The Turkish Journal of Pediatrics
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A rare form of Guillain-Barré syndrome: pharyngeal-cervical-brachial variant
M. Özlem Hergüner, Tugay Tepe, Şakir Altunbaşak, Vildan Baytok
Department of Pediatric Neurology, Çukurova University Faculty of Medicine, Adana, Turkey
|Hergüner MÖ, Tepe T, Altunbaşak Ş, Baytok V. A rare form of
Guillain-Barré syndrome: pharyngeal-cervical-brachial variant. Turk J Pediatr
2008; 50: 91-93.|
Guillain-Barré syndrome is clinically characterized by acute onset of generalized,
symmetrical, and ascending muscle weakness and areflexia from peripheral
nerve involvement. In Guillain-Barré syndrome variants, however, some patients
have unusual distribution of muscle involvement. Pharyngeal-cervical-brachial
variant of Guillain-Barré syndrome is characterized by oropharyngeal, neck,
and upper limb muscle involvement. Although Guillain-Barré syndrome is
one of several post-infectious diseases that cause limb muscle weakness,
the incidence of pharyngeal-cervical-brachial variant is relatively low. Here
we report the case of a 16-month-old boy who developed a rare form of
Guillain-Barré syndrome, the pharyngeal-cervical-brachial variant of the disease.
We concluded that taking all the other etiologic reasons into consideration,
pharyngeal-cervical-brachial variant of Guillain-Barré syndrome should be
remembered in patients with symptoms of bulbar and upper extremity
weakness not only for early diagnosis but also to plan the treatment early
and follow up the potential complications.
Guillain-Barré syndrome, pharyngeal-cervical-brachial variant
|Guillain-Barré syndrome (GBS) includes a
spectrum of acquired, immune-mediated
disorders causing dysfunction or degeneration
in peripheral nerves, spinal sensory and motor
nerve roots and, occasionally, cranial nerves.
The incidence of the disease has been estimated
to range from 0.5 to 1 in 100,000, in individuals
younger than 18.|
Guillain-Barré syndrome is clinically characterized
by acute onset of generalized, symmetrical,
and ascending muscle weakness and areflexia
from peripheral nerve involvement. In GBS
variants, however, some patients have unusual
distribution of muscle involvement. Miller-Fisher
syndrome is characterized by the triad of ataxia,
areflexia, and external ophthalmoplegia. In
polyneuritis cranialis, bilateral facial neuropathy
is the most common manifestation, which more
typically occurs in the evolution of a syndrome
of ascending paralysis with other clinical
features of acute inflammatory demyelinating
polyneuropathy. Rarely, facial and bulbar
weakness present with dysphagia and dysphonia
and only minimal, if any, appendicular weakness.
Pharyngeal-cervical-brachial (PCB) variant of
GBS is characterized by oropharyngeal, neck,
and upper limb muscle involvement. Although
GBS is one of several post-infectious diseases
that cause limb muscle weakness, the incidence
of PBC is relatively low[1-3].
The diagnosis of GBS is relatively easy in
patients with typical constellation of clinical
features, with laboratory examination of the
cerebrospinal fluid and electrodiagnostic studies.
Recognition of atypical cases is important
because it permits anticipatory monitoring
for complications of the disease and identifies
therapeutic options for affected children.
Here we report the case of a 16-month-old
boy who developed a rare form of GBS, the
PCB variant of the disease.
|Case Presentation |
|A 16-month-old boy was admitted to our
hospital with difficult respiration and bilateral
arm weakness. He had an acute gastroenteritis
two weeks before. He had experienced difficulty in swallowing and bilateral arm weakness for
the last three days. His past medical history and
family history were unremarkable. His mental
examination was normal. He had cyanosis
and difficulty in respiration. In neurological
examination, he was alert. He had dysphagia,
but his eye movements and pupillary light
reflex were normal. His upper extremities
were flask and he had loss of head control.
Strengths in distal and proximal muscles
in upper extremities were 1/5 bilaterally.
Strength in the legs was normal except for trace
weakness of the hip flexors. The deep tendon
reflexes were absent in both arms but mildly
depressed in the legs. The plantar responses
were flexor, and sensation was intact. There
was no ataxia or tremor. Autonomic functions
Laboratory examination revealed serum
electrolytes, complete blood count, and liver
function tests to be normal. Viral panel
(cytomegalovirus, Epstein-Barr virus, rubella,
rubeola and herpes viruses), cultures for
salmonella, shigella and campylobacter, and
serological examination for mycoplasma were
also normal. Cervical magnetic resonance imaging
(MRI) was normal. The cerebrospinal fluid
examination on day 8 indicated cytoalbuminologic
In addition, nerve conduction studies indicated
acute motor axonal injury and sparing of
sensory responses, especially in the arms.
He was diagnosed with PCB variant of GBS. He
was treated with intravenous immunoglobulin
2 g/kg administered in 3 doses. Over the
following 15 days, muscle strength in his arms
was 3/5 bilaterally and lower extremity strength
was normal. His respiration became nearly
normal, and dysphagia was disappearing.
|In nations with widespread immunization
programs in place, where poliomyelitis has
been nearly eliminated, GBS remains the most
common cause of acute paralysis in childhood.
Typical GBS is characterized by bilaterally
symmetrical ascending paralysis, absent of deep
tendon reflexes, sensory loss, cytoalbuminologic
dissociation in cerebrospinal fluid and typical
findings in nerve conduction studies. In up to
45% of affected children, facial weakness and
ophthalmoplegia were reported associated with extremity weakness. A number of variant forms
of GBS are recognized. Miller-Fisher syndrome
is characterized with ataxia, areflexia, and
ophthalmoplegia. Some of them are associated
with facial weakness, dysarthria, dysphagia,
abnormal pupil reactions, and weakness of the
extremities. Electrophysiological studies usually
reveal axonal degeneration. Polyneuritis cranialis
is defined as acute, multiple, symmetrical cranial
neuropathies, with the most frequently involved
cranial nerves being III and IV[1-3].|
In 1986, Ropper described the first patients with
PCB variant of GBS. The disease was characterized
with muscle weakness predominantly in
oropharyngeal, neck, shoulder and arm muscles
and dysphagia. In their cases, the lower limbs
were spared, and this was initially thought to be
a diagnostic hallmark for this variant. However,
some patients were later described to have mild
lower limb weakness, similar to our patient. The
cerebrospinal fluid examination may be normal or
protein may be mildly elevated. Nerve conduction
studies often revealed motor axonal injury and
sparing of sensory responses, as was found in our
case. However, in some cases, electrodiagnostic
findings may be normal or with evidence of a
primary demyelinating process.
Pharyngeal-cervical-brachial variant of GBS is
a rare disorder in childhood. Furiya et al.5
reported a 15-year-old boy with acute onset
ataxia, diplopia, dysarthria, and dysphagia,
followed by muscle weakness in neck and
arm muscles. That patient had symptoms of
both Miller-Fisher syndrome and PCB variant
of GBS. Mogale et al. reported two children
(10 and 3 years old) with acute demyelinating
PCB variant. Murakami et al. reported a 15-
year-old girl who developed bulbar palsy and
upper limb dominant muscle weakness two
weeks after a cytomegalovirus infection. In PCB
variant of GBS, bulbar palsy is noticed from
the early stage of the disease and improves
in a few months.
Our patient had dysphagia at presentation,
followed by muscle weakness in neck and
arms. There was a history of antecedent
infection as gastroenteritis. Examination of the
cerebrospinal fluid and electrodiagnostic studies
supported this diagnosis. Spinal lesions were
excluded with his MRI findings. Other acute
neuropathies with upper extremity predominant
weakness, such as Tangier disease, tyrosinemia, and porphyria, were excluded on biochemical
testing. Poliomyelitis was excluded with his
clinical findings and nerve conduction studies.
Our patient was younger than those reported
previously in the literature.
Guillain-Barré syndrome is one of several
autoimmune disorders and is often preceded
by an infectious disease. Anti-ganglioside
antibodies are detected in the sera of patients
with GBS and its variants. It is thought to be
a useful marker for supporting the diagnosis.
Specific nerve antigens have been reported in
various types of GBS. In Miller-Fisher syndrome
and polyneuritis cranialis, anti-ganglioside
GQ1b antibodies have been shown[1,5,8,9].
Murakami et al. reported a girl who developed
PCB variant of GBS after cytomegalovirus
infection and who had isolated elevation of anti-
GT1a IgG antibody. It is interesting, because
Koga et al. reported that all GBS variants
with GT1a-specific IgG antibody had positive
serology for Campylobacter jejuni infection.
However, in our case, there was an antecedent
infection as gastroenteritis, we did not show
any pathological agent, and assays for these
antibodies were not available.
Adult patients with PCB variant of GBS commonly
have prolonged illness. Electrophysiological
studies are not good predictors of the outcome.
Treatment strategies in GBS could theoretically
employ interventions at multiple stages in
the process of autosensitization and targeted
tissue inflammation. Studies suggest that
plasmapheresis and intravenous immunoglobulins
are safe and effective treatment for children
with GBS, especially in more severely affected
children1. In our case as well, early results were
satisfactory after intravenous immunoglobulin.
In conclusion, PCB variant of GBS can be seen
in childhood, though not often. Taking all
the other etiologic reasons into consideration,
PCB variant of GBS should be remembered in
patients with symptoms of bulbar and upper
extremity weakness not only for early diagnosis
but also to plan the treatment early and follow
up the potential complications.
1. Sladky JT. Guillain-Barré syndrome in children. J Child
Neurol 2004; 19: 191-200.
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areflexia). N Engl J Med 1956; 255: 57-65.
3. Asbury AK. New concepts of Guillain-Barré syndrome.
J Child Neurol 2000; 15: 183-191.
4. Ropper AH. Unusual clinical variants and signs in Guillain-
Barré syndrome. Arch Neurol 1986; 43: 1150-1152.
5. Furiya Y, Murakami N, Kataoka H, Kataoka H,
Suzumura A, Takayanagi T. A case of Fisher syndrome
showing pharyngeal-cervical-brachial weakness with an
elevation of anti-GQ1b and anti-GT1a antibodies. Clin
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childhood. Pediatr Neurol 2005; 33: 285-288.
7. Murakami N, Tomita Y, Koga M, et al. An adolescent
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Barré syndrome after cytomegalovirus infection. Brain
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I. Ganglioside composition of the human cranial
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Volume 50 • Number 1 A Rare Form of Guillain-Barré Syndrome in an Infant 93
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