OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Christianson syndrome (CS). METHODS: A 1-year-and-5-month-old boy with CS diagnosed at the First Affiliated Hospital of Zhengzhou University in April 2021 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral blood samples were obtained from the child and his parents, followed by genomic DNA extraction and whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the Hospital of Zhengzhou University (Ethics No. 2024-KY-1103-001). RESULTS: The child has manifested with seizures, microcephaly, and global developmental delay. WES revealed that he has harbored a novel de novo hemizygous nonsense variant of the SLC9A6 gene, namely c.1014G>A (p.W338*). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic. CONCLUSION The hemizygous c.1014G>A nonsense variant of the SLC9A6 gene probably underlay the pathogenesis in this child. Above discovery has expanded mutational spectrum of the SLC9A6 gene and enabled definite diagnosis of the child.
Humans ; Male ; Infant ; Microcephaly/genetics* ; Spasms, Infantile/genetics* ; Sodium-Hydrogen Exchangers/genetics* ; Exome Sequencing ; Intellectual Disability/genetics* ; Genetic Diseases, X-Linked/genetics* ; Mutation ; Seizures/genetics* ; Ataxia ; Epilepsy ; Ocular Motility Disorders

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

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

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

A 49-year-old male presented with horizontal binocular diplopia without facial pain or skin lesion. Limitation of medial gaze in the left eye was revealed on neurological examination, which is accompanied by peripheral facial nerve palsy ipsilaterally. The diagnosis had been made based on the diffusion restriction lesion of left pontine tegmentum. We may denominate a “seven-and-a-half syndrome” and clinician should maintain a high level of awareness of the various syndromes associated with pontine lesions.
Diagnosis ; Diffusion ; Diplopia ; Facial Nerve ; Facial Pain ; Facial Paralysis ; Humans ; Male ; Middle Aged ; Neurologic Examination ; Ocular Motility Disorders ; Paralysis ; Pontine Tegmentum ; Skin ; Telescopes

PURPOSE: To investigate the types and clinical features of neurological diseases after head trauma. METHODS: From March 2010 to December 2018, a total of 177 patients were enrolled in this study. We retrospectively reviewed the clinical features of neurological ophthalmic diagnoses and frequencies, the types of head injuries, and the prognoses. RESULTS: Cranial nerve palsy was the most common (n = 63, 35.6%), followed by traumatic optic neuropathy (n = 45, 25.4%), followed by optic disc deficiency, ipsilateral visual field defect, Nystagmus, skewing, ocular muscle paralysis between nuclei, and Terson syndrome. Neuro-ophthalmic deficits occurred in relatively strong traumas accompanied by intracranial hemorrhage or skull fracture. However, convergence insufficiency and decompensated phoria occurred in relatively weak trauma such as concussion. The prognoses of the diseases were poor (p < 0.05) for traumatic optic neuropathies and visual field defects. The prognoses of neurological diseases were poor if accompanied by intracranial hemorrhages or skull fractures (p < 0.05). CONCLUSIONS: After head trauma, various neuro-ophthalmic diseases can occur. The prognosis may differ depending on the type of the disease, and the strength of the trauma may affect the prognosis.
Cranial Nerve Diseases ; Craniocerebral Trauma ; Diagnosis ; Head ; Humans ; Intracranial Hemorrhages ; Ocular Motility Disorders ; Optic Nerve Injuries ; Paralysis ; Prognosis ; Retrospective Studies ; Skull Fractures ; Strabismus ; Visual Fields

No abstract available.
Humans ; Ocular Motility Disorders*

Bilateral internuclear ophthalmoplegia (INO) refers to a specific gaze abnormality of bilateral adduction deficits, often accompanied by dissociated abducting nystagmus, caused by medial longitudinal fasciculus lesions usually due to multiple sclerosis or stroke. We report a 63-year-old man with clinical features of Miller-Fisher syndrome (MFS), consisting of ataxia, areflexia, and external ophthalmoplegia which mimicked bilateral-INO without an identifiable central lesion. Although bilateral adduction deficits are usually caused by central lesions, peripheral nervous damage by MFS is needed to be considered.
Ataxia ; Humans ; Middle Aged ; Miller Fisher Syndrome ; Multiple Sclerosis ; Ocular Motility Disorders ; Ophthalmoplegia ; Stroke

PURPOSE: To compare the surgical outcomes between modified bilateral lateral rectus muscle (BLR) recession and augmented unilateral recession-resection (R&R) for the convergence insufficiency intermittent exotropia (IXT). METHODS: 37 patients with convergence insufficiency IXT were divided into two groups: 13 patients (underwent BLR recession) and 24 patients (underwent unilateral R&R). Success was defined as within 10 prism diopters (PD) at distance and near, and within 10 PD of the difference between them at postoperative 12 months. RESULTS: After the patch test, the preoperative distance deviation angle in the BLR group was 29.9 ± 8.4 PD, and the near deviation angle was 42.3 ± 9.7 PD; the difference between them was 12.5 ± 3.2 PD. In the R&R group, the preoperative distance deviation angle was 26.7 ± 5.8 PD, and the near deviation angle was 41.5 ± 7.4 PD; the difference between them was 14.8 ± 4.3 PD (p = 0.235, p = 0.987, and p = 0.123). At the 12-month follow-up in the BLR group, the distance angle was 3.8 ± 5.1 PD, and the near deviation angle was 4.9 ± 6.1 PD; the difference between them was 2.9 ± 5.9 PD. In the R&R group, the postoperative distance deviation angle was 4.7 ± 6.1 PD, and the near deviation angle was 7.9 ± 6.6 PD; the difference between them was 3.65 ± 5.1 PD (p = 0.708, p = 0.162, and p = 0.632, respectively). The surgical success rate did not differ significantly between groups at 12 months postoperatively (76.9%: BLR group and 70.8%: R&R group; p = 0.690). CONCLUSIONS: Modified BLR recession showed a similar surgical success rate to augmented unilateral R&R, and was effective in reducing both distance and near exodeviation, and in decreasing the difference between distance and near deviation in convergence insufficiency IXT.
Exotropia ; Follow-Up Studies ; Humans ; Ocular Motility Disorders ; Patch Tests