CONCLUSION
MBS is a rare disease with heterogeneous diagnostic criteria leading to an increased chance of misdiagnosis. Investigation of such patients should include mainly an MRI of the brainstem.
Amongst the associated symptoms, respiratory distress and feeding difficulties due to craniofacial anomalies are common findings. These patients should be refered to the ENT specialist, besides detailed examination by the pediatrician, ophthalmologist, neurologist, psychotherapy and support groups for the parents.
ABBREVIATIONS:
MBS – Moebius syndrome
CN – cranial nerve
ENT – Ear, Nose and Throat
MRI – magnetic resonance imaging
NICU - neonatal intensive care unit
Figure legends:
Figure 1 – Mask-like face appearance of MBS patient, with wide nasal root, oblique palpebral fissure, bilateral convergent strabismus (gaze palsy) and ptyalism
Figure 2 –a) left hand brachydactyly and simian crease; b) left hand brachydactyl; c) right hand brachydactyly and simian crease; d) right hand brachydactyly
Figure 3 – fibroscopic view of larynx during expiratory phase after supraglottoplasty
Figure 4 - Axial T2-weighted image shows bilateral absence of the facial colliculus in the pontine tegmentum (vertical arrows). The fourth ventricle has an inverted V shape. At the level of middle cerebellar peduncles there are no radiologic traces of abducens nerves; the arrows (horizontal arrows) depict the normal trajectory of abducens nerves at this level.