A rare case of Moebius sequence

Abstract

We report a case of an 18-year-old male who presented with watering and inability to close the left eye completely since 6 months and inability to move both eyes outward and to close the mouth since childhood. Ocular, facial, and systemic examination revealed that the patient had bilateral complete lateral rectus and bilateral incomplete medial rectus palsy, left-sided facial nerve paralysis, thickening of lower lip and inability to close the mouth, along with other common musculoskeletal abnormalities. This is a typical presentation of Moebius syndrome which is a very rare congenital neurological disorder characterized by bilateral facial and abducens nerve paralysis. This patient had bilateral incomplete medial rectus palsy which is suggestive of the presence of horizontal gaze palsy or occulomotor nerve involvement as a component of Moebius sequence.

Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

“…Most patients express improved self-confidence and satisfaction with their new appearance and function [25,26]. Other therapies include physical, occupational, and/or speech therapy, eye lubrication to prevent exposure keratitis, and additional surgery to correct anatomical limb deformities [4,5,26]. A full description of the management of this disorder along with the multitudes of surgical options is beyond the scope of this paper, and readers are encouraged to look at the literature for further information.…”

“…CT or MRI imaging shows hypoplasia of the lower brainstem as well as other cerebral malformations including the absence of the middle cerebellar peduncles and the thinning of the corpus callosum [4,7,22,23]. Microcalcifications may be present in locations adjacent to the abducens nuclei possibly indicative of ischemic destruction [4,18,22,24].…”

“…MBS is a rare syndrome with an incidence of 1 in every 50,000 live births with no gender predominance [3,4]. The disorder presents with varying phenotype and severity resulting in unilateral or bilateral paralysis of the facial and abducens cranial nerves.…”

“…The disorder presents with varying phenotype and severity resulting in unilateral or bilateral paralysis of the facial and abducens cranial nerves. Other cranial neuropathies can also be found, most notably cranial nerves V, IX, X, and XII [4][5][6]. Some patients retain residual lower facial muscle activity suggesting aberrant innervation from other cranial nerves; some studies have suggested the possibility of cranial nerves V, IX, and XII [7].…”

“…Less severely affected patients present in early childhood or later with significant attenuation of developmental milestones including speech delay and impaired social skills [4,6]. Parental bonding with the newborn may be affected by the patient's lack of facial expressions [5,15].…”