Duane's retraction syndrome with facial hemiatrophy (a case report).
DC Sharma, PS Parihar, DC Kumawat, S Ramakrishnan, R Dave, HN Bhatnagar, LK Bhatnagar
Department of Medicine, R.N.T. Medical College and Hospital, Udaipur, Rajasthan, India., India
D C Sharma
Department of Medicine, R.N.T. Medical College and Hospital, Udaipur, Rajasthan, India.
This report deals with a young girl with Duane«SQ»s retraction syndrome who also had left facial hemiatrophy (Parry-Romberg syndrome). Report of such an association is probably first of its type to be documented in literature.
|How to cite this article:|
Sharma D C, Parihar P S, Kumawat D C, Ramakrishnan S, Dave R, Bhatnagar H N, Bhatnagar L K. Duane's retraction syndrome with facial hemiatrophy (a case report). J Postgrad Med 1990;36:51-3
|How to cite this URL:|
Sharma D C, Parihar P S, Kumawat D C, Ramakrishnan S, Dave R, Bhatnagar H N, Bhatnagar L K. Duane's retraction syndrome with facial hemiatrophy (a case report). J Postgrad Med [serial online] 1990 [cited 2023 Jan 29 ];36:51-3
Available from: https://www.jpgmonline.com/text.asp?1990/36/1/51/870
Duane's retraction syndrome is a congenital disorder of ocular motility,,,,. It is characterised by limitation of abduction, with retraction of the eye into the orbit and consequent narrowing of the palpebral fissure on adduction. Below, we report an uncommon case of this syndrome with an unusual association of left facial hemiatrophy.
A nine-year-old girl was brought to our medical outpatient department for the complaints of a squint on looking to the left, since early childhood and gradual thinning of the left side of the face for the last two years. There was no history of diplopia, headache, vomiting and any contributory illness in early childhood or illness in the mother during pregnancy. Her birth, development and education had been normal. All family members were well. She was normotensive and had scoliosis of the thoracic spine with convexity to the left. No other congenital anomaly was detected.
On examination, there was no squint in the primary position. The palpebral apertures were normal and equal on both sides on looking straight while on attempting to carry out abduction of the left eye, there was little movement with widening of the left palpebral aperture but normal movement of the right eye consistent with the left rectus paralysis (see [Figure:1]). On adduction of the left eye, the left palpebral aperture became narrow with retraction on the left eye ball but there was normal movement of the right eye (see [Figure:2]). Convergence was normal; forced duction test revealed limited lateral movement of the left eye with full range of medial movement. Neostigmine injection did not change the range of movement. The optic fundi, visual acuity, field of vision and colour vision were normal.
Her face showed typical features of facial hemiatrophy on the left side. The left forehead was smaller than the right; the left cheek was flattened and subcutaneous fat was less, the nose on the left side was smaller than the right (see [Figure:3]). Skiagram of the thoracic spine revealed scoliosis with convexity to the left. All routine investigations, skiagram of the cervical spine and skull, VDRL on serum and CSF were normal. Thyroid function tests were normal.
Absence of adduction of the left eye, and retraction and narrowing of palpebral aperture of the same eye on adduction in the present case are typical of Duane's retraction syndrome. Additionally, she had left facial hemiatrophy. To the best of our knowledge, such an association has not been reported in the literature. One-third of the patients reveals various musculoskeletal defects; this case also revealed scoliosis of the thoracic spine.
Duane's retraction syndrome has been reported in several families and the pattern of inheritance is best explained as irregular dominant. However, isolated cases like ours do occur frequently. The condition is slightly more prominent in females than males and more frequently affects the left side,, as in our case.
Hoyt and Nachtigaller emphasised that the lateral rectus muscle receives its nerve supply from the occutomotor nerve and that it therefore contracts when other third nerve muscles contract (such as in adduction) to produce retraction of the globe and narrowing of the palpebral aperture. Absence of diplopia as in this case, may be because of regional suppression when they look in the field of affected lateral rectus. Restriction of lateral movement of the left eye on forced duction test with normal medial movement suggests ankylosis of the medial rectus. This finding is consistent with the observations of Gunderson and Zeavin, who in all their operated cases found that lateral rectus was normal in size, position and elasticity. Further, they observed that although medial rectus was also normal in size, colour and position, it failed to stretch because of the presence of a dense fibrous band between the muscle belly of the medial rectus and the orbital wall. They disproved the theory put by Turk, who explained this phenomenon by assuming that there was an inelastic band replacing the lateral rectus which is responsible for restricted lateral movement. Cappellaro appears to be the first and the only one who has found the medial rectus and check ligaments bound to the medial orbit. Further, they  concluded in their series of 27 cases that: (1) the real cause of retraction syndrome is still unknown, (2) the most widely accepted theory of Turk must rarely be applicable, (3) the commonest defect is in the medial rectus, in which inelasticity and adhesions have been found in eight operated cases, and (4) the disease is variable in its manifestation. They also observed that: (a) no adduction beyond midline is commonest, (b) retraction is variable, and (c) convergent strabismus exists in one half of the reported cases.
They confirmed (a) its 2:1 incidence in females, (b) its 2:1 laterality to the left, and (c) its hereditary tendency.
Zauberman et al demonstrated with EMG studies as well as with surgical exploration, that this syndrome may be associated with supraneuclear deficit, neuclear / lower motor neurone deficit, or lesions of the muscle alone. The latter situation was documented in one case found to have fibrosis of the lateral rectus muscle with intact nerve supply.
Duane's retraction syndrome is known to occur in association with other congenital anomalies like Goldenhar syndrome (oculoauriculovertebra dysplasia),, cleft palate, cervical spina bifida, facial palsy, syringomyelia, Klippel-Feil anomaly, and perceptive deafness.
Facial hemiatrophy of Parry-Romberg syndrome is characterised by progressive wasting of some or all the tissues of one side of face. It is a disorder of uncertain aetiology, though much attempts have been made to classify this disorder as a form of lipodystrophy. There is no proof that facial hemiatrophy is a neuromuscular disorder. Electrophysiological studies of muscles and nerves in the affected side have not shown any consistent abnormalities. Muscle atrophy in this syndrome is postulated to be secondary to disappearance of fat and connective tissues. Therefore, it is difficult to establish a causal relationship between Duane's retraction syndrome and facial hemiatrophy.
Adams RD. In: "Principles of Neurology." 3rd edition, New York: McGraw Hill Book Company Inc; 1981, pp 929-951.|
|2||Aebli R. Retraction syndrome Arch Ophthalmol 1933; 10:602-610.|
|3||Asher SW, Berg BO. Progressive hemifacial atrophy. Report of three cases, including the one observed over 43 years, and computed tomographic findings. Arch Neurol 1982; 39:44-46.|
|4||Baker AB. In: "Clinical Neurology". Vol. 1, revised edition. Harper and Row, editors. Philadelphia: 1985, pp 100.|
|5||Cappellaro G. Diffetto congenito di motilito oculare dovuto a probabile malformazione del retto interno sinistro. Minerva Med 1926; 6:1021-1024.|
|6||Duane A. Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and obique movements of the eye. Arch Opthalmol 1905; 34:133-159.|
|7||Duke-Elder S. In: "System of Ophthalmology". Vol. 3. London: Henry Kimpton Medical Publishers; 1964, pp 991-997.|
|8||Fridenwald H. On movements of the eyelids associated with movements of the jaws and with lateral movements of the eyeballs. Bull Johns Hopk Hosp 1896; 7:134-136.|
|9||Fridenwald H. Notes on congenital motor defects of the eyeballs (congenital paralysis of the ocular muscles). Report of a case of bilateral paralysis of the external and paresis of the internal recti muscles. Bull Johns Hopk Hosp 1896; 7:202.|
|10||Gunderson T, Zeavin B. Society transactions: observation on the retraction syndrome of Duane. Arch Ophthalmol 1956; 55:576-580.|
|11||Hoyt WF, Nachtigaller H. Anomalies of oculomotor nerves; neuro-anatomic correlates of paradoxical innervation in Duane's syndrome and related congenital oculomotor disorders. Amer J Ophthalmol 1965; 60:443-448.|
|12||Kirkham TH. Duane's retraction syndrome and cleft palate. Amer J Ophthalmol 1970; 70:209-212.|
|13||Mellinger JR, Gomez MR. Agenesis of the cranial nerves. In: "The Hand Book of Clinical Neurology" Winken PJ, Bruyri GW, editor. Amsterdam: Elsevier/North Holland Biomedical Press; 1977, pp 395-414.|
|14||Sinclair WW. Abnormal associated movements of the eyelids. Ophthamol Rev London: 1895; 14:307-319.|
|15||Turk S. Ueber retractionsbewegungen der aufen. Deutsch med Wchnscher deipz 1896; 22:199-201.|
|16||Velez G. Duane's retraction syndrome and cleft palate. Amer J Ophthalmol 1970; 70:209-212.|
|17||Walsh FB, Hoyt WF. Duane's congenital retraction syndrome. In: “Clinical Neuro-Ophthalmology”. 3rd Edition. Baltimore: The Williams and Wilkins Company; 1969, pp 263-269.|
|18||Walton JN. Facial hemi-atrophy. In: “Brain's Diseases of the Nervous System.” 9th edition, London: Oxford University Press; 1985, pp 387-388.|
|19||Zauberman H, Magora A, Chaco J. An electromyographic evaluation of the retraction syndrome Amer J Ophthalmol 1967; 64:1103-1108.