Wernekink commissure syndrome is a rare midbrain syndrome with bilateral cerebellar dysfunction,eye movement disorder,and palatal myoclonus.Few cases of this syndrome have been reported in China,let alone those combined with hallucinations and involuntary groping.This paper reports the diagnosis and treatment of a case of Wernekink commissure syndrome with hallucinations and involuntary groping,aiming to enrich the knowledge about this disease for clinicians.
Humans ; Mesencephalon ; Ocular Motility Disorders/diagnosis* ; Spinal Cord ; Syndrome ; Hallucinations

Dorsal midbrain syndrome (DMS) is a supranuclear palsy of vertical gaze characterized by conjugate upgaze palsy, light-near dissociation, convergence-retraction nystagmus, lid retraction, and skew deviation. Majority of cases are due to primary midbrain lesions such as strokes or neoplasms, or due to pineal gland tumors compressing the said area. Presented here is the case of a 57-year-old male who came in with a chief complaint of diplopia and the typical signs of DMS. Cranial tomography scan revealed a parenchymal hemorrhage at the left thalamocapsuloganglionic region, a rarely reported site of a primary lesion causing DMS. In this case, the syndrome may have been a consequence of the mass effects and perilesional edema associated with the thalamocapsuloganglionic hemorrhage, or may have been due to disruption of supranuclear inputs to the dorsal mibdrain. This case provides further evidence that DMS may arise from lesions without obvious involvement of the said region. This case also highlights the importance of a thorough physical examination to elicit the findings associated with DMS, and the need to correlate these with a keen analysis of diagnostic test results.
Parinaud syndrome ; conjugate gaze spasm ; convergence insufficiency ; skew deviation

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

Fractures, Bone ; Humans ; Ocular Motility Disorders ; Orbit ; Retrospective Studies

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

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

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

PURPOSE: To evaluate the long-term efficacy of slanted lateral rectus recession in children for reducing distance and near exodeviation and near-distance deviation difference in intermittent exotropia with convergence insufficiency. METHODS: The medical records of 53 patients with convergence insufficiency intermittent exotropia who underwent slanted bilateral lateral rectus recession performed by a single surgeon and received follow-up for more than 12 months were retrospectively analyzed. Deviation angles at 1 day, 1 week, 1 month, 3 months, 6 months, and 12 months postoperatively and on the last visit were reviewed. Surgical success was defined as postoperative residual distance and near deviation angles ≤8 prism diopters and a difference between the near and distance angles ≤8 prism diopters. RESULTS: The mean duration of follow-up was 24 months (range, 12 to 61 months). On the last visit, the residual deviation angles were ≤8 prism diopters in 75.5% for distance, 62.3% for near, and 81.1% for the near-distance difference. Surgical success was achieved in 31 (58.5%) patients, and none of them manifested limitations in eye movements or diplopia at the last follow-up visit. CONCLUSIONS: Slanted lateral rectus recession is an effective surgical method for reducing distance and near exodeviation and near-distance deviation difference in intermittent exotropia with convergence insufficiency.
Child ; Diplopia ; Exotropia ; Eye Movements ; Follow-Up Studies ; Humans ; Medical Records ; Methods ; Ocular Motility Disorders ; Retrospective Studies

The dizziness associated with paraneoplastic neurologic syndrome is hard to diagnose clinically because the prevalence of disease is rare, and radiologic and serologic examination result may come out normal. Opsoclonus-myoclonus symdrome is a representative of classical paraneoplastic neurologic syndromes. In this paper, we report 2 cases of paraneoplastic neurologic syndromes with negative serologic auto-antibody test and no brain lesion on MRI. Both cases were eventually diagnosed through PET. Patients with opsoclonus-myoclonus type nystagmus should be evaluated for paraneoplastic neurologic syndrome even if their radiologic and serologic findings are normal.
Brain ; Dizziness ; Humans ; Magnetic Resonance Imaging ; Myoclonus ; Ocular Motility Disorders ; Opsoclonus-Myoclonus Syndrome ; Paraneoplastic Syndromes, Nervous System ; Prevalence

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