ObjectiveTo observe the multimodal imaging characteristics of combined hamatoma of the retina and retinal pigment epithelium (CHRRPE).MethodsA retrospective case study. From January 2013 to December 2017, 6 CHRRPE patients (6 eyes) diagnosed in Department of Ophthalmology, Sun Yat-sen Memorial Hospital were included in the study. There were 4 males and 2 females, with the mean age of 12.0±8.10 years. There were 5 eyes with BCVA ≤0.1, 1 eye with BCVA＞1.0. Corneal fluoroscopy showed 1 eye with an external oblique 15°, and the remaining eye had no abnormalities in the anterior segment. All eyes underwent fundus color photography, FAF, FFA, ICGA, OCT and color Doppler flow imaging (CDFI). The multimodal imaging characteristics were observed.ResultsAll the affected eyes CHRRPE were located in the posterior pole and showed mild elevation. Most of the retinal neuroepithelial layers had different degrees of hyperplasia, vascular tortuosity and retinal folds. Of the 6 eyes, 4 eyes (66.7%) involving the macula and optic disc, only 2 eyes (33.3%) involving the macula. OCT showed that the structure of the neuroepithelial layer was unclear and the signal intensity was uneven; it involved 2 eyes of the whole retina (33.3%) and only 4 eyes of the neuroepithelial layer (66.7%). FFA and ICGA showed that the choroidal background fluorescence of the early lesions was weakened, and the lesions showed slightly weak fluorescence; the late telangiectasia fluorescein was obviously leaked, and the lesions were stained with fluorescence. FAF mainly appears as weak autofluorescence with a small amount of strong autofluorescence. CDFI has no characteristic performance.ConclusionsCHRRPE is mainly a membrane-like hyperplasia without angiogenesis, involving the retinal neuroepithelial layer, and may also involve the entire retina. OCT is dominated by strong reflection; AF, FFA and ICGA are mainly weak fluorescence.
ObjectiveTo explore the clinical features and EEG features of gelastic seizures, and analyze its value of lateral localization of epileptogenic area. MethodsAll patients with gelastic seizures admitted to the Sanbo Brain Hospital of Capital Medical University between January 2014 and December 2023 were reviewed and analyzed for history, symptomatology, imaging, electroencephalographic features and surgical protocols in patients who met the inclusion criteria and were followed up for at least 1 year, and surgical efficacy was assessed by using the Engel grading. ResultsA total of 51 patients with gelastic seizures were included, there were 32 (62.75%) males and 19 (37.25%) females, 21 (41.18%) with hypothalamic hamartomas (HH) and 30 (58.82%) with non-hypothalamic hamartomas. The age of onset was earlier in the HH group than in the non-HH group, with a median age of onset of 24.00 (0.00 ~ 96.00) and 78.00 (1.00 ~ 396.00) months (P<0.001). There are three types of laughter according to their characteristics: smiling or pleasant expressions, laughing out loud, crying or bitter laughter, with smiling or pleasant expressions being the most common (49.02%). Simple laughter is rare in all patients and is often accompanied by other manifestations such as autonomic symptoms, automatic movements, complex movements, and tonic seizures. Most of the HH group started with laughter whereas in the non-HH group laughter appeared mostly in the mid to late stages (P=0.007). Most of the HH group (57.14%) had preserved consciousness whereas most of the non-HH group (83.33%) had loss of consciousness (P=0.003). The interictal discharges in the HH group were mostly diffuse or multiregional, whereas those in the non-HH group were mostly regional (P=0.035). The onset of EEG during the seizure period in the HH group was mostly diffuse, whereas those in the non-HH group were mostly regional, mainly in the frontal and temporal regions, but there was no significant difference between the two groups (P=0.148). The non-HH group was mostly seen in those with definite lesions, and the most common type of lesion was FCD (focal cortical dysplasia, FCD). All patients enrolled in the group underwent surgical treatment, and stereoelectroencephalogram (SEEG) electrode implantation was performed in 13 cases in the HH group and in 17 cases in the non-HH group. 61.90% of the patients in the HH group had an Engel grade I, and 73.33% of the patients in the non-HH group had an Engel grade I. ConclusionsGelastic seizures has a complex neural network, with common causes other than hypothalamic hamartomas, and is most commonly seen in frontal or temporal lobe epilepsy, as well as in the insula or parietal lobe, with the most common type of lesion being FCD. The symptomatology, stage of onset, and electroencephalographic features of gelastic seizures can help in the differential diagnosis, and SEEG can help define the origin of the seizure and its diffusion pathway. The overall prognosis of surgical treatment was better in both the hypothalamic hamartomas and non-hypothalamic hamartomas groups.