|Year : 2022 | Volume
| Issue : 1 | Page : 70-72
Moebius Syndrome: A Case Report with Unique Features
Divya Ramraika, Pradeep Kumar, Bithi Chowdhury
Department of Ophthalmology, Hindu Rao Hospital, Delhi, India
|Date of Submission||26-Nov-2021|
|Date of Acceptance||26-Dec-2021|
|Date of Web Publication||17-Jan-2022|
Dr. Bithi Chowdhury
Department of Ophthalmology, Hindu Rao Hospital, Delhi
Source of Support: None, Conflict of Interest: None
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
| Introduction|| |
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., It may also be associated with other cranial nerve palsies, orofacial anomalies, and limb defects. 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.
| Case Report|| |
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 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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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|| |
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. 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., Speech problems are said to occur in 76% to 90% of patients. 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. 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. 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.
Abnormal binocular vision with a loss of stereopsis has been documented in MBS; however, significant refractive error has rarely been reported. In our case, the anisometric amblyopia and head tilt were possibly due to the uncorrected refractive error over long period. The horizontal nystagmus reported in our case is a rare occurrence and most authors reported the presence of optokinetic nystagmus associated with MBS.,
Hearing impairment is frequently noted among children and respiratory infections have also been reported., In one case study, an asymmetric paranasal sinus on X-ray has been documented. 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|| |
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]