We report a case of an otherwise healthy 23-month-old boy who presented with nystagmus, head shaking, and abnormal head posture suggestive of spasmus nutans. Neuro-ophthalmologic exam revealed bilateral, low-amplitude, high-frequency, horizontal, disconjugate nystagmus that was more prominent in one eye along with head shaking and a head tilt or face turn. The rest of the exam and the systemic physical examination were normal. Magnetic resonance imaging of the brain did not disclose optic pathway glioma, which has been reported to cause spasmus nutans-like disease. Electroretinogram (ERG) was also recommended to rule out occult retinopathies. However, it was not done due to unavailability of the appropriate corneal electrode for his age. Instead, close follow-up was advised to monitor spontaneous improvement or resolution, or until the child comes of age that he can undergo ERG. This case highlights the management approach and rationale of patients with presumed spasmus nutans. Recognition of the triad of spasmus nutans allows for quick diagnosis and more focused and efficient investigation.
pathologic nystagmus ; infantile spasms

Objective: To investigate the spontaneous nystagmus (SN) and the frequency characteristics of affected semicircular canals in patients with vestibular neuritis (VN). Methods: This is a cross-sectional study. A total of 61 patients with VN admitted to the Department of Neurology of Shanxi Bethune Hospital from June 2020 to October 2021, 39 were male and 22 were female, with a mean age of (46±13) years old and male to female ratio of 1.77∶1. According to SN characteristics, 61 patients were divided into non-nystagmus group(nSN), horizontal nystagmus group(hSN) and horizontal-torsional nystagmus group (htSN). Clinical data were collected, and SN, unilateral weakness (UW), directional preponderance (DP), and video head impulse test (vHIT) gain were used as observation indicators. Statistical analysis by SPSS23.0 software. Normal distributed quantitative data (age, semicircular canal gain, SN intensity) were expressed by x¯±s, non-normal distributed quantitative data (disease course, UW, DP) were expressed by M(Q₁,Q₃), qualitative data were expressed by rate and composition ratio, difference analysis by one-way ANOVA, rank sum test, Chi-square test or Fisher's exact probability method, considered by P value<0.05. Results: (1)The disease course of nSN, hSN and htSN was 7.0 (4.0, 12.5), 6.0 (3.5, 11.5), and 3.0 (2.0, 6.5) days respectively, and there were statistical differences (χ2=7.31,P=0.026).(2)The horizontal nystagmus intensity of htSN was (16.8±8.6)°/s, which was significantly higher than that of (9.8±4.7)°/s in hSN (t=3.71, P<0.001). There was no significant difference in the positive rate of UW between the three groups (P=0.690), and there was a significant difference in the positive rate of DP in the three groups (χ2=12.23, P=0.002). The horizontal nystagmor intensity in the htSN was positively correlated with the vertical nystagmus intensity (r=0.59, P=0.001).(3)The gain of the affected horizontal canal of the three groups was statistically different (F=8.28, P=0.001), and the gain of the horizontal canal of hSN and htSN was significantly lower than that of nSN (t=2.74, P=0.008; t=4.05, P<0.001); The gain of the affected anterior canal in the three groups was statistically different (F=5.32, P=0.008). The gain of the anterior canal in both nSN and hSN was significantly higher than that in htSN (t=3.09, P=0.003; t=2.15, P=0.036). The horizontal canal gain of htSN is positively correlated with the anterior canal gain (r=0.74, P<0.001).(4)The affected semicircular canals in the two groups with no-vertical-component nystagmus (nSN and hSN) and the htSN were counted. The composition ratio of the affected semicircular canals in the two groups was different (χ2=8.34, P=0.015). Conclusion: The occurrence of SN in patients with VN is related to many factors, such as the disease course, low and high frequencies, and the severity of the condition in the affected semicircular canal.
Humans ; Male ; Female ; Adult ; Middle Aged ; Vestibular Neuronitis ; Cross-Sectional Studies ; Semicircular Canals ; Nystagmus, Pathologic ; Head Impulse Test ; Disease Progression

Objective:To investigate the classification of head shaking nystagmus（HSN） and its clinical value in vestibular peripheral diseases. Methods:Clinical data of 198 patients with peripheral vestibular disorders presenting with HSN were retrospectively analyzed. Video Nystagmograph（VNG） was applied to detect spontaneous nystagmus（SN）, HSN, and Caloric Test（CT）. The intensity and direction of SN and HSN as well as the unilateral weakness（UW） and direction preponderance（DP） values in caloric test was analyzed in patients. Results:Among the 198 patients with vestibular peripheral disease, there were 105 males and 93 females, with an average age of（49.1±14.4） years （range: 14-87 years）. One hundred and thirty seven patients were diagnosed as Vestibular Neuritis（VN）, 12 as Meniere's Disease（MD）, 41 as sudden deafness（SD） and 8 as Hunt's syndrome accompanied by vertigo. Among them, there were 116 patients in the acute phase, including 68 cases（58.6%） with decreased HSN, 4 cases（3.4%） with increased HSN, 5 cases（4.3%） with biphasic HSN, 38 cases（32.8%） with unchanged HSN, and 1 case（0.9%） with perverted HSN. There were 82 cases in the non-acute phase, 51 cases（62.2%） with decreased HSN, 3 cases（3.6%） with increased HSN, 9 cases（11.0%） with biphasic HSN, and 19 cases（23.2%） with unchanged HSN. In biphasic HSN, the intensity of phase I nystagmus was usually greater than that of phase II, and the difference was statistically significant（P<0.01）. There was no correlation between HSN type and course of disease or DP value. The intensity of HSN was negatively correlated with the course of disease（r=-0.320, P<0.001） and positively correlated with DP value（r=0.364, P<0.001）, respectively. The intensity of unchanged nystagmus and spontaneous nystagmus were（8.0±5.7） °/s and（8.5±6.4）°/s, respectively. There was no statistically significant difference in the intensity of nystagmus before and after shaking the head. Conclusion:HSN can be classified into five types and could be regarded as a potential SN within a specific frequency range （mid-frequency）. Similarly, SN could also be considered as a common sign of unilateral vestibular impairment at different frequencies. HSN intensity can reflect the dynamic process of vestibular compensation, and is valuable for assessing the frequency of damage in peripheral vestibular diseases and monitoring the progress of vestibular rehabilitation.
Male ; Female ; Humans ; Adult ; Middle Aged ; Vestibular Function Tests ; Retrospective Studies ; Nystagmus, Pathologic/diagnosis* ; Vertigo/diagnosis* ; Electronystagmography ; Vestibular Diseases/diagnosis*

Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of the CACNA1A gene. EA2 has been rarely reported in the Chinese population. Here we present an EA2 family admitted to Xiangya Hospital in October 2018. The proband was a 22-year-old male who complained of recurrent spells of vertigo, slurred speech, and incoordination for 4 years. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy. He had neuropsychological development disorder in childhood, and cognitive assessment in adulthood showed cognitive impairment. The proband's mother and grandmother had a similar history. Peripheral blood samples from the proband and family members were collected, and genomic DNA was isolated. Whole exome sequencing of the proband detected a heterozygous frameshift mutation c.2042_2043del (p.Q681Rfs*100) of CACNA1A gene. This mutation was verified in the proband and 2 family members using Sanger sequencing. One family member carrying this mutation was free of symptoms and signs, suggesting an incomplete penetrance of the mutation. We reported a variant c.2042_2043del of CACNA1A gene as the pathogenic mutation in a Chinese EA2 family for the first time. This case enriched the clinical spectrum of CACNA1A related EA2, and contributed to the understanding of clinical and genetic characteristics of EA2 to reduce misdiagnosis.
Adult ; Ataxia ; Calcium Channels/genetics* ; Humans ; Male ; Mutation ; Nystagmus, Pathologic ; Pedigree ; Vertigo ; Young Adult

Objective: The aim of the study is to analyze the effects of vestibular spontaneous nystagmus(SN) on the smooth pursuit function of visual ocularmotor system. Methods: A total of 46 patients with acute unilateral peripheral vestibular syndrome with SN (26 cases of vestibular neuritis, 6 cases of Ramsay Hunt Syndrome (RHS) with vertigo, 14 cases of sudden deafness with vertigo) were included in this work. In the study group, the results of SPT and SN test with videonystagmography(VNG) were also reviewed. Taking SPT parameters, the influence of SN intensity on SPT gain, asymmetry and waveform and their correlation were analyzed.SPSS19.0 software was used for statistical analysis. Results: Among the 46 patients, there were 36 cases of SN pointing to the healthy side(SN intensity range of 2.68°/s-32.53°/s), and 10 cases of SN pointing to the affected side (SN intensity range of 2.66°/s-16.54°/s). SN intensity was divided into 3 groups, including light(0.50°/s-5.00°/s), medium(5.01°/s-10.00°/s) and strong(>10.01°/s), accounting for 14 cases(30.4%), 18 cases(39.1%) and 14 cases(30.4%), respectively. The differences of the gain of SPT to the fast phase and slow phase direction in the overall groups and light, medium and strong groups of SN intensity respectively were statistically significant(t_total=13.338, t_light=6.184, t_medium=8.436, t_strong=8.477, all of P<0.001). The difference of SPT gain in SN fast phase direction between groups with different SN intensity was statistically significant(F=9.639, P<0.001),there was no statistically significant difference in SPT gain between the groups on the SN slow phase direction(F=1.137, P=0.330).The SN intensity significantly negatively correlated with the SPT gain of the fast phase direction of SN (r=-0.433, P=0.003), that was, the SPT gain on the fast phase direction of SN decreased with the increase of SN intensity. There was no significant correlation between SN intensity and the gain of SPT on the slow phase direction of SN (r=-0.061, P=0.687). SPT waveform analysis showed that type I, type II and type III accounted for 8 cases(17.4%), 21 cases(45.6%) and 17 cases(37.0%), respectively. The corresponding mean values of SN intensity were (3.71±0.69)°/s, (7.44±1.88)°/s, (20.04±5.53)°/s, respectively, without type IV wave. The intensity of SN was positively correlated with the asymmetric value of the gain of SPT left and right(r=0.450,P=0.002). That was, with the increase of SN strength, the asymmetric value also increased, and the worse the asymmetry of the gain of SPT left and right pursuit was, the worse the SPT waveform was. Conclusion: SPT gain, asymmetry and SPT waveforms are all affected by SN, and the greater the intensity of SN, the greater the influence on the three. When SN is strong, type III waves may occur, suggesting that acute peripheral vestibular syndrome can also affect the visual ocularmotor systems.
Humans ; Nystagmus, Pathologic ; Pursuit, Smooth ; Vertigo ; Vestibular Diseases ; Vestibular Function Tests ; Vestibular Neuronitis

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating autoimmune disease of central nervous system characterized by relapsing attacks that target the optic nerves and spinal cord, as well as aquaporin-4 (AQP4) enriched periventricular brain regions. The area postrema (AP), located in the dorsal medulla, is the chemosensitive vomiting center and has high AQP-4 expression. The AP syndrome with unexplained hiccups, nausea, and vomiting is one of the core clinical characteristics in the NMOSD and maybe the first presenting symptom. We experienced a 25-year-old woman presented with intractable vomiting, dizziness and oscillopsia. Upbeat nystagmus detected on the bedside examination led to comprehensive neurological workups including magnetic resonance imaging, and she was diagnosed as the AP syndrome. Ten months later, she experienced a recurrence as a longitudinally extensive transverse myelitis and the diagnosis was finally compatible with NMOSD without AQP4-IgG. NMOSD, especially the AP syndrome, should be considered in any dizzy patient with intractable vomiting, and detailed neuro-otologic and neuro-ophthalmologic examinations are warranted for the correct diagnosis.
Adult ; Area Postrema ; Autoimmune Diseases ; Brain ; Central Nervous System ; Diagnosis ; Dizziness ; Female ; Hiccup ; Humans ; Magnetic Resonance Imaging ; Myelitis, Transverse ; Nausea ; Neuromyelitis Optica ; Nystagmus, Pathologic ; Optic Nerve ; Recurrence ; Spinal Cord ; Vomiting

OBJECTIVES: The purpose of this study is to investigate characteristics of nystagmus during attacks of vestibular migraine (VM), and to find a distinct clinical feature compared to other migraine and peripheral vestibular disorders. METHODS: This study is a retrospective chart review of 82 patients satisfied with VM criteria, which is formulated by the new Bárány Society. Spontaneous and positional nystagmus provoked by various head positions were examined with video-nystagmography in all patients. Bithermal caloric test and cervical vestibular evoked myogenic potential test (cVEMP) were also performed. The direction and peak slow-phase velocity (SPV) of nystagmus, unilateral caloric weakness and interaural difference of cVEMP were analyzed. Control groups were lesion side in acute VN for nystagmus results and healthy side in the patients with benign paroxysmal positional vertigo of posterior semicircular canal for caloric and cVEMP results. Chi-square test and Mann-Whitney U-test were used for statistical analysis. RESULTS: During the acute attack, nystagmus was seen in 71.9% (59 of 82) of patients. Horizontal nystagmus was the predominant type. Peak SPV in VM patients was much slower than in the control group (2.37±1.73 °/sec vs. 17.05±12.69 °/sec, p<0.0001). There was no significant difference on the result of both caloric and cVEMP test, compared to those of control groups. CONCLUSION: Nystagmus with horizontal directions and low SPV was dominant form in the attack of VM. Close observation of nystagmus can be helpful to make a correct diagnosis and to understand the pathomechanism of vertigo in VM.
Benign Paroxysmal Positional Vertigo ; Caloric Tests ; Diagnosis ; Head ; Humans ; Migraine Disorders ; Nystagmus, Pathologic ; Nystagmus, Physiologic ; Retrospective Studies ; Semicircular Canals ; Vertigo

A 57-year-old woman presented with sudden onset of whirling vertigo associated with nausea and vomiting. The neurological examination showed left-beating horizontal nystagmus on the lying-down test and right-beating horizontal nystagmus on the head bending test. Geotropic direction-changing horizontal nystagmus was demonstrated on both sides during the supine roll test. Benign paroxysmal positional vertigo (BPPV) was the most common vestibular disorder in patients after head trauma. The authors experienced a case of right horizontal canal BPPV occurred after a yoga practice, thereby we report the case with a review of the related literatures.
Benign Paroxysmal Positional Vertigo ; Craniocerebral Trauma ; Female ; Head ; Humans ; Middle Aged ; Nausea ; Neurologic Examination ; Nystagmus, Pathologic ; Vertigo ; Vomiting ; Yoga

Genetic Diseases, X-Linked ; Humans ; Nystagmus, Congenital

To investigate the changes of vedionystamography(VNG)in patients with posterior circulation ischemia vertigo(PCIV).Fifty patients who complained of vertigo and imbalance with PCI were selected as experimental group for testing of visual nystamography(VNG).Thirty normal subjects were chosen as control group.The result was analyzed.The results of VNG in PCIV group and the control group were compared.The abnormal ratio were as follows:(4%,0;>0.05)for Spontaneous nystagmus,(68%,10%;<0.01)for Saccade Test,(42.0%,6.7%;<0.01)for Tracking Test,(44%,0;<0.01)for Optokinetic Test,(78%,10%;<0.01)for Positional Test,respectively.The intensity of positional nystagmus in those patients was(4.12±3.46)°/s,which was much higher than that of the control group(<0.01).One or more abnormal findings for visual-oculomotor system examination were shown in 37 patients(74%).Both vestibular central and peripheral system can be involved in PCIV.VNG test has clinical significance in differential diagnosis and lesion location.The abnormal ratio of visual nystamography in PCIV group reaches 92%(46/50).These results suggest that VNG be used as an important accessory diagnostic tool for patients with PCIV.
Humans ; Nystagmus, Pathologic ; Nystagmus, Physiologic ; Vertigo ; diagnosis ; Vestibular Function Tests ; Vestibule, Labyrinth