Congenital isolated nuclear oculomotor nerve palsy

Abstract

Congenital bilateral oculomotor nerve palsy is a rare condition which presents as ptosis, ophthalmoplegia and exotropia.It can be associated with global developmental delay and hypoxic-ischemic encephalopathy. Early diagnosis and interventions improves the outcome of disease. We present a girl child of age 1 year 3 months, having ptosis bilateral (left> right), exotropia, eye movements were restricted except in abduction. She had delayed milestones since birth with four-limb hypotonia and convulsions. Neurological examination revealed global developmental delay with developmental quotient of 53%, with signs of quadriplegic cerebral palsy, and microcephaly. MRI showed gliosis, encephalomalacia, and cortical atrophy in the left temporo-parieto-occipital lobe, reflecting perinatal vascular insult. Ophthalmological examination revealed pupil-sparing bilateral oculomotor nerve palsy without amblyopia or major refractive errors. Thorough studies excluded metabolic and infectious etiologies. This case illustrates the association of congenital oculomotor nerve palsy with other systemic neurologic conditions, such as HIE and GDD. This is mostly due to perinatal hypoxic insult. Treatment involves surgical correction of ptosis and alignment to prevent amblyopia and maximize visual potential

Keywords: Oculomotor Nerve Diseases, Developmental Disabilities, Ptosis, Ophthalmoplegia