ObjectiveTo explore the reasonable path of caloric test in videonystagmography examination. MethodsPatients who received the videonystagmography examination in Xi'an Central Hospital were retrospectively analyzed. Using caloric test as standard, sensitivity, false negative rate, specificity and false positive rate of single temperature test were calculated and compared. Data was analyzed using SPSS 13.0 software. ResultsA total of 263 patients were included. In all subjects, the sensitivity of single hot test was 81.7%, which was higher than single cold one. The false negative rate was 18.3%, which was lower than single cold one. There were significant differences in the rate between both methods (P < 0.05). In patients accompanied with spontaneous nystagmus, the sensitivity of single hot test was 90.8%, which was the highest; the false negative rate was 9.2%, which was the lowest. There were significant differences in the rate between both methods (P < 0.05). ConclusionCold or warm water (gas) perfusion could be conducted in the reasonable path of caloric test as follows: heat stimulation of the affected side, heat stimulation of the normal side, cold stimulation of the affected side, and cold stimulation of the normal side. If the patients are unable to tolerate caloric test, the results of single hot test could be used as reference.
ObjectiveTo evaluate the magnetic resonance imaging (MRI) manifestations, pathological and clinical characteristics, and treatment outcomes of multiple sclerosis (MS) patients with new lesion in medulla oblongata (MO).MethodsPubMed, EBSCO, and Springer databases between January 1st, 2000 and May 1st, 2018 were searched with the combined keywords of " multiple sclerosis” and " medulla oblongata”. Furthermore, the MS patients’ MRI manifestations, pathological and clinical characteristics, and treatment outcomes were summarized.ResultsA total of 18 papers were involved, in which 26 patients were included. The lesions in MO were mainly showed by wedge-shape (9/20), and round or oval-shape (9/20) in axial head MRI. Inflammatory cells infiltration and acute demyelination in the new lesions of MO had been displayed by autopsy reports of two MS patients. The new lesions in MO mainly referred to various types of nystagmus (9/26), left ventricular apical ballooning syndrome (LVABS) (8/26), neurogenic pulmonary edema (NPE) (6/26), and acute heart failure (6/26). Nucleus tracts solitaries (NTS), along with dorsal motor nucleus of the vagus nerve and medial reticular formation (MRF), was related to LVABS and NPE. Intercalatus nucleus, Roller nucleus and/or autonomic nerve structure were related to various types of nystagmus.ConclusionsIn axial head MRI, the new MS lesions in MO were mainly wedge-shape and round or oval-shape. Beyond that, the new MS lesions in MO could involve NTS, dorsal motor nucleus of the vagus nerve, MRF, intercalatus nucleus, Roller nucleus and/or autonomic nerve structure, resulting in special clinical features, such as, nystagmus, LVABS, NPE, and acute heart failure. Corticosteroid is still the main treatment to relieve the clinical manifestations caused by new MS lesions in MO.
ObjectiveTo observe the clinical features of eyes in children with methylmalonic acidemia (MMA). MethodsA retrospective clinical case study. From June 2019 to June 2022, 13 children with MMA visited on the Department of Ophthalmology of Henan Children's Hospital were included in the study. The anterior segment and fundus were examined under surface or general anesthesia. Best corrected visual acuity (BCVA) and refraction were performed in 9 cases; fluorescein fundus angiography (FFA) was performed in 3 cases; flash electroretinogram (FERG) was performed in 6 cases; flash visual evoked potential (FVEP) was detected in 6 cases; optical coherence tomography (OCT) was performed in 3 cases. ResultsAmong the 13 pediatric patients with methylmalonic acidemia, 6 cases were male and 7 cases were female. The average age at first visit was 45 months. All cases suffered from hyperhomocysteinemia; 9 cases were with epilepsy; 2 cases were with infantile spasms; 11 cases were with stunting, 13 cases were with repeated pulmonary infection during growth period; 4 cases were with hydrocephalus; 1 cases was with hypertension and renal insufficiency. Genetic dectection results of 8 cases were recorded, MMACHC:c.609G>A:p.W203* mutation site was found in all cases. One case was accompanied by corneal ulcer. There were 10 cases with nystagmus, 4 cases with macular degeneration, 3 cases with hyperopic refractive error and esotropia. Nine cases underwent BCVA examination, BCVA was light perception-0.6. In OCT, 2 cases of 3 cases showed retinal thinning and photoreceptor cell layer atrophy in the macular area. In FFA, 2 cases of 3 cases showed circular transparent fluorescence in the macular area. Five cases of 6 cases who with FVEP had different degrees of P100 peak time delay and decreased amplitude, and 4 cases of 6 cases with FERG had decrease of a and b wave in light and dark adaptation. ConclusionsThe clinical phenotypes of eyes in children with MMA are various and the severity was different; most of them are accompanied by nystagmus, and the fundus lesions are common in the characteristic bovine eye like macular region. Those with macular disease have severe visual impairment.
Objective To observe the clinical phenotype of patients with CACNA1F gene variant. MethodsFrom January 1, 2022 to October 1, 2023, patients with CACNA1F gene mutation-related eye diseases diagnosed by clinical examination and genetic testing in Changsha Aier Eye Hospital were included in the study. All patients underwent best-corrected visual acuity (BCVA), medical optometry, fundus color photography, optical coherence tomography, full-field electroretinography (ERG), nystagmus examination, and genetic whole-exon sequencing. BCVA was performed using log visual acuity charts and converted to (logMAR). The nystagmus examination was performed using a helmet-mounted multifunctional video eye movement recording system. ResultsThere were 36 patients included in the study. All were male, aged was (6.69±5.26) years. There were 26 cases of myopia (72.22%, 26/36), and the spherical equivalent was (-3.01±4.84) D. There were 34 different genetic variants including 7 cases of pathogenic variants, 20 cases of suspected pathogenic variants and 9 cases of unknown pathogenic variants, respectively. logMAR BCVA was 0.67±0.27; 26 patients had optic nerve atrophy (72.22%, 26/36); 6 had optical nerve hypoplasia (16.67%, 6/36). Fundus pigment dysplasia with mild iris transillumination was found in 4 cases (11.11%, 4/36). There were 5 cases of foveal dysplasia (Thomas grade) 1 (13.89%, 5/36). In full-field ERG examination, the B-wave reduction of the maximum mixed reaction of dark adaptation showed a negative waveform, and the amplitude of the shock potential was seriously reduced. The main phenotypes were residual type (residual dark adaptation 0.01 reaction wave and bright adaptation 3.0 reaction wave, and the response decreased at 30 Hz to a double-peak wide wave), dominant type of bright adaptation decreased (all light adaptation extinguished, all dark adaptation extinguished), and total extinction type (all light adaptation extinguished). Among them, 10 cases presented with residual ERG (27.78%, 10/36), 8 cases with photopic reduced ERG (22.22%, 8/36) and 18 with extinguished ERG (50.00%, 18/36). Low amplitude and high frequency pendulum (PLAHF) nystagmus waverforms were found in 32 cases (88.89%, 32/36), head oscillation in 27 cases (75.00%, 27/36) and chin up abnormal head posture in 26 cases (72.22%, 26/36), respectively. ConclusionsCACNA1F Gene variant eye diseases had diverse clinical phenotype. Clinical phenotype of PLAHF nystagmus is closely related with CACNA1F gene variant eye disease.