Möbius Syndrome as a Syndrome of Rhombencephalic Maldevelopment: A Case Report

Abstract

Möbius syndrome is a rare congenital disorder characterized by congenital facial weakness with impairment of ocular abduction. It is considered as a rhombencephalic disorder, and is often accompanied with hypoplasia of the pons and cerebellum. Here we report a male infant who had congenital facial asymmetry with absence of right-sided expression. Evident developmental delay was also found. The bilateral auditory brain stem response showed no response at 85dB. A reconstructive brain magnetic resonance imaging (MRI) revealed the absence of the right facial nerve as well as hypoplasia of the pons and cerebellum of the same side. Some voluntary contraction over the patient's right lower face was noted after facial muscle electrical stimulation.

Möbius Syndrome: Misoprostol Use and Speech and Language Characteristics

“…Both the location of anomalies and their severity vary from patient to patient, and a systematic study needs to be performed to recognize more clearly the pathogenesis of the disease. 9 10 We have found individuals with cleft palate and micrognathia-associated congenital clubfeet and changes in IX, X, XI and XII cranial nerves, similar to the authors mentioned previously. Such anomalies disrupt stomatognathic functions of sucking, chewing, swallowing, and speech and can slow the patient's motor development.…”

“…The most common complaint among mothers, after the absence of facial movements, referred to feeding and speech 2 12 13 ; however, problems as understanding language 16 and changes in neurologic examinations, such as calcifications and vascular changes, 10 17 were also discussed. The occurrence on the difficulty of understanding language 16 does not seem to be frequent; however, in our sample we found 33.3% of mothers who complained about this in their children.…”

“…When the cranial nerves (IX, X, XII, and XII) are also affected, 10 children have difficulty swallowing, and they lack of velopharyngeal sphincter closing and laryngeal incoordination. Speech will also be affected, 12 13 requiring speech therapy to produce phonemes, which often requires compensatory procedures.…”

The natural history of Möbius syndrome in a 32-year-old man

“…Reported radiological outcomes are very variable, from normal findings to different degrees of hypoplasia of the brainstem, especially of the pons and cerebellum, absence of the facial nerve and additional calcifications [16,17,25]. In our patient, brain MRI did not reveal any abnormalities.…”

“…Two hypotheses have been postulated. The first is developmental rhombomeric defect including the facial cranial nerve due to a genetic cause [6,16,17]. The second hypothesis, a vascular one, suggests hypoperfusion or occlusion in the watershed zones of the lower brainstem [1].…”