title: An ocular motility conundrum.
abstract: Two siblings, an 11-year-old boy and a 7-year-old girl presented with bilateral symmetrical ptosis and limited eye movements. Having already been reviewed on a number of occasions by a variety of specialists in multiple hospital settings a diagnosis of their ocular motility disorder had remained elusive. We describe their cases, outline the differential diagnosis and review the investigations performed which were influential in finally making a diagnosis.
authors.affiliation: Department of Ophthalmology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors.forename: Elizabeth Margaret
authors.initials: EM
authors.lastname: McElnea
authors.affiliation: Department of Ophthalmology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors.forename: Kirk
authors.initials: K
authors.lastname: Stephenson
authors.affiliation: Department of Ophthalmology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors.forename: Bernie
authors.initials: B
authors.lastname: Lanigan
authors.affiliation: Department of Ophthalmology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors.forename: Ian
authors.initials: I
authors.lastname: Flitcroft
mesh_terms: D001763:Blepharoptosis / Q000150:complications*; D001927:Brain Diseases / Q000150:complications; D002648:Child; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D003560:Cysts / Q000150:complications; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D015835:Ocular Motility Disorders / Q000150:complications*; D010870:Pineal Gland / Q000473:pathology; D011729:Pyridostigmine Bromide / Q000627:therapeutic use
chemical_list: D002800:Cholinesterase Inhibitors; D011729:Pyridostigmine Bromide