Download A Case Report of Duane plus Horner`s Syndrome

A Case Report of Duane plus Horner’s
Syndrome
1- Hamidreza Riasi, MD, Assistant professor of Neurology,
Neurology Department, Vali-e-Asr Hospital, Birjand
University of Medical Sciences, Birjand, Iran.
2- Mohammadreza Rezvani, MD, Assistant professor of
Neurology, Neurology Department, Vali-e-Asr Hospital,
Birjand University of Medical Sciences, Birjand, Iran.
3-Radnoosh Pashmfroosh MD, Assistant professor of
Neurology, Neurology Department, Vali-e-Asr Hospital,
Birjand University of Medical Sciences, Birjand, Iran.
Sciences, Birjand, Iran
5-Yadollah Kholghi MD, consultant neurologist in Rasool
Akram Hospital: Rasht, Gilan, Iran.
Abstract
Duane retraction syndrome is characterized by congenital abduction
deficit, narrowing of the palpebral fissure on adduction, and globe
retraction with occasional upshoot or downshoot in adduction. The
pathophysiology of Duane syndrome is believed to be absence of the
abducence nucleus, with innervation of the lateral rectus (LR) by
branches of the oculomotor nerve. Horner’s syndrome (triad of miosis,
ptosis and enophthalmos, associated with vasodilatation and anhidrosis)
results from disruption of autonomic supply to the eye and lateral face,
following injuries to or pressure upon the cervical sympathetic chain in
the mid and lower neck by trauma, tumor, and degenerative neurologic
disease. In this unusual case we report a young man with abducence
nerve nucleus agenesis (type 1 of Duane syndrome), plus ipsilateral
Horner's syndrome that according our searches hasn't been reported to
now.
Key words: Duane syndrome, Horner syndrome, congenital abnormality
CASE REPORT:
A young man ( 28 years old) referred to neurologic department of Vali-eAsr hospital in Birjand University of Medical Sciences (BUMS) whose
chief complain was diplopia on extreme left side gaze. There was no
strabismus in primary position, but a marked limitation of abduction of
the left eye was present. The ductions of the right eye were normal.
Narrowing of the left palpebral fissure and globe retraction were noted on
the right gaze.
He had partial left side ptosis (in comparison to other side). He couldn’t
ascertain the exact date which his problem began.
There was no history of trauma to head or neck and he had a normal
brain imaging (CT-Scan), and a negative Tensilon (Edorphonium) test.
There was no similar history in his family members.
Physical examination showed: There was no signs of ICP rising but the
patient had diplopia and retraction of globe and accentuation of ptosis in
left endpoint lateral gaze. Eye movement was limited in left lateral gaze
in both conjugated and monocular movement. Examination pupils
showed anisocoria; left pupil 2mm (two millimeter – completely round),
while right pupil was 3.5 – 4 mm. Both direct and indirect light reflex
was normal. Although patient complained of partial dryness in left cheek
no overt sweating difference was seen in left and right of face.
Tensilon test was negative.
Discussion:
Duane retraction syndrome (DRS) is a congenital cranial disinnervation
disorder 4, 10. It is characterized by a spectrum of motility disturbances,
which in all cases retraction of the globe in actual or attempted adduction
and narrowing of the lid fissure of the affected eye is persistent feature 3,
4, 5.
Although most affected patients have Duane syndrome alone, many
associated developmental defects have been observed, including
Goldenhar syndrome (hemifacial microsmia, ocular dermoids, ear
anomalies, preauricular skin tags, and upper eyelid colobomas) and
Wildervanck syndrome (sensorineural hearing loss, Klippel-Fiel anomaly
with fused cervical vertebrae) 11. Most studies show higher prevalence in
females (60%) 4, 11, 12, 13. Most cases of Duane syndrome are sporadic, but
about 5 - 10% show autosomal dominant inheritance 4, 11, 12, 13 and many
nonfamilial cases and predilection for the left eye suggest nongenetic
factors11. Prior reviews of DRS, comprising mostly unilateral cases,
report a 1-4% proportion of all strabismus cases, typically sporadic
occurrence (with 5-10% autosomal-dominant inheritance), and associated
congenital abnormalities (15 to 50%) 12, 13, 14, 15. Familial cases have been
estimated at 10% by most authors 16.
Numerous theories concerning the etiology and pathogenesis of DRS
have been proposed, including agenesis of the abducence nucleus (sixth
cranial nerve), and innervation of lateral rectus by an aberrant branch of
third cranial nerve 2, 4, 16, but the majority of investigators concur that the
characteristic findings are best explained by a paradoxical innervation of
the lateral rectus muscle, which subsequently causes a co contraction of
the horizontal rectus muscles. The frequent association of DRS with other
congenital anomalies suggests a teratogenic event (e.g. exposed to
thalidomide) occurring between the fourth to eighth week of gestation as
an etiological factor 13, 16.
According Huber’s classification system groups cases, there are three
clinical types:
Type I; consists of limited abduction with normal to near normal
adduction and esotropia.
Type II; consists of limited adduction with normal to near normal
abduction and exotropia.
Type III; consists of limited abduction and adduction 4, 5, 13.
Duane syndrome with esotropia and deficient abduction is the most
common form (78%) 4, 5, 13.
The classic triad of Horner syndrome, otherwise known as
oculosympathetic paresis, consisting of ipsilateral miosis, mild upper
eyelid ptosis, and apparent enophthalmos, associated with vasodilatation
and facial anhidrosis, is caused by interruption of at least one of the three
neurons in the oculosympathetic pathway 6, 7, 8, 9. Horner's syndrome has
traditionally been subdivided into acquired and congenital types.
Congenital cases often present as part of Klumpke brachial palsy or
congenital Varicella syndrome and acquired, usually following thoracic
surgery or trauma 6, 8, 17, 18, 19, 20. Acquired cases not only can be sequelae
of head, neck, and chest surgery, but also can be caused by any neoplasm
or infection affecting the oculosympathetic pathway 7, 17. Horner's
syndrome may also occur as the presenting sign of a tumor in the cervical
region, such as neuroblastoma, ganglioneuroma and neurilemmoma 7, 21,
22, 23.
Important identifiable congenital causes are birth trauma, congenital
neoplasm, 7, 17 and carotid abnormalities 7, 18, 19, 20. The most common
neoplasm presenting with Horner syndrome is neuroblastoma, and,
indeed, an isolated Horner syndrome is the first presenting symptom of
neuroblastoma in 2% of cases 7, 21. However, often no etiology can be
found, and in such instances the Horner syndrome is labeled idiopathic 6.
In this unusual case we report a young man with abducence nerve nucleus
agenesis (type 1 of Duane syndrome), plus ipsilateral Horner's syndrome
that according our searches hasn't been reported to now according to our
search in PubMed library.
Conclusion:
Three hypotheses can explain Duane and Horner concordance;
1- We suspect that it may be a spectrum of degenerative diseases in
which abducence nucleus agenesis accompanied with partial degeneration
or agenesis of unilateral sympathetic pathway from hypothalamic area
descending to cervical cord.
2-As some authors postulated, sympathetic distribution in calvarium
follows peripheral nerves, rather than arteries as in other parts of the
body. Therefore the pathway that its interruption produced Horner’s
syndrome is the fibers that joining the sixth cranial nerve and then leaving
to join the first division of the fifth cranial nerve 24, 25, 26. So far this idea
is not proven. If we accept this hypothesis, it is sensible that when there is
agenesis of a cranial nerve, the sympathetic innervation in its division is
also failed to exist.
3- Some author reported cases of Horner’s syndrome plus six nerve palsy
because of organic insult in cavernous sinus (unilateral) 25, 26, but normal
imaging in this patient rule out this possibility although MRI and four
vessel angiography was not done.
As a final decision, if we accept that sympathetic innervation following
cranial nerves not conclusively CNS vascularization, we can explain
abducence nerve agenesis with ipsilateral sympathetic defective
innervation. It should be proven by embryological studies after future
case presentations.
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