Transactions 29th European Strabismological Association Meeting – de Faber (ed) © 2005 European Strabismological Association, ISBN 04 1537 211 9

Moebius syndrome with limb abnormalities

E. Bas¸ar & T. Aras

Ists¸bul University, Cerrahpas¸a Medical Faculty, Department of Ophthalmology, Istanbul, Turkey

ABSTRACT:

Introduction: Moebius Syndrome is a rare congenital disorder with the primary diagnostic criteria of bilateral limited ocular abduction with or without esotropia, seventh nerve upper motor neuron palsy, sixth nerve palsy and twelft nerve palsy with atrophy of tongue. Some patients have orofacial anomalies and limb malformations. Mental retardation and autism have been reported.

Material and methods: Our case of Moebius syndrome (a 28 years old female) has been evaluated. The patient had been esotropia (nearly 40 degree) and bilateral limited abduction. She had abnormalty of the hands and feet. Both eyes had been found to have normal elevation and depression. Visual acuities were normal.

Results: Esotropia had successfuly corrected by surgical recession of both medial recti muscle. Satisfactory result was obtained.

Conclusion: In this poster, we present our patient’s face and eyes appearence as well as her limb abnormalities pictures. Also, we mention the teratment of this rare syndrome.

1INTRODUCTION

Moebius syndrome is classified under the congenital abduction deficits in ophthalmology. Firstly it was described by von Graefe in 1880 and more completely described by Möbius in 1881 (1). It was characterized by congenital facial diplegia and bilateral absent abduction. In addition 5th, 9th and 12th cranial nerve deficits and abnormalities of extremities such as clubfoot, brachydactyly, congenital amputation and absense (or hypoplasia) of the brachial musculature, particulary the pectoral muscule (Poland Syndrome) have been descibed within this syndrome (2). Here in this study, we present a case of Moebius syndrome with multiple limb abnormalities.

2CASE REPORT

28 years old female with bilateral congenital oculofacial palsy applied to our clinic for the treatment of marked esotropia on primary position.

On examination, her face expression was dull with flat lower face, bilaterally her abductions were absent beyond midline. Congenital multiple limb abnormalities were present such as syndactyly on feet and brachydactyly on right hand. Her left anterior arm was absent as well.

In her family history there were not such similar case. Her visual acuities were 10/10 with 0.50 glasses. She had latent nystagmus and nearly 40 degree esotropia (V-pattern) with asymetrical sixth nerve paralysis (Picture 1–2).

Vertical conjugate movement and convergence were normal. Her abduction and adduction were limited. Her slit lamp examination were normal. She was not able to whistle with facial diplegia. In addition she had bilateral mild lagophtalmos. Mentally, she was normal and her skeletal abnormalities (Picture 3–4). supported our diagnosis of Moebius syndrome.

She was operated under general anesthesia and bilateraly her medial rectus muscles were recessed 6 mm. Postoperatively with her glasses the esotropic deviation was reduced to 12 prism diopter on primary position.

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Picture 3. Patient’s feet abnormalities.

3DISCUSSION

Most syndromologist believe that Moebius is not syndrome but rather a true sequence, that is multiple etiologies potentially cousing some developmental insult with secondary ocurrences (3).

There are several teories that Moebius sequence is caused by vascular distruption in the developing brain stem. Destruction of the embrionic blood supply to the brain stem couses hypoxia and necrosis and also damage to the limb buds.

On the other side some researchers believe that the HOX developmental genes are responsible for initiating a sequence of events that results in destriction of the brain stem (2).

Resently MRI studies were performed for the neuroradiologic findings of Moebius Syndrome (4,5) This MRI studies were consistent with ischemic central nervous system demage. Like infact

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Picture 4. Patient’s hand and arm abnormalities.

in the head of coudate nucleus and in the cerebellopontine junction and ischemic changes in the thalamus. Also quadrigeminal plate abnormalities and pontine hypoplasia were mentioned (4,5). Different scheamas. of etiologies have been proposed in an attempt to understand the pathogenesis of his disorder. This categories Expanded Moebius Syndrome. Different schemas of etiologies have been proposed in an attempt to understand the pathogenesis of his disorder. These categories are summarized as follows: aplasia or hypoplasia of cranial nerve nuclei, cranial nerve nuclei destruction, peripheral nerve abnormalities and primary myopathies as the result of an hypoxic/ischemic event aplasia or hypoplasia resulting from hypoxic demage is proposed to have two possible etiologies. The first is vascular insufficiency secondary to an interruption of blood flow from the comperession of fetal vessels near the developing cranial nerve nuclei 6 and 7.

Multiple causes of the interruption of blood flow are proposed, including travma, plesental obruption, and others. The second possible etiology is an anomaly of cerebralcirculation development. Critical time of development can result in an hypoxic/ischemic lesion, which leads to Moebius Syndrome. Both of these etiologies can account for the concurrent skelatal anomalies observed in some patients (6,7).

4CONCLUSION

Our case features are consistant with the findings of Moebius Syndrome description in the literature (1,2,3,4,5,6,7).

Esotropia, V-pattern, abduction limitation and hyperopia are the main ophthalmic clinical findings of our case and multiple skeletal limb abnormalities and facial palsy were the other important characteristics of this syndrome or sequence. Unfortunately we were not able to obtain her mother’s history during her pregnancy for our case to illuminate whether there was a drug intake (benzodiazepine, thalidomide, misoprostol) (8) or another event to couse hypoxic or ischemic insult during early gestation (9).

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REFERENCES

1.Hall, C.J. 2000. Abduction deficits in strabismus: Differential diagnosis. Am. Orthoptic J. 50: 8–10.

2.Cronemberg, M.F., Moreria, J.B., Brunoni, D., Mendança, T.S., Alvarenga, E.H. et al. 2001. Ocular and clinical manifestations of Moebius’ Syndrome. J. Ped. Ophtal & Strabismus 38(3): 156–162.

3.Miller, M.T. 2000. Lateral rectus dysfunction and “associated things”. Am. Orthoptic J. 50: 47–63.

4.Lengyel, D., Zaunbauer, W., Keller E., Gottlob I. 2000. Möbius Syndrome: MRI findings in three cases.

J. Ped. Ophthalmology & Strabismus 37(5): 305–308.

5.K ratli, H., Erdener, U. 2000. A case report. Jpn. J. Ophthalm. 44: 679–682.

6.Peleg, D., Nelson, G., Williamson, R., Widness J. 2001. Expanded Möbius Syndrome. Pediatric Neurology. 24(4): 306–309.

7.Predza, S., Gamez, J., Rovira, A., Zamora, A., Grive, E., Raguer, N., Ruscalleda, J. 2000. MRI findings in Möbius syndrome: Correlation with clinical features. Neurology 55: 1058–1060.

8.Vargas, F.R., Schuler-Faccini, L., Brunoni, D., Kim, C., Meloni, V.F.A., Sugayama S.M.M., Albano, L., Lienera, J.C., Almeida, J.C.C., Duarte, A., Cavalcanti, D.P., Goloni-Bertollo, E., Conte, A., Koren, G., Addis, A. 2000. Prenatal Exposure to misoprostol and vascular disruption defects: A case-control study.

American Journal of Medical Genetics 95: 302–306.

9.Von Noorden, G.K. Campos Ec. 2002. Paralytic Strabismus. In Binocular Vision and Ocular Motilty. 440–442, St. Louis, Mosby.

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