Basilar Artery Occlusion in a Case
of Duchenne Muscular Dystrophy
Toyojiro Matsuishi, MD, Eiji Yano, MD, Kenjiro Terasawa, MD,
Ikuya Nonaka, MD, Osamu Ishihara, MD,
Yoichiro Yamaguchi, MD and Toshio Okudera, MD
This is a report of a case of Duchenne muscular dystrophy (DMD), with multiple infarcts in the
territories of the basilar artery. He developed abrupt vomiting and transient left hemiparesis at
the age of 4 years. The episodes were seen 3 times between 4-year-1-month to 5-year-1-month old.
Transaxial computerized tomography (eT) revealed multiple, well-defined but i"egularly marginated areas of low density centered in the mid- and upper pons, right cerebral peduncle and
thalamus. A right vertebral angiogram illustrated the na"owed basilar artery. The rectus femoris
muscle was biopsied at the age of 4-year-1-month which showed marked variation in fiber size,
myonecrosis with phagocytosis, central nuclei, and adipose and connective tissue proliferation,
which were consistent with those seen in DMD. It remains unknown whether the basilar artery
occlusion was an incidental event in this particular case or closely related to the disease process of
DMD.
Matsuishi T, Yano H, Terasawa K, Nonaka /, Ishihara 0, Yamaguchi Y,
Okuder'a T. Basilar artery occlusion in a case of Duchenne
muscular dystrophy. Brain Dev 1982;4:379-84

Progressive muscular dystrophy is a genetically
determined disorder with progressive degeneration of skeletal muscle but with no structural
abnormality in the central or periph~ral
nervous system [1]. However, recent clinical

From the Department of Pediatrics and Child Health,
Kurume University School of Medicine, Kurume,
Fukuoka (TM, EY, KT, 01, YY); Division of Neuromuscular Research, National Center for Nervous,
Mental and Muscular Disorders, Kodaira, Tokyo (IN);
Department of Radiology, University of Fukuoka,
Fukuoka (TO).
Received for pUblication: February 15, 1982.
Accepted for pUblication: June 28, 1982.
Key words: Duchenne muscular dystrophy, mental
retardation, sensory deafness, basilar artery occlusion.
Correspondence address: Dr. Toyojiro Matsuishi, Department of Pediatrics, Kurume University School of
Medicine, 67 Asahi-machi, Kurume, Fukuoka 830,
Japan.

studies revealed a number of cases of central
nervous system involvement in DMD. In contrast to much clinical evidence, no significant
pathological changes in the central nervous
system have been described; the motor neurons
of brain and spinal cord are said to be normal [2-4]. Although mental subnormality is
quite common in DMD [1-4], whether or not
mental retardation is related to anatomical
abnormalities remains unknown. Only one
paper described abnormal neuronal migration
(heterotopic neurons) in the brains of markedly
mentally retarded patients with DMD [4].
Slight cerebral atrophy may be observed on
computerized tomography [5] ; however, there
is no remarkable change in the brain
stem [2-5]. While the cause of vascular occlusion in the present case remains to be solved,
we decided to describe this unusual case to
draw further attention to the probable vascular
abnormality in DMD.

Case Report
A 4 years and 1 month old Japanese boy was
admitted to our hospital because of episodes of
vomiting, dehydration and general malaise.
There was no consanguineous marriage. Neither
muscular or metabolic disorders nor patient
with mental retardation or deaf were known
in the family. He was born at full term by
vaginal delivery complicated by umbilical cord
strangulation and moderate asphyxia. His birth
weight was 3,050 gm.
His developmental milestones were slightly
delayed; he obtained head control at 5 months,
rolled over at 6 months, sat alone at 7 months,
and learned to walk at 18 months when he was
already noted to have Gowers' sign. He fell
easily and was unable to run fast. His muscular
condition progressively worsened. At the age of
4 years and 1 month he presented recurrent
vomiting, dehydration, and left hemiparesis of
sudden onset which prompted to be brought
him to Kurume University Hospital. On admission, he was a slender boy with generalized
muscle wasting and left hemiparesis. Height
was 95.7 cm (-1.1 SD) and weight 13.8 kg
(-1.2 SD). He was alert but had mental retardation (DQ: below 50) and sensory deafness. He
had moderate generalized muscle weakness and
stood up with Gowers' maneuver. When lying
in the supine position, he was unable to raise
his head because of notable neck muscle weakness. Enlargement of muscles, particularly the
calves, was observed. Tendon jerks were accelerated with positive pyramidal signs on the
left. There was no sensory deficit. Neither
fasciculation nor percussion myotonia was
noted. The other cranial nerves and ocular
fundi were intact (Fig 1).
Laboratory examination showed normal
urinalysis and CBC. Serum creatine kinase (CK)
was 918 IU (normal; less than 40), aldolase
36 mUjml (normal range; 0.5-3.1), lactic dehydrogenase 2366 WU (normal; less than 400),
s-GOT 113 Karmen UjL, s-GPT 182 Karmen
UjL, and alkaline phosphatase 9.9 U (normal;
less than 10). Serum electrolytes and serum
protein were within normal limits. The other
results of blood chemistry included total
cholesterol of 196 mgjdl, fasting glucose of
90 mgjdl and thyroxine of 12.0 p.gjdl (normal
range; 6.4-13.0). Acid base balance and lactate
were normal. A chest X-ray was unremarkable.
380 Brain & Development, Vol 4, No 5,1982

Antinuclear antibody and LE cells were negative. A virological and bacteriological study
showed elevated serum Mycoplasma pneumoniae titers (CF of x 64, PHA x 160; after 2
weeks, CF x 16, PHA x 160). ECG showed left
ventricular hypertrophy, the sleep EEG was
normal, and EMG showed a myopathic pattern.
The cerebrospinal fluid was normal.
A routine transaxial CT scan without contrast media revealed multiple, well-defined but
irregularly marginated small low density areas
located in the mid- and upper pons, predominantly on the right side (Fig 2). Low density
areas were also visible in the right cerebral
peduncle and thalamus. These foci showed
almost the same CT density as that of CSF. The
pons was not enlarged and the pontine cistern
was not narrowed. The shape and location of
the fourth ventricle were within normal limits.
There was no displacement or deformity of the

Fig 1 Patient at the age of 4 years, representing
lordosis and generalized muscle wasting.

lateral and third ventricles. A right vertebral
angiogram illustrated narrowing and irregularity
in the proximal portion of the basilar artery
(Fig 3). The above findings were thought to be
caused by vascular lesion, probable multiple
infarcts in the territory of the perforating
branches originated from the proximal portion
of the basilar artery.

A muscle biopsy specimen obtained from
the left rectus femoris was stained by a battery
of histochemical methods. The most striking
findings in the present biopsy included a marked variation in fiber size, degenerative changes
in muscle fibers, central nuclei, phagocytosis of
necrotic muscle fibers, and adipose and connective tissue proliferation (Fig 4A). On ATPase

Fig 2 CT scan showing multiple, well-defined low density areas in the mid- and upper pons, cerebral
peduncle on the right side.

Fig 3 A right vertebral angiogram illustrates narrowed basilar artery in the proximal portion.

Matsuishi et al: Basilar artery occlusion in DMD 381

staining, both type 1 and type 2 fibers were
seen to be involved (Fig 4B).
After discharge, he developed two similar
mild attacks in one year, but with no significant
neurological sequelae.
Discussion
From the clinical history, and pathological
findings of the biopsied muscle, there is little
doubt that the patient had been suffering from
DMD. He had severe mental retardation with
a DQ of below 50, sensory deafness, and in
addition, abrupt vomiting and transient left
spastic hemiparesis starting from the age of 4
years and 1 month. The recurrent symptoms of
central nervous system were thought to be
resulted from basilar artery occlusion which

was confirmed by vertebral angiogram and CT
examinations.
The cause of the vascular change in the
present case remains unknown. Although the
serum PHA and CF titers of Mycoplasma
pneumoniae were significantly elevated, no sufficient evidence was obtained to firmly judge
whether or not he had any infectious process in
the central nervous system.
The syndrome of vertebrobasilar insufficiency had been well described in adults [6]
and in fact is one of the commonest neurological illnesses. In adults, atheroma is the
commonest cause [6, 7], but the syndrome
has been seen in association with cervical
spondylosis, dissecting aneurysm and syphilitic
aortitis. The subclavian steal syndrome will
produce an identical clinical manifestation.

Fig 4 In the biopsied muscle, there are
remarkable variation in fiber size,
scattered necrotic (arrow head) and
opaque fibers (asterisk), and adipose and
connective tissue replacement. Both
type 1 and type 2 fibers are involved.
A; HE, B; routine ATPase A, B x 200.

382 Brain & Development, Vol 4, No 5,1982

In contrast to the well-documented and
frequent occurrence of vertebrobasilar occlusive disease in adults, to our knowledge only
six cases have .previously been reported in
childhood. Two autopsied cases described by
Fowler [8] revealed basilar artery occlusion
and focal softening in the midbrain and
thalamus. The other cases in the literature
included an example of spontaneous basilar
artery thrombosis of unknown etiology, occurring in a previously well child at six years of
age [9]. Ouvrier et al [7] found only three
cases of occlusive disease of the vertebrobasilar
system in 162 patients with cerebrovascular
disease. One patient had recurrent episodes of
vertigo for several months, and later developed
dysarthria, ataxia and hemiparesis together with
fluctuating ocular paresis. Arteriography showed widespread changes in the vertebrobasilar
system similar to those seen in "arteritis." The
cause in their second case was not established.
The third case developed sudden coma in the
course of bacterial endocarditis and angiography showed an attenuated basilar artery
presumably due to embolism. These conditions
seem to be rare in childhood.
In our case, the angiogram showed a partially occluded basilar artery with an irregular and
beaded contour predominantly seen in the
proximal portion. Since the finding was somewhat similar to that seen in "arteritis" [10] , the
possibility of a focal inflammatory process in
the artery caused by Mycoplasma pneumoniae
remains to be considered.
Although the pathogenesis of DMD is unknown, three major hypotheses for the induction of myonecrosis have been proposed;
membrane, neurogenic and vascular theories.
The major proponent of the vascular theory is
now Engel and his associates, who was led to
the concept of a vascular disorder by the observation of aggregated necrotic muscle fibers
in the biopsies [11, 12]. The appearance of
these group lesions suggested that they might
arise from occlusion of or at least inadequate
flow in small vessels within muscle. Similar
lesions were reproduced in animals by injection
of minute plastic spheres or by ligation of the
aorta [12]. Clinically, Boranic et al [13] described vascular changes, epilepsy, oligophrenia
and a peptic ulcer in a lO-year-old boy with
progressive muscular dystrophy. They speculated that these coincidental clinical symptoms

might have resulted from impaired blood supply not only to the muscle and gastrointestinal
tract but also to the central nervous system.
Despite the many clinical and pathological possibilities of inadequate blood supply in small
vessels in DMD [11, 13, 14 J, no vascular change
in major vessels as seen in the present case has
been described. Therefore it remains to be
solved as to whether the vascular occlusion in
the basilar artery in the present case was an
incidental event caused by an inflammatory or
other etiological process, or closely related to
the basic defect in DMD.

References
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