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   Table of Contents      
CASE REPORT
Year : 2022  |  Volume : 8  |  Issue : 1  |  Page : 70-72

Moebius Syndrome: A Case Report with Unique Features


Department of Ophthalmology, Hindu Rao Hospital, Delhi, India

Date of Submission26-Nov-2021
Date of Acceptance26-Dec-2021
Date of Web Publication17-Jan-2022

Correspondence Address:
Dr. Bithi Chowdhury
Department of Ophthalmology, Hindu Rao Hospital, Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mamcjms.mamcjms_126_21

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  Abstract 


We report a case of a 13-year-old female who presented in the medical emergency with seizures and was referred to the ophthalmology department for fundus examination. On examination, she was found to have bilateral asymmetric VIth and VIIth nerve palsy, bilateral horizontal gaze paresis (right > left), tongue atrophy, mask-like face, normal intelligence, prominent lower lip, and history of treated club foot. She was diagnosed to have Moebius syndrome based on the above findings. She also had some atypical features such as head tilt, significant refractive error, anisometric amblyopia, and horizontal nystagmus. Her computed tomography scan of the head revealed neurocysticercosis.

Keywords: Anisometric amblyopia, head tilt, horizontal gaze palsy, Moebius syndrome


How to cite this article:
Ramraika D, Kumar P, Chowdhury B. Moebius Syndrome: A Case Report with Unique Features. MAMC J Med Sci 2022;8:70-2

How to cite this URL:
Ramraika D, Kumar P, Chowdhury B. Moebius Syndrome: A Case Report with Unique Features. MAMC J Med Sci [serial online] 2022 [cited 2022 May 24];8:70-2. Available from: https://www.mamcjms.in/text.asp?2022/8/1/70/335900




  Introduction Top


Moebius syndrome (MBS) is a rare disease with an incidence of 2 to 20 per million live birth and characterized by unilateral or bilateral nonprogressive congenital facial palsy with impairment of ocular abduction.[1],[2] It may also be associated with other cranial nerve palsies, orofacial anomalies, and limb defects.[3] This condition was originally described by Von Graefe in 1880 and later reviewed by the German neurologist P.J. Möbius in 1888. Most of the cases reported are sporadic in nature; however, in a few familial cases, autosomal dominant, autosomal recessive, and X-linked recessive inheritance pattern have been observed.[4]


  Case Report Top


A 13-year-old female patient was admitted in medicine department of a tertiary care hospital with chief complaints of generalized tonic clonic seizures. She was referred to ophthalmology department for fundus examination to exclude raised intracranial pressure. A comprehensive examination including detailed history was taken from the patient. There was history of recurrent upper respiratory tract infection and cervical lymphadenopathy and club foot which was treated with splint. There was no history of difficulty in feeding. Her birth history was unremarkable. Patient had three siblings, two sisters and one brother, who did not have any health-related issues. She was a student of VIIth grade and her cognitive skills were normal.

She complained of inability to close her right eye and watering from the same eye since birth. On general examination, the patient was thinly built and malnourished. She had a mask-like face. On ophthalmic examination, the best corrected visual acuity was 6/36 with +3.5 diopter sphere (DS) +1.0 diopter cylinder (DC) @180° in right and 6/6 with +0.5 DS in left eye. There was a right head tilt [Figure 1] and a bilateral VIth cranial nerve palsy with complete abduction defect in right eye and moderate abduction defect in left eye [Figure 2]. There was deficit in adduction in both the eyes, more pronounced in left eye. Convergence was restricted. There was bilateral horizontal gaze palsy (right > left). Asymmetric bilateral VIIth nerve palsy was present (right > left) with upper half of face more affected than the lower half. Lagophthalmos was present in right eye. Bells phenomenon was normal in both eyes. The eyes were orthophoric in primary position. Horizontal nystagmus was present. The Vth, VIIIth, IXth, Xth, and XIth cranial nerve examinations were normal. Tongue atrophy on the right half and posterior region was present and there was furrowing and mild deviation of tongue toward right side on protrusion of tongue [Figure 3]. Her otolaryngologic examination was unremarkable with a normal audiogram.
Figure 1 Right head tilt and thickened lower lip.

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Figure 2 Bilateral horizontal gaze palsy (right > left), complete absent abduction in right eye, partially absent adduction and abduction in left eye, and partially absent adduction in right eye.

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Figure 3 Right side tongue atrophy, furrow, and deviation of tongue.

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The anterior and posterior segment ocular examinations were normal. The computed tomography (CT) scan revealed multiple calcified granulomas in bilateral frontoparietotemporal region, left cerebellum suggestive of neurocysticercosis, and also a blocked right osteomeatal complex. The brain stem and cranial nerve nuclei were normal.

Her seizure was managed by the physician with antiepileptic drugs and her ophthalmic management included prescription of glasses, occlusion therapy for amblyopia, and bedtime lubricant ointment for ocular surface protection.


  Discussion Top


Our case had bilateral asymmetric VIth and VIIth nerve and unilateral XIIth cranial nerve palsy, and a treated club foot. There was also asymmetric adduction deficit in both eyes, resulting in a bilateral horizontal gaze palsy. Some unique features noted were the presence of head tilt, significant refractive error, anisometric amblyopia, horizontal nystagmus, history of recurrent upper respiratory infections, and a CT scan finding of blocked osteomeatal complex.

The prevalence of MBS is 0.0002% to 0.002% of births with no gender predilection.[1] Minimal criteria required for diagnosis are presence of congenital unilateral or bilateral non progressive facial weakness with limited ocular abduction. Facial diplegia is the most common symptom, hypoplasia of the tongue due to twelfth cranial nerve paralysis occurs in about 75% of patients, and other cranial nerve palsies are rare. In about 85% of all patients’ malformations of the extremities are observed, the most common malformations are talipes deformities and hypoplasia of digits, or syndactyly.[1],[5] Speech problems are said to occur in 76% to 90% of patients.[5] Three patterns of ocular motility alterations have been described. In pattern A, there is orthotropia in primary position with complete abduction and adduction defect, convergence insufficieny, and normal vertical versions. Pattern B is characterized by large angle esotropia with crossfixation in primary position with bilateral abduction defect and adduction sparing and pattern C is characterized by large angle exotropia in primary position with torticollis, complete absence of convergence, and vertical misalignment.[6] Our patient conforms to pattern A with predominant right gaze palsy. This is probably due to asymmetric damage to the cells of the VIth cranial nerve nucleus subserving the two lateral recti muscles and the interneuron of the medial longitudinal fasciculus subserving the two medial recti muscles during embryonic stage.[6] However, involvement of IIIrd cranial nerve nucleus may also be the cause of bilateral medial rectus weakness in this case as has been reported previously.[7]

Abnormal binocular vision with a loss of stereopsis has been documented in MBS; however, significant refractive error has rarely been reported.[6] In our case, the anisometric amblyopia and head tilt were possibly due to the uncorrected refractive error over long period.[8] The horizontal nystagmus reported in our case is a rare occurrence and most authors reported the presence of optokinetic nystagmus associated with MBS.[9],[10]

Hearing impairment is frequently noted among children and respiratory infections have also been reported.[11],[12] In one case study, an asymmetric paranasal sinus on X-ray has been documented.[10] Our case had a blocked osteomeatal opening in CT scan which is probably suggestive of chronic sinusitis.

Most frequently reported associations of MBS include hypogonadotrophic hypogonadism, congenital bilateral vocal cord paralysis, brachial malformations, orofacial abnormalities, absence or hypoplasia of the sternal head of the pectoralis major muscle, and anomalies of hand and digit and hearing defects.

The exact pathogenesis of this condition is unknown. Various theories which have been proposed include genetically determined vascular rhombencephalic disturbances in development, exposure to toxins, ischemic event occurring after the fifth week of pregnancy, and de novo genetic mutation.


  Conclusion Top


This case highlights the fact that presentation of MBS may be highly heterogenous. An early diagnosis and multidisciplinary approach to management is required to prevent complications and also assist in proper understanding of the pathophysiology of the disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kuklík M. Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases. Acta Chir Plast 2000;42:95-103.  Back to cited text no. 1
    
2.
Miller G. Neurological disorders. The mystery of the missing smile. Science 2007;316:826-7.  Back to cited text no. 2
    
3.
Broussard AB, Borazjani JG. The faces of Moebius syndrome: recognition and anticipatory guidance. MCN Am J Matern Child Nurs 2008;33:272-8.  Back to cited text no. 3
    
4.
Legum C, Godel V, Nemet P. Heterogeneity and pleiotropism in the Moebius syndrome. Clin Genet 1981;20:254-9.  Back to cited text no. 4
    
5.
Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 2003;61:327-33.  Back to cited text no. 5
    
6.
Carta A, Mora P, Neri A, Favilla S, Sadun AA. Ophthalmologic and systemic features in Möbius syndrome an Italian case series. Ophthalmology 2011; 118:1518–23.  Back to cited text no. 6
    
7.
Kulkarni A, Madhavi MR, Nagasudha M, Bhavi S. A rare case of Moebius sequence. Indian J Ophthalmol 2012;60:558-60.  Back to cited text no. 7
[PUBMED]  [Full text]  
8.
Davitt BV. Abnormal head postures: a review. Am Orthopt J 2001;51:137-43.  Back to cited text no. 8
    
9.
Abbas R, Qureshi AU, Ahmad TM, Butt TA. A neonate with Poland-Mobius syndrome. J Coll Physicians Surg Pak 2011;21:640-1.  Back to cited text no. 9
    
10.
Chorży M, Leśniewicz R, Posmyk R et al. The natural history of Möbius syndrome in a 32-year-old man. Neurol Neurochir Pol 2011;45:74-9.  Back to cited text no. 10
    
11.
Griz S, Cabral M, Azevedo G, Ventura L. Audiologic results in patients with Moebiüs sequence. Int J Pediatr Otorhinolaryngol 2007;71:1457-63.  Back to cited text no. 11
    
12.
Murdoch BE, Johnson SM, Theodoros DG. Physiological and perceptual features of dysarthria in Moebius syndrome: directions for treatment. Pediatr Rehabil 1997;1:83-97.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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