819

Arteriopathy and Coarctation of

the Abdominal Aorta in Children
with Mucopolysaccharidosis:
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Imaging Findings

Donna B. Taylor12 Eight children with mucopolysacchandosis I (MPS I), representing 33% of all children
Susan I. Blaser1 with MPS I seen at our institution during an 18-year period, developed hypertension.
Patricia E. Burrows1 Five of these hypertensive children also exhibited symptoms of aortic coarctation. The
radiographic evaluation of four of these children with MPS I (three with Hurler syndrome,
David A. Stringer1 ‘
MPS I H, and one with Scheie disease, MPS I S) and arteriopathy affecting the thoracic
Joe T. R. Clarke4
aorta, abdominal aorta, and visceral and renal arteries is presented. Hypertension
Paul Thorner developed in all four children before they were 4 years old; three had differences
between upper- and lower-extremity blood pressures. Irregular narrowing of the abdom-
inal aorta with either multiple minor asymmetric wall lesions (n = 2) or abrupt concentric
narrowing (n = 2) was present in all children as shown by aortography (n = 3),
sonography (n = 3), MR imaging (n = 2), and/or autopsy (n = 1). A variety of other
vessels also were involved, including the ascending aorta (n = 1) and vertebral (n = 1),
axillary (n = 1), intercostal (n = 2), lumbar (n = 2), mesenteric (n = 3), renal (n = 2),
and iliac arteries (n = 3). Autopsy in one child demonstrated thickened heart valves,
narrowing of the coronary arteries, and irregularity of the aorta due to deposition of
mucopolysaccharide material within the intima.
Our series demonstrates various facets of the arteriopathy of MPS I as shown by
sonography, MR imaging, and angiography.

AJR 157:819-823, October 1991

Significant vascular disease may develop at an early age in children with muco-
polysaccharidosis I (MPS I) [i ]. Previous reports have emphasized the lesions in
Received October 22, 1 990: accepted after re- the coronary arteries, cardiac valves, endocardium, myocardium, and aorta [2-5],
vision April 9, 1991. but not involvement of the thoracic and abdominal aorta and visceral and renal
Presented as a poster at the annual meeting of arteries. We describe various manifestations of the arteriopathy as shown by
the European Society for Pediatric Radiology, sonography, MR imaging, and angiography.
Munich, Germany, May 1990.
1 Department of Radiology, The Hospital for Sick
Children and University of Toronto, 555 University
Materials and Methods
Ave., Toronto, Ontario, Canada M5G 1 x8. Address
reprint requests to P. E. Burrows.
Between January 1 972 and January 1990, 24 infants and children with MPS I were clinically
2 Present address: Department of Radiology,
examined at our institution. The diagnosis of MPS I was confirmed in all cases by showing
Royal Perth Hospital, Box X221 3, G.P.O., Perth,
severe deficiency of alpha-L-iduronidase activity in peripheral blood leukocytes and/or cultured
West Australia 6001.
skin fibroblasts. The classification into MPS I H (Hurler-syndrome), MPS I S (Scheie syndrome),
3 Present address: Department of Radiology.
or MPS I H/S (Hurler-Scheie syndrome) was based on the clinical findings.
British Columbia Children’s Hospital, 4480 Oak St.,
Vancouver, B.C., Canada V6H 3V4. Blood pressure measurements were obtained in all 24 patients during initial examination
and on follow-up visits. Arterial hypertension developed in eight of these patients. Five of
4 Departments of Genetics and Pediatrics, The
Hospital for Sick Children and University of Toronto, eight hypertensive children had clinical evidence of coarctation of the aorta, with strong
Toronto, Ontario, Canada M5G 1X8. brachial and weak femoral pulses and a significant blood pressure difference between the
S Department of Pathology, The Hospital for Sick upper and lower extremities.
Children and University of Toronto, Toronto, On- Only one child had symptoms of intermittent claudication. Four hypertensive children, 4.5-
tario, Canada M5G 1X8. 10.0 years old, underwent imaging of the aorta. Three had MPS I H and one had MPS I S.
0361 -803x/91 /1 573-0819 All had systemic hypertension and three had clinical evidence of coarctation of the aorta. The
C American Roentgen Ray Society other four children were not evaluated because of their poor clinical condition when hyperten-
 820 TAYLOR ET AL. AJR:157, October 1991

sion developed. The following vascular imaging studies were done: within the thoracoabdominal aorta (Figs. i -4). Only one child
sonography, MA, and angiography in one patient; sonography and (case 1) had claudication; discomfort in his legs was caused
angiography in one; MR and sonography in one; and angiography by walking and relieved immediately by rest. The other three
alone in one. Gray-scale sonography was performed with a 5-MHz
patients may not have communicated their discomfort be-
transducer on an Acuson 125 unit. Doppler studies were performed
cause of immobility and/or intellectual impairment.
in two patients with a 3.5-MHz transducer. A 1 .5-T General Electric
MR scanner was used to obtain spin-echo images of the thoracic
The sites of arterial involvement in each child are summa-
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and abdominal vessels in sagittal, coronal, and axial planes in two nzed in Table i . The ascending aorta was abnormal in one
patients. IV administration of Nembutal sodium (Abbott Laboratories, patient, with supravalvular stenosis and poststenotic dilata-
Ltd., Toronto)for sedation was required for one of these MR studies, tion (Fig. 4B). Irregular wall lesions were present in the aortic
and all angiograms were obtained under general anesthesia. Anes- arch in two patients. The descending thoracic aorta showed
thetization was performed carefully since patients with MPS may asymmetric wall lesions in three patients with occlusion and
have upper airway obstruction and cord compression at the crani- irregularity of multiple intercostal arteries.
ocervical junction due to mucopolysaccharide deposition. Two chil- All children had involvement of the abdominal aorta con-
dren have died of their disease since being examined; an autopsy
sisting of multiple minor asymmetric wall lesions and/or abrupt
was performed on one.
concentric narrowing. Two patients had occlusion of lumbar
arteries. In three patients, the major visceral arteries, including
the celiac trunk, superior and inferior mesenteric arteries, and
Results
renal arteries, had stenoses of their origins and/or irregular
The clinical features of the four children who underwent wall lesions in peripheral branches. Narrowing of the iliac
vascular imaging are summarized in Table 1 All three children . arteries was seen in three patients. MR was performed 2
with MPS I H had developmental delay, but the child with years after angiography in one child and demonstrated pro-
MPS I S was intellectually normal. Systemic hypertension was gression of abdominal aortic obstruction (Fig. 1). Autopsy in
present in all four patients, and in three of these it was difficult one patient showed thickening of the cardiac valve leaflets
to control with medication. In case 2, hypertension developed and diffuse narrowing of the coronary arteries. Yellowish
after a general anesthetic was administered for insertion of a streaks were noted on the intimal surface of the ascending
ventriculoperitoneal shunt to treat extraventricular obstructive aorta, just above the aortic valve. On microscopic examina-
hydrocephalus. The hypertension remained difficult to control. tion, mucopolysaccharide was seen expanding the intima of
Differences between upper- and lower-extremity blood pres- the coronary arteries (Fig. 4B) and the endocardium of cardiac
sures were documented in cases 1-3. Subsequent imaging valve leaflets. Foamy macrophages and myointimal cells were
confirmed the presence of one or more marked stenoses present within the aortic intima.

TABLE 1: Summary of Clinical and Radiologic Findings in Children with Mucopolysacchandosis I (MPS I)

Case Age Type of Symptoms Locatio ns of Lesions on Imaging Studies

No. (yr) MPS I Sonography MR Angiography
1 8.5 IS Hypertension, coarctation, Aorta, distal to superior Aorta, distal to superior Infrarenal aorta, origins
claudication mesenteric artery mesentenc artery; il- of iliac/lumbar arter-
iac arteries es
2 4 I H Hypertension, coarctation Aorta, proximal to su- MR not performed Thoracoabdominal
penor mesenteric ar- aorta, origins of in-
tory tercostal/Iumbar/ce-
liac/renal arteries,
distal superior mes-
enteric artery, pe-
ripheral renal arter-
ies
3 7 IH Hypertension, coarctation Axillary artery; aorta, Arch, distal thoracic/ Angiography not per-
distal to superior suprarenal aorta to formed
mesentenc artery; bifurcation, superior
superior mesenteric mesenteric artery, il-
artery ac arteries
4 5 IH Hypertension Sonography not per- MR not performed Supravalvular, do-
formed scending thoracic,
supra- and infrarenal
aorta; proximal sub-
clavian and vertebral
arteries; origins of
intercostal/lumbar/il-
iac arteries; superior
and inferior mesen-
teric arteries; periph-
eral renal artery

Note.- MPS I S = Scheie synd rome: MPS I H = Hurler syndrome.

 Fig. i.-Aortography, sonography, and MR .r:
imaging in case 1, an 8.5-year-old boy with mu- .. ,

copolysaccharidosis I S. ,:
A, Abdominal aortogram shows abrupt infra-
renal aortic narrowing extending to and involving
origins of iliac arteries. Irregular narrowing also
involves proximal lumbar arteries.
B, Transverse sonogram. Lumens of aorta
(Ao) and superior mesenteric artery (SMA) are
of similar caliber.
C and D, Axial Ti-weighted MR images ob-
tamed above cellac axis (C) and at level of left
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renal vein (D) show progressive narrowing of

abdominal aorta (Ao). 5evere narrowing and ap-
parent wall thickening is at level of left renal
vein.

C D

Discussion
The MPS diseases are a group of inherited disorders char-
acterized by a deficiency of lysosomal enzymes. In MPS I,
alpha-L-iduronidase deficiency leads to intralysosomal storage
of dermatan and heparan sulfate in different tissues, resulting
in characteristic neurologic, skeletal, cardiovascular, and vis-
ceral changes Li 1- The clinical spectrum of MPS I is highly
variable. All have a deficiency of the same alpha enzyme (a
L-iduronidase); however, there are at least three clinically and
genetically distinctvariants [6]. The Hurler syndrome (MPS I
H) is characterized by severe somatic and neurologic involve-
ment with mental retardation. Death usually occurs by 10-12
years of age. In contrast, children with Scheie syndrome (MPS
I S) have much milder skeletal and visceral problems and no
primary neurologic involvement. These children are frequently
of normal intelligence and may live into adulthood. A clinically
intermediate form has also been described H/S) [6].
(I
Hypertension, often refractory to treatment, has been re-
ported in up to 32% of patients with MPS I [7]. Two possible
mechanisms are occlusive disease of the aorta and renal
arteries and chronic upper airway obstruction. Hypertension
may, as in one of our children, be triggered by interventional
Fig. 2.-Aortography in case 2, a 4-year-old boy with mucopolysac- procedures or surgery, but the reason for this is unknown.
charidosis I H. Aortography performed via axillary artery shows severe, Cardiovascular disease has been documented in all forms
Irregular, and diffuse narrowing of suprarenal thoracoabdominal aorta, with of MPS [i ]. Narrowing of the coronary arteries is thought to
occlusion of multiple intercostal arteries, and focal stenosis of proximal
superior mesenteric artery. Note also caliber changes involving branches be most severe in Hurler syndrome (MPS I H) and Hunter
of renal arteries (arrow). syndrome (MPS II) [8] and, although extensive, is usually
 822 TAYLOR ET AL. AJR:157, October 1991

Fig. 3.-Sonography and MR imaging in case

3, a 7-year-old boy with mucopolysaccharidosis
IH.
A, Sagittal sonogram shows abrupt aortic nar-
rowing (arrows) below origin of superior mes-
enteric artery (SMA). Diameter of aorta (Ao) is
similar to that of superior mesenteric artery.
B, High-frequency shifts on Doppler sonogram
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confirm luminal stenosis.

C, Ti-weighted coronal MR image shows dif-
fuse, severe narrowing (arrows) of abdominal
aorta.
D, Ti-weighted axial MR image. Note 2- to 3-
mm lumen of suprarenal aorta (arrow) and small
lumen of superior mesenteric artery (arrow-
head), with vessel wall thickening.

C D

asymptomatic. A clear-cut history of angina pectoris has been and medium-sized arteries [2, 4]. These lesions differ from
reported in only one patient with MPS I H [8]. The lack of atherosclerotic plaques in that electron microscopy shows
reported symptoms may be related to the inability of many of marked proliferation of vacuolated myointimal (Hurler) cells
these children to communicate, although none of our patients and macrophages; these cells contain nondegradable muco-
had clinical or EGG evidence of myocardial ischemia. polysaccharide within markedly distended lysosomes. Mas-
Involvement of the aorta and other large vessels has been sive proliferation of collagen and elastic fibers is also present
mentioned in previous reports [4, 7J. In a review by Krovertz [4].
et al. [7] of published autopsy findings in 58 patients with Few radiologic reports have described the visceral arterial
Hurler syndrome, aortic plaques were recorded in 15 patients findings in MPS I. Schmidt et al. [9] reported the radiologic
and generalized arterial involvement in five others. One of the findings in two patients with MPS I H/S at 20 and 40 years
i 5 had aortic narrowing and stenosis of the origin of the left of age. Neither was hypertensive nor had clinical evidence of
subclavian artery. Renteria et al. [4] found multiple yellow and vascular disease. Severe aortic narrowing such as that ob-
fibrous atherosclerotic plaques within the aorta of all six of served in our patients has been reported in only one previous
their MPS I patients. Similar lesions were seen in the carotid case, an 8-year-old child with MPS VII (fl-glucuronidase defi-
arteries and branches of the renal and hepatic arteries. ciency) [1 0]. Clinical findings included hypertension and symp-
Autopsies of MPS I patients have shown the arterial nar- toms of coarctation. Angiography suggested concentric nar-
rowing to be caused by the deposition of “Hurler plaque” rowing of the aorta below the origins of the renal arteries, as
within the intima and inner portion of the media of the large was seen in three of our children.
 Fig. 4.-Aortography and pathologic exami-
nation in case 4, a 5-year-old boy with mucopo-
lysaccharidosis I H.
A, Arch aortogram shows mild focal supraval-
vular aortic stenosis (arrows) and dilatation of
ascending aorta. Incidentally noted is common
origin of innominate and left carotid arteries.
B, Cross section of coronary artery shows
marked stenosis due to expansion of subintimal
region. Material in subintima stains positively for
acid mucopolysaccharide. (Colloidal iron-PAS,
original magnification, x65)
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A B

Our series includes the use of several different imaging vascular imaging is indicated in patients with MPS I and
techniques to evaluate the major vessels. An important con- symptomatic aortic or visceral arterial narrowing to document
sideration in the selection of the imaging technique is the the cause of the hypertension and to direct treatment. Both
need for sedation. Chronic upper airway obstruction is com- sonography and MR imaging can identify obstructive aortic
mon in MPS I [i 1 J, making sedation both riskier and less lesions, and can be used in initial screening of follow-up
effective (owing to excessive chest movement with upper examinations in patients with MPS. Angiography probably
airway obstruction) than in normal children. These patients should be reserved for those children in whom treatment is
may also require larger than usual doses of sedative drugs being considered, or in whom delineation of disease of the
[7]. Although Krovertz et al. [7] did not report any complica- aortic branches is clinically indicated.
tions related to sedation of their patients, one of our patients
developed stridor and desaturation after IV sedation for the
MR examination; he responded to airway suctioning and ACKNOWLEDGMENTS
oxygen administration. We thank Sandra Leung, Deborah Villeneuve, Carolyn MacDonald,
Sonography has the advantage of rarely requiring sedation. and Susan Scorizzi for manuscript preparation.
The limitations of this technique include inability to show the
descending thoracic aorta and inability to visualize the lower
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