Unmasking a Mask-like Face

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7-year-old boy presented with history of “mask-like facies” from birth and inability to close both eyes fully. He was never seen to show any facial expressions such as smiling or crying. On examination, he had an expressionless face (Figure, A). His intelligence was normal for his age. He had facial diplegia, and bilateral bells phenomenon was noted with eye closure (Figure, B and Video; Video available at www.jpeds.com). He had strabismus, limitation of abduction in both eyes, and intermittent ptosis of right eye. Marcus Gunn jaw-winking was evident in the same eye on opening the mouth. His tongue was fissured, atrophic, and showed fasciculations (Figure, C and Video). His speech and hearing were normal. Retracted upper lip, high arched palate, and bilateral congenital talipes equinus varus were present. However, other systemic examination and magnetic resonance imaging scan of his brain were normal. Moebius syndrome is characterized by damage in the nucleus of the sixth and seventh cranial nerves, with subsequent facial palsy and abduction limitation of the eyes.1,2 Hearing loss, other cranial nerve dysfunction, and musculoskeletal and neurodevelopmental problems may also be present. This boy had features of VI, VII, and XII cranial nerve palsies, and the jaw-winking phenomenon was probably due the stray connections between the III and V cranial nerves. Complications of Moebius syndrome include poor nutrition, dysphagia, aspiration pneumonia, and corneal ulceration.3

Unilateral facial palsy can be easily detected, but bilateral may be missed. When a child presents with mask-like facies, bilateral facial palsy should be considered and, if present from birth, Moebius syndrome is more likely. Though there is no definite cure for Moebius syndrome, it would be better to diagnose this earlier so that early multidisciplinary support may be obtained. Clinical findings related to multiple cranial nerve palsy make this rare case interesting. n Adhisivam Bethou, DCH, DNB (Ped) Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) Pondicherry, India

References 1. Borbolla Pertierra AM, Acevedo Gonzalez P, Bosch Canto V, Ordaz Favila JC, Juarez Echenique JC. Eye and systemic manifestations of Mobius syndrome. An Pediatr (Barc). pii: S1695-4033(13)00427-X, http:// dx.doi.org/10.1016/j.anpedi.2013.10.023; 2014 Feb 25 [Epub ahead of print] Spanish. PMID: 24581746. 2. Kulkarni A, Madhavi MR, Nagasudha M, Bhavi S. A rare case of Moebius sequence. Indian J Ophthalmol 2012;60:558-60. 3. Suvarna J, Bagnawar M, Deshmukh CT. Moebius syndrome with total anomalous pulmonary venous connection. Indian J Pediatr 2006;73: 427-9.

Figure. Clinical photographs of the child showing A, mask like face, B, bilateral Bells phenomenon and C, fissured and atrophied tongue.

J Pediatr 2014;165:873. 0022-3476/$ - see front matter. Copyright ª 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.06.028

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Unmasking a mask-like face.

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