Congenital Multiple Ocular Motor Nerve Palsy Complicated by Splitting of the Lateral Rectus Muscle.

We report a case of congenital multiple ocular motor nerve palsy combined with splitting of the lateral rectus muscle (LR). A 59-year-old Japanese female was investigated for worsening esotropia after corrective surgery. She presented with left hypertropia (35Δ) and esotropia (45-50Δ). Orbital magnetic resonance imaging (MRI) showed reduced belly sizes in the superior rectus, inferior rectus, and superior oblique muscles and splitting of the LR, extending from the origin to the belly, in the left eye. Splitting of the LR belly was detected on MRI in a case of congenital multiple ocular motor nerve palsy.

Congenital Third Nerve Palsy Associated With Midbrain Hypoplasia Due to Bilateral Segmental Internal Carotid Artery Agenesis.

A 15-year-old girl, diagnosed with a partial right third nerve palsy, was found to have bilateral internal carotid artery agenesis. Neuroimaging with 3D-constructive interference in steady state scanning identified the possible etiology of the third nerve palsy as midbrain hypoplasia.

Inferior oblique muscle anteriorization in congenital superior oblique palsy.

BACKGROUND: Inferior oblique muscle overaction of variable amounts is usually present with congenital superior oblique palsy. Inferior oblique muscle anteriorization has been described as a suitable surgical procedure in this entity. The aim of this study was to investigate the effect of inferior oblique muscle anteriorization in patients with congenital superior oblique palsy on vertical, torsional and horizontal alignment. PATIENTS AND METHODS: The study was designed as an institutional retrospective cohort study. 45 patients with congenital superior oblique palsy (15 female, 30 male; mean age 36 years ± 19.2 SD, ranging from 6 to 75 years) underwent inferior oblique muscle anteriorization between 2000 and 2010. Preoperative amounts of vertical, torsional and horizontal deviation (using Harms tangent screen), measurements of Bielschowsky head tilt phenomenon as well as stereopsis (Lang test) were compared with findings three months and one year postoperatively. RESULTS: Preoperative vertical deviation in primary position measured 10.1° (mean; range 0-19). Three months postoperatively vertical deviation was significantly reduced (p<0.001) to 4° (mean; range 0-20). After one year vertical deviation measured 3.5° (mean; range 0-15). The values three months postoperatively did not significantly differ from those one year postoperatively (p=0.46). CONCLUSIONS: Inferior oblique muscle anteriorization leads to a significant and sustained improvement of ocular alignment in patients with congenital superior oblique palsy of various degrees of severity. Thus the procedure is recommendable as a first line treatment in this clinical situation.

The Oculomotor Nerve: Anatomy and Pathology.

The oculomotor nerve is the third cranial nerve, exiting the brainstem in the medial border of the cerebral peduncle, from where it crosses straight to the superior orbital fissure. It is a purely motor nerve responsible for the innervation of all the extraocular muscles, except the superior oblique and lateral rectus muscles. It also has parasympathetic pre-ganglionic fibers, responsible for the innervation of sphincter pupillae and ciliary muscles. Magnetic resonance imaging (MRI) is the best imaging exam to evaluate patients with clinical signs of third cranial nerve palsy. The oculomotor nerve can be affected by several diseases, such as congenital malformations, trauma, inflammatory or infectious diseases, vascular disorders, and neoplasms. This article aims to review the oculomotor nerve anatomy, discuss the best MRI techniques to evaluate each nerve segment, and demonstrate the imaging aspect of the diseases that most commonly affect it.

Congenital Ocular Neuromyotonia with Partial Third Nerve Palsy.

PURPOSE: We report the first case of congenital ocular neuromyotonia (ONM) and the results of strabismus surgery for this patient's co-existing cranial nerve (CN) III palsy. PATIENTS AND METHOD: The patient presented at 18 months with strabismus that had reportedly been present since the time of birth. On exam, she had persistent exotropia (RXT) and hypertropia (RHT) with episodes of esotropia in the right eye that could be evoked by sustained left gaze. A diagnosis of ONM with partial CN III palsy was made. T1-weighted, T2-weighted, and fluid-attenuated inversion recovery magnetic resonance imaging failed to reveal intracranial pathology. RESULTS: Gaze induced intermittent esotropia resolved with carbamazepine. Surgery was performed to improve the patient's RXT and RHT. Post-operatively, the patient's RXT had improved from 12 to 15 prism diopters (∆) at near and 20∆ at a distance to 10∆ RXT at near with no horizontal deviation at distance. Her deviation has remained stable for 13 years, as has her neurological exam and good state of health. CONCLUSION: This case demonstrates that ONM may present congenitally and adds to the body of knowledge regarding surgical outcomes on concurrent CN palsies in these patients.

Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

PURPOSE: High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. METHODS: The subarachnoid portions of the CN3s were imaged with a 1.5-T MRI scanner and conventional head coils, acquiring heavily T(2)-weighted oblique axial planes 1-mm thick and parallel to the optic chiasm. Thirteen normal subjects, 14 with CFEOM, and 3 with congenital CN3 palsy were included. Digital image analysis was used to measure CN3 diameter, which was correlated with motility findings. RESULTS: In CFEOM, CN3 diameter was bilaterally subnormal in eight subjects, unilaterally subnormal in three subjects, and normal in three subjects. Mean +/- SD CN3 diameter in CFEOM was 1.14 +/- 0.61 mm, significantly smaller than the diameter in normal subjects, which measured 2.01 +/- 0.36 mm (P < 0.001). CN3 diameter variably correlated with clinical function. One subject with congenital CN3 palsy showed bilateral CN3 hypoplasia, but CN3 diameter was normal in two other subjects with congenital CN3 palsy. CONCLUSIONS: Unilateral or bilateral hypoplasia of CN3 is quantitatively demonstrable using MRI in many cases of CFEOM and occasionally in congenital CN3 palsy. Variations in CN3 diameter in CFEOM and congenital CN3 palsy suggest mechanistic heterogeneity of these disorders that may be clarified by further imaging and genetic studies.

Management of congenital elevation deficiency due to congenital third nerve palsy and monocular elevation deficiency.

PURPOSE: To document the presentation and management of congenital III nerve palsy and monocular elevation deficiency to single ophthalmologist over a 14-year period. Surgical management was reviewed and visual outcome was analysed. METHODS: A retrospective study was conducted of all patients presenting during a period between 1992 and 2006 to the private practice of a paediatric ophthalmologist, with either congenital III or monocular elevation deficiency. For patients requiring surgical intervention pre- and post-surgical data were documented and analysed. RESULTS: A total of 19 congenital III and 13 monocular elevation deficiency patients were identified. There were eight surgical patients in each congenital III nerve palsy group and in the monocular elevation deficiency group. The congenital III group had a preoperative mean exotropia for near of -36 prism dioptres (PD) compared with postoperative mean exotropia for near -16 PD. Preoperative mean hypotropia for near of -19 PD was improved to postoperative mean hypotropia of -5 PD. The monocular elevation deficiency group had preoperative mean esotropia for near of +6 PD compared with postoperative mean exotropia for near -5 PD. Preoperative mean hypotropia for near of -15 PD was improved to postoperative mean hypotropia of -7 PD. At last follow up both groups had a majority of mild or no amblyopia noted. CONCLUSION: Superficially, congenital III and monocular elevation deficiency may appear similar, both frequently having ptosis and hypotropia as features. Careful clinical assessment of the horizontal alignment and the result of forced duction testing will usually allow them to be distinguished. Congenital III more frequently requires surgery for exotropia as well as surgery for hypotropia and monocular elevation deficiency more often requires surgery just for hypotropia. The ptosis surgery is similar for either diagnosis in this study. Significant cosmetic improvement, as well as excellent visual acuity outcomes can be achieved.

Ptotic lid elevation during contralateral head tilt.

Congenital abnormal synkinesis involving the eyelid, which is well described in the Marcus Gunn jaw-winking phenomenon, also has been reported in association with axons intended for facial musculature, extraocular muscles, and the pupil.(1,2) The subject of this report is a novel form in which the patient's ptotic eyelid elevated only during contralateral head tilt when the patient was upright, suggesting a congenital abnormality within the otolith-oculomotor pathway.

Transposition of Both Oblique Muscles Combined With Lateral Rectus Botulinum Toxin Injection and Globe Fixation Suture in the Treatment of Congenital Cranial Nerve III Palsy.

The authors report a new technique to treat complete cranial nerve III palsy. A 15-year-old girl underwent botulinum toxin injection into the lateral rectus muscle, nasal transposition of both the superior and inferior oblique muscles to the medial rectus insertion, and absorbable suture globe fixation to the nasal orbital periosteum. Six months postoperatively, her primary position eye deviation was within 12 prism diopters of orthotropia with limitation of ductions in all directions. [J Pediatr Ophthalmol Strabismus. 2017;54:e13-e17].

Congenital third nerve palsy with synergistic depression on attempted adduction and trigemino-oculomotor synkinesis: Underpinnings of a spectral dysinnervation disorder.

The authors describe a case of congenital partial pupil-sparing third cranial nerve palsy with absent adduction, synergistic depression of globe and widening of palpebral fissure on attempted adduction and synergistic elevation and adduction on mouth opening and sideways thrusting of jaw. The case illustrates trigemino-oculomotor synkinesis associated with congenital third nerve palsy. The possible mechanism of miswiring involving the medial longitudinal fasciculus and trigeminal nuclei is discussed. At least some cases of congenital third cranial nerve palsy may fall in the realm of congenital cranial dysinnervation disorders (CCDDs) sharing a much wider spectrum of presentation.

Congenital oculomotor nerve synkinesis associated with fetal retinoid syndrome.

INTRODUCTION: Isotretinoin (RA), used for the treatment of cystic acne, is a powerful teratogen, causing craniofacial dysmorphisms and neural tube defects. We present two patients with RA embryopathy and oculomotor nerve synkinesis. METHODS: Retrospective review of patient records. RESULTS: Two patients presented with third nerve synkinesis and fetal RA exposure. Both had marked elevation of the upper eyelids on adduction such that the lid fissures alternately opened and closed on gaze from side to side. Both patients showed typical dysmorphisms of RA embryopathy. The first patient had complete agenesis of the cerebellar vermix and died at 2 years. The second patient had restricted extraocular muscles in one eye and was exotropic and hypotropic. DISCUSSION: Both patients demonstrated simultaneous innervation of the medial rectus and levator palpebrae muscles causing coincident lid elevation in adduction. This evidence of oculomotor nerve synkinesis is consistent with animal studies showing abnormalities in the formation of cranial nerve ganglia following fetal RA exposure. CONCLUSION: RA is a powerful teratogen. These patients provide additional clinical evidence of its influence on neural migration during early development.

[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)]. / Die kongenitale Fibrose der äusseren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD).

Currently, different syndromes with congenital, nonprogressive, sporadic, or familial developmental abnormalities of the cranial nerves and its nuclei are classified as congenital cranial dysinnervation syndromes (CCDD). One of these syndromes, congenital fibrosis of extraocular muscles (CFEOM), is characterized mainly by bilateral ophthalmoplegia of the oculomotor and trochlear nerves. Within the scope of an overview, the case of a 60-year-old patient with congenital fibrosis of extraocular muscles type 1 (CFEOM1) with autosomal dominant inheritance and typical phenotype, but additional progression of the ocular symptoms, is presented. Symptoms were caused by the common C2860-->T mutation in exon 21 of the KIF21A gene on chromosome 12. Further CCDD syndromes include the following phenotypes: congenital ptosis, Duane syndrome, horizontal gaze palsy, Möbius' syndrome, and congenital facial palsy. There are 13 different known gene loci for one of these phenotypes. Five gene products have been identified: the kinesin motor protein Kif21a, the transcription factors ARIX and SALL4, and the carboxypeptidase CPAH.

Congenital cranial dysinnervation disorder in a boy with congenital mirror movements.

"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome. We report the case of a boy with an unusual incomitant strabismus consistent with orbital dysinnervation and suggest that for some patients with congenital mirror movements the neurological miswiring extends to the orbit, causing congenital cranial dysinnervation disorder.

Bilateral congenital oculomotor nerve palsy in a child with brain anomalies.

We treated a 3-month-old boy with bilateral congenital oculomotor nerve palsy in whom a magnetic resonance imaging scan demonstrated a developmental brain anomaly in the region of the basal ganglia. The pupil was normal on one side, and there was no aberrant regeneration of the oculomotor nerve. We could find no evidence for a peripheral oculomotor nerve lesion. This demonstrates that congenital oculomotor nerve palsy can be caused by brainstem disease. Embryologically, basal ganglia and oculomotor nuclei develop at the same time, and the Edinger-Westphal nucleus develops later. Thus, pupil sparing does not exclude a central origin for congenital oculomotor nerve palsy.

Clinical characteristics and surgical management of congenital absence of the superior oblique tendon.

We reviewed clinical characteristics and surgical results of nine patients with surgically proved congenital absence of the superior oblique tendon. The following factors indicate absence of the tendon in the setting of superior oblique palsy: (1) an associated horizontal deviation, (2) amblyopia, (3) a large hypertropia in primary position, (4) spread of comitance, and (5) pseudo-overaction of the contralateral superior oblique muscle. The nine patients required a total of 19 operations to correct their vertical and horizontal deviations. Surgical management was based on the preoperative action of the inferior oblique muscle, the amount of hypertropia in primary position, and intraoperative forced ductions. After their operations, eight of nine patients had improvement in or abatement of their symptoms, and seven of seven with preoperative head tilts had improvement of their head position.

Congenital oculomotor nerve palsy, cerebellar hypoplasia, and facial capillary hemangioma.

We saw two infants with the unusual combination of oculomotor nerve palsy, facial capillary hemangioma, cerebellar hypoplasia, and apparent gaze palsy. Systematic imaging of children with congenital oculomotor nerve palsy may lead to the recognition of more associated neurologic abnormalities that are not clinically apparent, as was the case in our patients.

Accessory lateral rectus muscle in a patient with congenital third-nerve palsy.

PURPOSE: To report a case of accessory lateral rectus muscle in a patient with congenital third-nerve palsy. DESIGN: Observational case report. METHODS: An 18-year-old boy with left exodeviation, ptosis, pupil dilation, and limited adduction, supraduction, and infraduction of his left eye. Left lateral rectus muscle recession and medial rectus muscle resection were done. An orbital computed tomographic (CT) scan was obtained. RESULT: Intraoperatively, an accessory muscle was found under the lateral rectus muscle. Postoperatively, the orbital CT scan showed accessory lateral rectus muscle located in the medial side of the lateral rectus muscle. CONCLUSION: Accessory lateral rectus muscle was demonstrated in a patient with congenital third-nerve palsy using lateral rectus muscle surgery and an orbital CT scan.

Clinical evidence for the onset of the sensitive period in infancy.

Seven neonates had a IIIrd or VIth nerve palsy or afferent visual pathway pathology at birth. These abnormalities resolved within 6 weeks and the children have developed normal visual acuity, motor fusion, and stereopsis. We conclude that there is a latent period of 6 weeks before the onset of the sensitive period.

Neurological impairment in congenital bilateral ptosis with ophthalmoplegia.

A case is described of congenital bilateral ptosis and ophthalmoplegia due to incomplete bilateral paralysis of the third cranial nerve associated with dysmorphisms, brain malformations and epileptiform EEG abnormalities. We hypothesize that in our case the ophthalmological disturbance is due to mesencephalic impairment. In literature there are few reports of congenital bilateral paralysis of the third cranial nerve and they lack detailed MRI findings. We stress in patients with congenital third cranial nerve palsy the importance of thorough neurological investigations including prolonged wake-sleep EEG monitoring as well as CT scan and MRI to establish the origin of the disorder.

Transient oculomotor nerve paresis in congenital distal basilar artery aneurysm.

The clinical and pathologic findings of a 10-month-old girl with congenital heart disease who died after rupture of a congenital distal basilar artery aneurysm are reported. The patient developed transient minimal oculomotor nerve paresis 7 days prior to suffering a massive subarachnoid hemorrhage. The finding of transient third nerve dysfunction, particularly in the context of recurrent syncope, should prompt investigation for an intracranial arterial aneurysm.