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C A S E R E P O R T JIACM 2006; 7(1): 53-4

* Senior Lecturer, T.N. Medical College and B.Y.L. Nair Charitable Hospital, Mumbai.

Moebius Syndrome

Mala V Kaneria* 

AbstractMoebius syndrome is a rare congenital disorder with the primary diagnostic criteria of congenital facial diplegia and 

abducent nerve palsy. Orofacial anomalies and limb malformations may be associated with the disorder. We report a

family (father and two sons) with a subset of the Moebius syndrome.

Key words: Congenital facial diplegia, Congenital nuclear agenesis, Congenital oculofacial paralysis, Smileless syndrome.

Introduction

Moebius syndrome is a rare syndrome with congenital non-

progressive bilateral facial and abducens nerve palsy. It maybe associated with other craniofacial dysmorphisms and

congenital abnormalities of the extremities. It is usually

detected in infancy. We report three adult family members

with a subset of the Moebius syndrome.

Case report

 A 65-years-old male presented with 5 days history of fever,

headache, and vomiting. There was no history of 

convulsions or focal neurological deficit. The patient was

premorbid healthy and was not a hypertensive or diabetic.On examination, he was drowsy, but moving all the limbs.

Neck rigidity was present, plantars were bilaterally extensor.

There was no obvious evidence of any cranial nerve

involvement. Vital parameters were normal and all other 

systems were unremarkable on examination. All

biochemical parameters were normal except for 

leucocytosis (14,000/cmm). Fundoscopy showed early

papilloedema. Cerebrospinal fluid examination was

suggestive of pyogenic meningitis. ECG, chest radiography

and CT brain were normal.

The patient was treated with ceftriaxone in meningitic

doses and cerebral dehydrants for 14 days, to which he

responded. It was now noticed that he had bilateral ptosis

and difficulty in opening the mouth. His face was mask-

like, with difficulty in frowning and smiling. It was observed

that his two sons who were attending to him also had

these features, i.e., absence of frowning and bilateral

ptosis. All three of them also had a bilateral impairment of 

ocular abduction beyond the midline. On enquiry, they

informed that these features were present since birth.

There were no other siblings and nobody else in the family

had these features. Both the sons were unmarried.

In view of these findings of congenital facial diplegia,

bilateral ocular impairment of abduction, and bilateral ptosis,

Moebius syndromepedigree chart

Mother expired(Due to unrelated cause)

(Age = 18 yrs)Affected son

Autosomaldominant transmission

Affected father

(Age = 16 yrs)Affected son

Fig. 1: Photograph showing both the sons of the patient with a

smileless face and bilateral ptosis.

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these patients were diagnosed to have a subset of the

Moebius syndrome.

Comment

Moebius syndrome is manifested by congenital bilateralfacial and abducens palsy1. Other cranial nerve

involvement and musculoskeletal anomalies are

frequently associated1, 2.

It is an extremely rare condition, first described by Moebius

in 18882, 3. Its aetiology has been a subject of controversy:

primary nuclear hypoplasia versus degenerative brainstem

lesion versus primary muscular/peripheral nerve lesion1.

Cocaine and prostaglandin abuse is occasionally associated

with the occurrence of this syndrome2.

Most cases are sporadic, but autosomal-dominant,

recessive and X-linked patterns of inheritance have been

described3. Both sexes are equally affected3. Most cases

are diagnosed during infancy due to feeding problems,

inability to smile, and lack of facial movement during crying3.

Impairment of ocular abduction is frequently present

alongwith ptosis3.

Dysfunction of other cranial nerves, orofacial and limb

malformations, musculoskeletal defects, and mental

retardation commonly occur as associated features2. In

adulthood, the smileless face causes difficulty in social

interactions3.

Very few patients have been reported in literature with

facial diplegia and bilateral abduction weakness alone,

in the absence of craniofacial and limb

malformations2. These could be considered a subset

of Moebius syndrome2. Our three patients, the father 

and his two sons also had congenital bilateral facial

diplegia and bilateral abduction weakness, but no

limb malformations. They had no other siblings and

their mother who was no more, was apparently

normal. Considering this, they probably had a milder 

subset of the syndrome with an autosomal dominant

transmission.

The condition has to be differentiated from congenital

muscular dystrophy, congenital myopathies, etc3. No

diagnostic laboratory studies are specific for Moebius

syndrome3. CT and MRI of brain may be entirely normal or 

may show symmetrical punctate calcification andbrainstem hypoplasia1.

Moebius syndrome is congenital and non-progressive3.

Treatment is supportive and symptomatic in nature3. Facial

immobility causes social embarrassment, with increasing

age3. Facial reanimation using free pectoralis minor 

transfer is an invaluable aid to such patients and allows

for greater social interaction by means of the ability to

smile4. Support groups are available in many countries3.

ConclusionMoebius syndrome is a rare disorder presenting with

congenital facial diplegia, bilateral abducens nerve palsy

with or without craniofacial anomalies and musculoskeletal

abnormalities. The subset that presents with isolated facial

diplegia and abducens palsy may be detected in

adulthood due to the inability to smile, which may be a

cause of social embarrassment. Facial reanimation

procedures are available to bring back the smile into their 

lives. Support groups are also available in many

countries.

References

1. Igarashi M, Rose DF, Storgion SA. Moebius syndrome

and central respiratory dysfunction. Pediatr Neurol 1997; 16: 237-40.

2. Harriette TFM, Bert van der Zwaag, Johannes RM,

Padberg GW. Moebius syndrome redefined- A

syndrome of rhombencephalic maldevelopment.

Neurology  2003; 61: 327-33.

3. Cheryl Ann Palmer. Moebius syndrome http://

www.emedicine.com/neuro/topic612.htm

4. Sabbagh AU, Shafighian A, Harrison DH. Upper labial

deficiency in Moebius syndrome: a previously

unreported feature and its correction. Plastic and 

Reconstructive Surgery  2003; 112 (7): 1762-7.

54 Journal, Indian Academy of Clinical Medicine     Vol. 7, No. 1     January-March, 2006