Introduction
Moebius syndrome (MBS) or Moebius sequence [11Pedersen LK, Maimburg RD, Hertz JM, et al. Moebius sequence -a multidisciplinary clinical approach. Orphanet J Rare Dis . 2017;12(1):4. Published 2017 Jan 6. doi:10.1186/s13023-016-0559-z.] is a rare, non-progressive, neurological congenital defect characterized by uni- or bilateral congenital 7th and 6thcranial nerve paralysis and less commonly abnormalities of other cranial nerves (CN) III, IV and IX-XII, craniofacial, odontological, ophthalmological and orthopedic anomalies.
Facial diplegia, gaze palsy, dysphagia and breathing difficulties are associated with MBS. Approximately 90% of the newborns present with airway obstruction from associated craniofacial anomalies [222Cuestas G, Quiroga V, Zanetta A, Giménez E. Manejo de la vía aérea en el neonato con síndrome de Moebius. An Pediatr (Barc). 2019;91:264–267.].
The reported incidence of MBS is 1 case per 250,000 live births, with no sex variation. Prognosis is strictly dependant on the degree of patient’s deficits but, with early recognition of the disease, there is hope for average developmental results by 5 years of age [33Picciolini O, Porro M, Cattaneo E, et al. Moebius syndrome: clinical features, diagnosis, management and early intervention. Ital J Pediatr . 2016;42(1):56. Published 2016 Jun 3. doi:10.1186/s13052-016-0256-54 Choi JY, Kim HJ, Moon SY. Management of the paralyzed face using temporalis tendon transfer via intraoral and transcutaneous approach: Temporalis tendon transfer. Maxillofac Plast Reconstr Surg . 2018;40(1):24. Published 2018 Sep 5. doi:10.1186/s40902-018-0160-65 Sjögreen L, Andersson-Norinder J, Jacobsson C. Development of speech, feeding, eating, and facial expression in Möbius sequence. Int J Pediatr Otorhinolaryngol . 2001;60(3):197-204. doi:10.1016/s0165-5876(01)00532-8].
Management of MBS patients remain supportive and symptomatic, with main focus on restoring normal breathing and feeding functions when needed and long term psychological, physical, occupational and speech therapy.
We present the case of an infant with MBS who presented to our hospital with breathing and feeding difficulties and discuss the challenges around the diagnosis and treatment of such a patient. Written informed consent from the child’s parents and approval from the Hospital’s Ethics Board were obtained.