We report a case of congenital oculomotor nerve palsy presenting with aberrant eyelid movements and an involuntary pupillary reaction. A 24-year-old woman presented with mild anisocoria with no significant medical history. Her ocular history included a history of strabismus and levator muscle surgery. Examination revealed exotropia, hypotropia, and ocular motility impairment, consistent with right oculomotor nerve palsy. Pupillary examination revealed mild anisocoria with the right pupil being unreactive to dim light, followed by involuntary pupillary spasms unassociated with eye position. Twitch-like movements of the upper eyelid were also observed during the spasm phase. Orbital magnetic resonance imaging revealed atrophy of the extraocular muscles, particularly the medial rectus. No intracranial lesions were found and blood tests excluded conditions such as thyroid eye disease. Based on these findings, congenital oculomotor nerve palsy with aberrant regeneration was diagnosed. The patient remained asymptomatic and was managed conservatively. Six months later, no complications due to pupillary spasms or restriction of ocular motility were observed. This case highlights an unusual pupillary response in congenital oculomotor nerve palsy characterized by involuntary pupillary spasms accompanied by upper eyelid twitching, which has not been previously reported. The prognosis was likely favorable for asymptomatic patients without associated underlying causes.

To elucidate the imaging findings of congenital oculomotor nerve palsy by evaluating the oculomotor nerve and extraocular muscles on magnetic resonance (MR) imaging in a relatively large series of 14 patients with congenital oculomotor nerve palsy. Ophthalmologic examination of 14 consecutive patients diagnosed with congenital oculomotor nerve palsy, and MR imaging of the orbit and oculomotor nerves were performed. Of the 14 patients with congenital oculomotor nerve palsy, 13 patients (93%) were unilateral and 12 patients (86%) had incomplete palsy. On MR imaging, 5 patients (36%) had hypoplasia or aplasia of the oculomotor nerve with variable degrees of extraocular muscle atrophy on the affected side. Of the 14 patients, nine (64%) had normal-sized oculomotor nerves with or without muscle atrophy. The most frequently involved muscles were the inferior rectus (64%) and medial rectus (50%), followed by the superior rectus (29%) and inferior oblique muscles (14%). None of the 14 patients showed an abnormal abducens nerve. Congenital oculomotor nerve palsy was mostly incomplete and hypoplasia or aplasia of the oculomotor nerve was apparent in one third of patients showing variable degrees of extraocular muscle atrophy, mostly of the medial rectus and inferior rectus muscles.

The traditional approach for periosteal fixation of the lateral rectus muscle involves securing the muscle using nonabsorbable sutures by exposing the orbital periosteum 5 mm to the inside of the orbital margin. We present a simplified approach that exposes the orbital periosteum through a skin incision, providing more room and avoiding extraconal fat manipulation. We used our technique to expose the lateral orbital periosteum and suture the lateral rectus muscle to the periosteum using nonabsorbable sutures in 2 patients with exotropic Duane retraction syndrome and 1 patient with congenital oculomotor nerve palsy. All 3 patients had satisfactory postoperative alignment, with abduction limitation of 3-. Adduction improved in all patients. The patient with oculomotor nerve palsy had a small overcorrection in primary position that remained stable during follow-up of 18 months. There were no intraoperative complications. This modified approach to extraocular muscle periosteal fixation may be simpler than the standard approach. Further evaluation in a larger series of patients is warranted.

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

The authors describe a 2-year-old girl diagnosed as having posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities (PHACE) syndrome that presented with a large facial hemangioma of the forehead and eyelid, ptosis, microphthalmia, persistent pupillary membrane and pupillary ectopia, congenital oculomotor nerve palsy of the affected eye, and bilateral optic disc dysplasia. [J Pediatr Ophthalmol Strabismus. 2016;53:e72-e74.].