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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. References: 1- Zenichiro Kato, Atsushi Yamagishi and Naomi Kondo, Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome, Journal of American Association for Pediatric Ophthalmology and Strabismus, (2007),11, pp.62-64. 2- Nam-Yeo Kang and Joseph L. Demer,Comparison of Orbital Magnetic Resonance Imaging in Duane Syndrome and Abducence Palsy, American Journal of Ophthalmology, (2006), 142, pp. 827-834. 3- A. Duane, Congenital deficiency of abduction associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye, Arch Ophthalmol (1905), 34, pp. 133–159. 4- Arif O. Khan and Darren Oystreck, Clinical Characteristics of Bilateral Duane Syndrome, Journal of American Association for Pediatric Ophthalmology and Strabismus, ( 2006), 10, pp.198-201. 5- A. Huber, Electrophysiology of the retraction syndromes, Br J Ophthalmol (1974), 58, pp. 293–300. 6-Nicholas R. Mahoney, Grant T. Liu, Sheryl J. Menacker, Martin C. Wilson, Michael D. Hogarty and John M. Maris, Pediatric Horner Syndrome: Etiologies and Roles of Imaging and Urine Studies to Detect Neuroblastoma and Other Responsible Mass Lesions • American Journal of Ophthalmology, ( 2006), 142, pp. 651-659.e2 7- Dimitrios I. Zafeiriou, Marina Economou, Dimitrios Koliouskas, Panagiota Triantafyllou, Panagiotis Kardaras and Nikos Gombakis, Congenital Horner's syndrome associated with cervical neuroblastoma, European Journal of Paediatric Neurology, (2006), 10, pp. 90-92. 8- G.T. Liu, N.J. Volpe and S.L. Galetta, Neuro-ophthalmology: diagnosis and management, WB Saunders, Philadelphia (2001), pp. 442– 454. 9- B.E. Starr, R.A. Shubert and B. Baumann, A child with isolated Horner’s syndrome after blunt neck trauma, J Emerg Med (2004), 26, pp. 425–427. 10- N.J. Gotowski, T.M. Bosley and E.C. Engle, 110th ENMC International workshop: the congenital cranial dysinnervation disorders (CCDDs). The Netherlands, 25-27 October, 2002, Neuromuscul Disord (2003), 13, pp. 573–578. 11- Basic and clinical science course, section 5, neuro-ophthalmology, American Academi of Ophthalmology, 2004-2005.pp 235- 236. 12- B. Chua, K. Johnson, C. Donaldson and F. Martin, Management of Duane retraction syndrome, J Pediatr Ophthalmol Strabismus (2005), 42, pp. 13–17. 13- N.J. Gutowski, Duane syndrome, Eur J Neurol (2000), 7, pp. 145– 149. 14- D.D. Pfaffenbach, H.E. Cross and T.P. Kearns, Congenital anomalies in Duane’s retraction syndrome, Arch Ophthalmol (1972), 88, pp. 635– 639. 15- M.E. Barbe, W.E. Scott and P.J. Kutschke, A simplified approach to the treatment of Duane’s syndrome, Br J Ophthalmol (2004), 88, pp. 131–138. 16- Patrick A. DeRespinis, Anthony R. Caputo , Rudolph S. Wagner and Suqin Guo, Duane's retraction syndrome, Survey of Ophthalmology, (1996), 40, pp. 423. 17- G. Woodruff, J. Biencic and J. Morin, Horner's syndrome in children, J Pediatr Ophthalmol Strabismus (1988), 25, pp. 40–44. 18- A.R. Jeffery, F. Ellis, M.X. Repka and J.R. Buncic, Pediatric Horner syndrome, J Am Assoc Pediatr Ophthalmol Strabismus (1998), 2, pp. 159–167. 19- N. George, G. Gonzalez and C. Hoyt, Does Horner's syndrome in infancy require investigation?, Br J Ophtahlmol (1998), 82, pp. 51–54. 20- B. Gesundheit and M. Greenberg, Medical mystery: brown eye and blue eye—the answer, N Engl J Med (2005), 353 (22), pp. 2409–2410. 21- M. Musarella, H. Chan, G. DeBoer and B. Gallie, Ocular involvement in neuroblastoma, Ophthalmology (1984), 91, pp. 936–940. 22- D. Shewmon, Unilateral straight hair and congenital Horner syndrome due to stellate ganglion tumor, Ann Neurol (1983), 13, pp. 345–346. 23- A. Sayed, B. Miller, E. Lack, S. Sallan and R. Levey, Heterochromia iridis and Horner's syndrome due to paravertebral neurilemmoma, J Surg Oncol (1983), 22, pp. 15–16. 24- J.A. Johnston and D. Parkinson, Intra-cranial sympathetic pathways associated with the sixth nerve. J Neurosurg (1974), 40, pp. 236–243. 25- Dwight Parkinson, Naokatsu Saeki and Shinji Hirai, Horner’s syndrome and sixth nerve palsy, Surg Neurol (1999), 52, pp.143–149. 26- Juan M. Abad, Fernando Alvarez and Martin G. Blazquez , An unrecognized neurological syndrome: Sixth-nerve palsy and Horner's syndrome due to traumatic intracavernous carotid aneurysm, Surgical Neurology, (1981), 16, pp. 140-144.