Poland-Moebius syndrome: a case report.

BACKGROUND

The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system.

CASE

A 24-year-old man with Poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described.

OBSERVATIONS

In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures.

CONCLUSION

Contrary to many reported cases, this patient serves as a rare example of a progressive type of Poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process.