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.