OBJECTIVE: To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis. METHODS: A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4). CONCLUSION The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.
Male ; Humans ; Neurofibromatosis 2/genetics* ; Genes, Neurofibromatosis 2 ; Oculomotor Nerve Diseases/genetics* ; Computational Biology ; Genomics ; Mutation

OBJECTIVES: Oculomotor nerve palsy is a kind of disease with many causes, showing eye movement disorders, abnormal eyelid position, and/or damage of the pupil. The etiology of oculomotor nerve palsy in different departments is different. The study discussed the etiology, localization of the lesion, and prognosis for oculomotor nerve palsy firstly diagnosed in department of ophthalmology. METHODS: Clinical data of 137 hospitalized patients with oculomotor nerve palsy at the Department of Ophthalmology, the First Medical Center of PLA General Hospital from 2009 to 2018 were retrospectively collected. The etiology and its distribution characteristics in different age groups, the location of the lesion, and the prognosis of patients were analyzed. RESULTS: In 137 patients, the top 3 causes for oculomotor nerve palsy were head trauma (38.69%), cavernous sinus lesions (12.40%), and orbital inflammation (9.49%). Other causes included intracranial aneurysm, the intracranial space-occupying lesion, cerebral vessel diseases, infection, orbital tumors, diabetes, the operation of nasal cavity. Traumatic oculomotor nerve palsy was more common in young adults aged 20-49 years and in the patients with cerebral vascular disease in elderly people aged 60-69 years, while diabetic oculomotor nerve palsy is common in middle-aged and elderly people aged 50-69 years. The age distribution of other etiological types was relatively balanced. Seventy-five cases of orbital apex lesions were due to trauma, inflammation, infection, and tumor; 40 cases of cavernous sinus lesions were due to inflammation, tumor, and thrombosis; 6 cases of subarachnoid lesions were due to aneurysms, tumors, and trauma; 5 cases were oculomotor nucleus lesions were due to infarction; 11 cases could not be allocated because of unknown etiology. After treatment, the corrected visual acuity of oculomotor nerve palsy side was not significantly improved. The patients with oculomotor nerve palsy caused by intracranial aneurysm, cerebrovascular disease, and diabetes mellitus had the highest proportion of partial or complete recovery from ptosis and ocular dyskinesia. CONCLUSIONS Oculomotor nerve palsy is a common cause of ophthalmoplegia and diplopia. Head trauma, cavernous sinus lesions, and orbital inflammation are the most common causes for oculomotor nerve palsy first diagnosed in ophthalmology department. Traumatic oculomotor nerve palsy is common in adolescents. Oculomotor nerve palsy caused by diabetes and cerebrovascular disease are common in the middle-aged and elderly people. Most of the lesions locate in the orbital apex and cavernous sinus. The prognosis of corrected visual acuity is poor. The prognosis of ptosis and ocular dyskinesia caused by intracranial aneurysm, cerebrovascular disease, and diabetes is good. Figuring out the cause timely and accurately is the basis and key to treat oculomotor nerve palsy.
Adolescent ; Adult ; Aged ; Cavernous Sinus ; Humans ; Middle Aged ; Oculomotor Nerve Diseases/etiology* ; Ophthalmoplegia ; Prognosis ; Retrospective Studies ; Young Adult

A 56-year woman presented eyeball pain and blurred vision. MRI revealed a small well-delineated solid tumor in the apex of right orbit with optic nerve compression. Intraoperatively, the tumor was found very fibrous, hypervascular and adhesive to surrounding structures. The tumor was completely removed with the combination of endoscopic and microscopic technique. Patient experienced transient oculomotor nerve palsy, which completely recovered 3 months after surgery. Herein we report a rare case of angioleiomyoma in the orbital apex.
Adhesives ; Angiomyoma ; Endoscopy ; Female ; Humans ; Magnetic Resonance Imaging ; Oculomotor Nerve Diseases ; Optic Nerve ; Orbit ; Orbital Neoplasms

Upon review, it is noted that recurrent painful ophthalmoplegic neuropathy (RPON) is a rare neurological syndrome characterized by recurrent unilateral headaches and painful ophthalmoplegia of the ipsilateral oculomotor nerve. As seen on brain MRI, thickening and enhancement of the oculomotor cranial nerve can be observed in these cases. We experienced a case of RPON in an adult patient who showed thickening and enhancement of the oculomotor nerve on gadolinium-enhanced 3D-FLAIR image. The authors report a case of RPON with a review of the literature.
Adult ; Brain ; Cranial Nerves ; Headache ; Humans ; Magnetic Resonance Imaging ; Oculomotor Nerve ; Oculomotor Nerve Diseases ; Ophthalmoplegia ; Paralysis

No abstract available.
Aneurysm ; Carotid Artery, Internal ; Fibromuscular Dysplasia ; Oculomotor Nerve Diseases ; Oculomotor Nerve

No abstract available.
Carotid Artery, Internal ; Embolization, Therapeutic ; Endovascular Procedures ; Humans ; Intracranial Aneurysm ; Oculomotor Nerve Diseases ; Paralysis

PURPOSE: To report a case of pituitary apoplexy presenting as isolated bilateral oculomotor nerve palsy. CASE SUMMARY: A 46-year-old male presented with bilateral ptosis and acute severe headaches for 6 days. He underwent head surgery and bilateral vitrectomy 12 years prior to his visit because of ocular and head trauma. He mentioned that previous visual acuities in both eyes were not good. The initial corrected visual acuity was finger counting in the right eye and 20/500 in the left eye. Ocular motility testing revealed the limitation of adduction, supraduction, and infraduction with complete bilateral ptosis in both eyes, and his left pupil was dilated. He was diagnosed with an isolated bilateral oculomotor nerve palsy. Magnetic resonance imaging indicated pituitary gland hemorrhage with a tumor, which was suspicious of pituitary apoplexy. The patient was treated intravenous with 1.0 g methylprednisolone to prevent the corticotropic deficiency. In addition, he underwent surgical decompression using a navigation-guided transsphenoidal approach and aspiration biopsy. He was confirmed with pituitary adenoma using a pathological examination. The patient's ocular movements began to dramatically improve by the third day postoperatively. At 4 months postoperative follow-up, his ocular movement and double vision were completely recovered. CONCLUSIONS: This was a rare case of pituitary apoplexy with bilateral isolated oculomotor nerve palsy, which was the first report in the Republic of Korea. A full recovery was achieved after early surgical treatment.
Biopsy, Needle ; Cranial Nerve Diseases ; Craniocerebral Trauma ; Decompression, Surgical ; Diplopia ; Fingers ; Follow-Up Studies ; Head ; Headache ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Male ; Methylprednisolone ; Middle Aged ; Oculomotor Nerve Diseases ; Oculomotor Nerve ; Pituitary Apoplexy ; Pituitary Gland ; Pituitary Neoplasms ; Pupil ; Republic of Korea ; Visual Acuity ; Vitrectomy

Oculomotor nerve palsy limits the specific direction eyeball movement, and represents diplopia, mydriasis, and ptosis. The vascular-associated etiologies of oculomotor nerve palsy are the microvascular ischemia due to hypertension or diabetes, or compression of the nerve by the aneurysm. For the aneurysm, if not treated properly, it may result in mortality or severe neurological impairment. Thorough history taking, physical examinations, and proper imaging modality are needed to make an accurate diagnosis. A 76-year-old female with decreased mentality and anisocoria presented at our emergency department. An 83-year-old female presented with right ptosis and lateral-side deviated of the right eyeball. No definite lesion was noted on the initial non-contrast brain computed tomography (CT) and magnetic resonance imaging diffusion. An aneurysm was detected on CT angiography taken several hours later in the former patient. For the latter patient, a giant aneurysm was detected on magnetic resonance angiography that had been performed at another hospital 4 days earlier. These two patients underwent transfemoral cerebral angiography with coiling. They were discharged with no neurological sequelae.
Aged ; Aged, 80 and over ; Aneurysm ; Angiography ; Anisocoria ; Brain ; Carotid Artery, Internal ; Cerebral Angiography ; Diagnosis ; Diffusion ; Diplopia ; Emergency Service, Hospital ; Female ; Humans ; Hypertension ; Ischemia ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Mortality ; Mydriasis ; Oculomotor Nerve Diseases ; Oculomotor Nerve ; Physical Examination

PURPOSE: To evaluate the effect of periosteal fixation in patients with large-angle paralytic strabismus that was not corrected through conventional strabismus surgery. METHODS: Four eyes of three patients with large-angle paralytic strabismus who underwent periosteal fixation from June 2014 to August 2014 were examined. All patients presented with exotropia > 50 prism diopters (PD). Two of them showed exotropia caused by chronic complete oculomotor nerve palsy; the other two showed exotropia caused by medial rectus muscle injury during endoscopic sinus surgery. RESULTS: The mean preoperative exodeviation using the Krimsky test was 58 ± 29 PD. The postoperative values were 6.5 ± 9.4 PD at 1 week, and 11.25 ± 2.5 PD at 6 months. The mean surgical effect of exodeviation was 43.75 ± 21.36 PD. CONCLUSIONS: Periosteal fixation is an effective surgery for the management of paralytic strabismus that was not corrected through conventional strabismus surgery.
Exotropia ; Humans ; Oculomotor Nerve Diseases ; Strabismus

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.
Axons ; Cranial Nerves* ; Diagnosis ; Duane Retraction Syndrome ; Fibrosis ; Magnetic Resonance Imaging ; Methods ; Muscles ; Oculomotor Nerve Diseases ; Trochlear Nerve Diseases