011.50.3.256
Print ISSN 2005-3711 On-line ISSN 1598-7876
Copyright © 2011 The Korean Neurosurgical Society
J Korean Neurosurg Soc 50 : 256-259, 2011
Case Report
Unpredictable Postoperative Global Cerebral Infarction
in the Patient of Williams Syndrome Accompanying
Moyamoya Disease
Yang-Won Sim, M.D., Mou-Seop Lee, M.D., Young-Gyu Kim, M.D., Dong-Ho Kim, M.D.
Department of Neurosurgery, Chungbuk National University College of Medicine, Chungbuk, Korea
We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To
our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with
right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI
showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at
postoperative third day, without any unusual predictive abnormal findings the patient’s pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of
labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient
monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The
possibility of unpredictable postoperative ischemic complication should be kept in mind.
Key Words : Moyamoya disease · Williams syndrome · Postoperative infarction · Ischemic complication.
INTRODUCTION
Williams syndrome is a rare neurodevelopmental disorder
caused by a deletion of about 26 genes from the long arm of
chromosome 712) It is known to occur approximately 1 in 10,000
births5). It is characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers, developmental delay coupled
with unusual language skills, and cardiovascular problems such
as supravalvular aortic stenosis and transient hypercalcemia5,8,9).
In moyamoya disease, normocapnia, normotension, postoperative sedation and pain control are strictly controlled to prevent postoperative ischemic complications2,6,7,13). However,
postoperative ischemic complications sometimes occur despite
of maximum efforts to stabilize the hemodynamic states such
as above2,6,7,13).
Received : March 2, 2011 • Revised : May 19, 2011
Accepted : August 30, 2011
•Address for reprints : Mou-Seop Lee, M.D.
Department of Neurosurgery, College of Medicine and Medical Research Institute, Chungbuk National University, 410 Seongbong-ro, Heungdeok-gu, Cheongju 361-763, Korea
Tel : +82-43-269-6378, Fax : +82-43-273-1614
E-mail : [email protected]
•
•
We report a very rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral
infarction occurred unpredictably, despite of conventional postoperative management of moyamoya disease.
CASE REPORT
A 9-year-old boy was presented with right hemiparesis after
the second operation for coartation of aorta. The patient was
diagnosed as Williams syndrome at the age of one year due to
supravalvular aortic stenosis. Chromosome study by FISH
(Fluorescence In Situ Hybridization) confirmed that the deletion of genetic material from the region q 11.23 of chromosome
7. Also, he had a family history that his grandfather had been
diagnosed as Williams syndrome. He underwent patch dilatation of aortic valve. After the surgery, he was followed up
through pediatric department. Two months prior to this admission, he underwent second surgery for coarctation of aorta.
Four days after that surgery, he suddenly experienced right
hemiparesis.
Brain MR images showed infarction involving left frontal
lobe, left putamen, right caudate nucleus and right frontal periventricular white matter (Fig. 1) Cerebral angiogram showed
256
Unpredictable Postoperative Infarction in Moyamoya Disease | YW Sim, et al.
severe stenosis of bilateral internal carotid arteries and moyamoya vessels. (Fig. 2) Brain SPECT study at resting state showed
decreased cerebral perfusion in the involved right periventricular white matter, left frontal cortex and left basal ganglia. And,
brain SPECT study by Diamox injection showed that more decreased cerebral perfusion in the same lesions (Fig. 3). For one
month after cardiac surgery, he experienced three recurrent attacks of right hemiparesis. Followed brain MRI showed newly
appeared cerebral infarction involving left frontal lobe.
Surgical intervention was considered to be necessary to prevent
development of additional cerebral infarction. Two months after
surgery for coarctation of aorta, we performed encephalo-duroarterio-synagiosis (EDAS) at the left temporal area and encephalo-galeo-synangiosis at the both frontal area successfully.
Postoperatively, the patient recovered well without neurological deterioration, and postoperative brain CT images revealed
small left frontal cortical infarction (Fig. 4). The patient’s clinical condition was same as preoperative status, but he was a little
bit irritable. For this reason, we sedated the patient slightly and
kept the blood pressures in normotensive state.
However, at postoperative third day, the patient’s pupils were
suddenly dilated without any unusual predictive abnormal findings. Brain CT performed one hour after the incident showed the
global cerebral infarction (Fig. 5).
The patient was not recovered and fell in brain death one
week later, despite of vigorous treatments.
A
B
Fig. 1. Four days after the surgery for coarctation of aorta, diffusion
weighted MR images (A) and ADC-MAP MR images (B) show that acute
infarction involving left frontal cortex, left putamen, right caudate nucleus and right frontal periventricular white matter.
A
B
C
D
DISCUSSION
Williams syndromes is caused by the deletion of genetic material from the region q 11.23 of chromosome 712). The deleted
region included more than 25 genes, and researchers believe
that the loss of several of these genes probably contributes to
the characteristic features of this disorder12). CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome5,9,12). Researchers have found that loss of the ELN gene, which codes for the
protein elastin, is associated with the connective tissue abnormalities and cardiovascular disease5,9,12).
Because of the multiple genes that are missing in people with
Williams syndrome, there are many effects on the cardiovascular abnormalities and brain.
Arterial narrowing may be isolated or may occur simultaneously in numerous locations, including the aortic arch, the descending aorta, pulmonary, coronary, renal, mesenteric, and intracranial arteries. In the literature reviews, brain MRI revealed
an overall 10 to 15% reduction in cerebral volume, with preserved cerebellar volume1,5,8,9,12).
To our knowledge, there was only one case report of moyamoya disease with Williams syndrome by the autopsy of the patient
who suddenly died due to bilateral intraventricular hemorrhage3).
In that first reported case, autopsy revealed an abnormal complicated cerebrovascular network in the cerebral arteries3). The nar-
Fig. 2. Right ICA angiogram (A and B), show that severe luminal narrowing at right ICA bifurcation site, severe stenosis at right M1 and complete occlusion at anterior cerebral artery (ACA). Also, angiography show
moyamoya vessels. Left ICA angiogram (C and D), show that complete
occlusion at distal ICA and retrograde filling of the ACA and middle cerebral artery (MCA) territories through left PCA. Moyamoya vessels are
shown, too.
rowed vessels of the circle of Willis showed intimal thickening
with an extremely wavy internal elastic lamina and marked
thinning of the media3).
Reports in the literature suggest that the histopathology of arterial stenosis associated with Williams syndrome are characterized by a prominent medial hyperplasia with variable degrees of intimal hyperplasia3,9). An increased intima-media
thickness of carotid arteries, consistent with a generalized elastin arteriopathy, is present in all cases3,5,9).
It is difficult to confirm the etiological relationship of postoperative global cerebral infarction between Williams syndrome
and moyamoya disease.
Despite the best efforts of neurosurgeons including measures
such as normocapnia, normotension, and proper postoperative
257
J Korean Neurosurg Soc 50 | September 2011
Right lateral view
3D Talairach cortical perfusion report
Anterior view
Superior view
Left lateral view
Posterior view
Interactive view-No cerebellum
Right lateral view
3D Talairach Inner structure perfusion report
Anterior view
Superior view
Left lateral view
Posterior view
Interactive view
A
B
Right lateral view
3D Talairach cortical perfusion report
Anterior view
Superior view
Left lateral view
Posterior view
Interactive view-No cerebellum
C
Right lateral view
3D Talairach Inner structure perfusion report
Anterior view
Superior view
Left lateral view
Posterior view
Interactive view
D
Fig. 3. Brain SPECT at resting state (A and B) shows decreased cerebral perfusion in the involved
right periventricular white matter, left frontal cortex and left basal ganglia. Brain SPECT study by
Diamox injection (C and D) shows that more decreased cerebral perfusion in the same lesions.
258
sedation, children with moyamoya disease can experience serious postoperative ischemic attacks2,13).
In fact, postoperative ischemic complications are closely related to hemodynamic instability in moyamoya disease. Many researchers have found that
several factors such as hypercapnia, hypocapnia, hypotension and inadequate
hematocrit level can increase the postoperative ischemic risks2,4,6,7,10,13).
The incidence of postoperative ischemic complications had been reported
to range from 3.7 to 22.2%2). For preventing these ischemic complications,
neurosurgeons have tried to maintain
sustained normocapnia [PaCO2 (35-45
mmHg)], normotension [MABP (100120 mmHg)], adequate hematocrit level (>30%) and postoperative sedation2,4,7,10,13).
As previously described, we performed
successful indirect revascularization surgery and kept sustained normocapnia,
normotension, adequate hematocrit level
and postoperative sedation due to irritability. The patient had favorable postoperative recovery, but the patient had
whole brain infarction of unknown
cause on the third day after the surgery.
The cause of unpredictable postoperative ischemia in this case is uncertain,
but, endovascular problems of Williams
syndrome such as medial and intimal
hyperplasia were thought to played some
roles in this incident. We thought that
this vascular abnormailty of Williams
syndrome could be correlated with hemodynamic instability. Postoperative
ischemic complication might be exacerbated by complex effects, between endovascular problems of Williams syndrome
and unstable hemodynamic state of
Moyamoya disease.
We thought that in this kind of labile
patient of moyamoya disease with Williams syndrome, postoperative sedation
should be done more cautiously
through strict patient monitoring such
as brain oximeter monitoring, frequent
examination of neurological state with
more shorter interval than usual. And,
postoperative patient monitoring such
Unpredictable Postoperative Infarction in Moyamoya Disease | YW Sim, et al.
as measurement of arterial blood pressure via an arterial catheter, measurement of cardiac filling pressures via a flow-directed
pulmonary artery catheter, and continuous assessment of arterial and mixed venous oxygen saturation via pulse oximetry
and an oximetric pulmonary artery catheter, are needed for stable hemodynamic state with regard to coartation of aorta17).
In reviewed literature, surgery within 6 weeks after the last
ischemic attack of infarction showed a higher incidence of
postoperative ischemic complications4). But, in this case, the patient experienced three recurrent attacks of right hemiparesis
for a one month after the cardiac surgery. Therefore, we thought
that early surgical intervention was inevitable to prevent development of additional cerebral infarction.
But in this labile patient who have cardiovascular abnormalities such as Williams syndrome, the surgeons should recognize
the possibility of these unpredictable postoperative ischemic
complications, and decide the revascularization surgery more
carefully with consideration of benefits and risks.
A
B
Fig. 4. The immediate postoperative (A and B), brain CT images show
newly appeared small low density lesion at left frontal cortex. The patient recovered well without neurologic deteriorations.
CONCLUSION
Williams syndrome is a rare disease which includes cerebrovascular abnormalities, and cardiovascular complications are
the major cause of death in patients with Williams syndrome.
Our case is second report for Williams syndrome accompanying moyamoya disease.
It is difficult to confirm the etiological relationship of unpredictable postoperative ischemic complication between Williams
syndrome and moyamoya disease.
But, we suggest that in this kind of labile patient of moyamoya disease, the perioperative treatment should be done more
carefully through more strict patient monitoring.
In treatment of moyamoya disease, preoperative detailed
evaluation for other combined cerebrovascular abnormalities
should be needed, because of the possibility of unpredictable
postoperative complications such as our case. In the clinical setting with the patient having other cerebrovascular abnormalities such as Williams syndrome, the neurosurgeons should
carefully consider the benefits and risks of surgery related to
these underlying problems. Also, when the revascularization
surgery in this kind of labile patient is decided, surgeons should
be more kept in mind for possibility of unpredictable postoperative complication than usual moyamoya patients.
• Acknowledgements
This work was supported by Chungbuk National University Grant in 2009.
References
1.Chapman CA, du Plessis A, Pober BR : Neurologic findings in children
and adults with Williams syndrome. J Child Neurol 11 : 63-65, 1996
2.Iwama T, Hashimoto N, Yonekawa Y : The relevance of hemodynamic
factors to perioperative ischemic complications in childhood moyamoya disease. Neurosurgery 38 : 1120-1125; discussion 1125-1126, 1996
3.Kawai M, Nishikawa T, Tanaka M, Ando A, Kasajima T, Higa T, et al. :
A
B
Fig. 5. At postoperative third day, the patient’s pupils were suddenly full
dilated. One hour after the incident, brain CT images (A and B) show diffuse low density at bilateral cerebral hemispheres, especially both frontal lobes. Twelve hours after the incident, brain CT images show more
prominent diffuse low density at whole brain(pictures are not shown).
An autopsied case of Williams syndrome complicated by moyamoya
disease. Acta Paediatr Jpn 35 : 63-67, 1993
4.Kim SH, Choi JU, Yang KH, Kim TG, Kim DS: Risk factors for postoperative ischemic complications in patients with moyamoya disease. J
Neurosurg 103 : 433-438, 2005
5.Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL : Natural
history of Williams syndrome: physical characteristics. J Pediatr 113 :
318-326, 1988
6.Nomura S, Kashiwagi S, Uetsuka S, Uchida T, Kubota H, Ito H : Perioperative management protocols for children with moyamoya disease.
Childs Nerv Syst 17 : 270-274, 2001
7.Olds MV, Griebel RW, Hoffman HJ, Craven M, Chuang S, Schutz H :
The surgical treatment of childhood moyamoya disease. J Neurosurg
66 : 675-680, 1987
8.Pober RB : Medical progress, Williams-Beuren syndrome. N Engl J
Med 362 : 239-252, 2010
9.Preus M : The Williams syndrome, objective definition and diagnosis.
Clin Genet 25 : 422-428, 1984
10.Sakamoto T, Kawaguchi M, Kurehara K, Kitaguchi K, Furuya H, Karasawa J : Risk factors for neurologic deterioration after revascularization
surgery in patients with moyamoya disease. Anesth Analg 85 : 10601065, 1997
11.Sandham JD, Hull RD, Brant RF, Knox L, Pineo GF, Doig CJ, et al. : A
randomized, controlled trial of the use of pulmonary-artery catheters in
high-risk surgical patients. N Engl J Med 348 : 5-14, 2003
12.Schubert C : The genomic basis of the Williams-Beuren syndrome. Cell
Mol Life Sci 66 : 1178-1197, 2009
13.Smith JL : Understanding and treating moyamoya disease in children.
Neurosurg Focus 26 : E11, 2009
259