Discussion
Moebius Syndrome is a rare and complex condition comprising usually two
or more CNs afflictions, typically the 7th and 6th, associated with
other limbs or craniofacial malformations and long term consequences on
a newborn somatic and cognitive development. Its etiology is either
genetic, as several studies point towards each of two 3q21-q22 or 10q
loci, or environmental.
The main clinical features of the disease in babies include incomplete
closure of the eyelids during sleep, incomplete closure of the lips,
mask-like face appearance (absence of any smiles), poor or absent
sucking, breathing difficulties, convergent strabismus, occasionally
associated with limb abnormalities like brachydactly, syndactyly or
Talipes equinovarus [2].
Even though MBS patients frequently undergo surgical procedures
addressing bone deformities, breathing or feeding difficulties or
ophthalmological dysfunction, no curative therapeutic resources exist,
so early recognition and intervention could improve the outcome on
patient’s life expectancy and quality of life. In selected cases, a
smile procedure can be performed, either by nerve transfer technique
which uses the masseteric nerve to restore innervation in the free
gracilis, or by muscle transfer technique (lengthening of the temporalis
muscle and suturing it to selected points on the ipsilateral corner of
the mouth) [4].
Even though respiratory failure is uncommon in MBS newborn [5],
different levels of respiratory distress as a consequence of the disease
have been described in such patients.
Difficulties were encountered to properly recognize the disease in our
presented case. Although the patient had an ENT, pediatric and
neurologic examinations, all failed to suspect the presence of the
syndrome.
Interestingly, after restoring the child’s normal breathing function,
which has been our main goal, by tracheostomy and surgical management of
laryngomalacia, it proved that the feeding had significantly improved,
not only qualitative but also quantitative, removing the need for a
nasogastric tube. Thus, there can be little to no feeding problems in
MBS newborns [5].
Other findings like the convergent strabismus, the bilateral
brachydactyly and the incomplete bilateral facial nerve palsy are to be
addressed individually at later stages of child development, after
assuring the patient follows a normal pediatric growth chart.
In our case, due to the small age of the infant, speech, cognition and
coordination tests could not be performed, but precocious supportive
surgical interventions could prove beneficial in his future, as some
studies show that MBS patients grow to have good speaking and reading
abilities, and normal intelligence, with only 10% to 15% to show some
degree of mental retardation.
Decannulation can only be considered at a later stage, after feeding and
weight development records a normal pattern, according to patients age.
Permanent tracheostomy can be taken into consideration if no additional
surgery of the upper airways can prove beneficial.
Surgery is only symptomatic, but restoring of facial movement should
best be addressed before the age of 4, before the patient reaches school
age, with contribution to both practical and psychosocial behavior.