An ocular motility conundrum

BMJ Case Rep. 2014 Oct 27:2014:bcr2014206862. doi: 10.1136/bcr-2014-206862.

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.

Publication types

  • Case Reports

MeSH terms

  • Blepharoptosis / complications*
  • Brain Diseases / complications
  • Child
  • Cholinesterase Inhibitors / therapeutic use
  • Cysts / complications
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Myasthenic Syndromes, Congenital / complications*
  • Myasthenic Syndromes, Congenital / diagnosis*
  • Myasthenic Syndromes, Congenital / drug therapy
  • Ocular Motility Disorders / complications*
  • Pineal Gland / pathology
  • Pyridostigmine Bromide / therapeutic use

Substances

  • Cholinesterase Inhibitors
  • Pyridostigmine Bromide