Research on Retinal Diseases in Children
Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China
Peng Chunxia, Yu Jifeng, Ren Xiaotun, Liu Lili, Cui Yanhui, Shi Wei, Li Li
Published 2021-05-25
Cite as Chin J Ocul Fundus Dis, 2021, 37(5): 352-358. DOI: 10.3760/cma.j.cn511434-20210331-00164
Abstract
ObjectiveTo observe and analyze the clinical characteristics and correlation between the eye and nervous system in children with infantile gangliosideosis.
MethodsFrom November 2018 to January 2021, 3 children with infantile ganglion lipidosis diagnosed by genetic examination in the Department of Ophthalmology and Neurology, Beijing Children's Hospital of Capital Medical University, and through China National Knowledge Infrastructure and Wanfang database and The National Library of Medicine of the United States (PubMed) were searched, and 53 cases of Chinese infantile gangliosideosis diagnosed by gene, enzyme activity or pathological examination were selected and a total of 56 cases were included in the study. The searching time was from the establishment of the database to February 2021, and the search keywords are"gangliosideosis", "cherry-spot" macula and "Chinese". The demographic characteristics of 56 cases of children and other system manifestations were analyzed such as eyes, nervous system, skin, bones. According to the presence or absence of cherry-spot (CS) on the fundus examination, the children were divided into a fundus CS group (group A) and a fundus without CS group (group B), with 20 and 27 cases, respectively. The age of onset, gender, different types and neurological manifestations of the two groups of children were compared and analyzed. The non-parametric rank sum test was used for age comparison between groups; theχ2 test or Fisher's exact test were used for the comparison of gender, disease type and incidence between groups.
ResultsAmong the 56 children, 27 were males and 29 were females; the median age of onset was 7.0 months. There were 33 and 23 cases of GM1 and GM2, respectively. Among 44 children with visual function examination records, 41 cases (93.2%, 41/44) were unable to follow the visual object. Of 47 children who underwent ocular fundus examination, 20 cases (42.6%, 20/47) had CS on the fundus. The main manifestations of the nervous system are neuromotor development regression or retardation (100%, 56/56), convulsions (58.1%, 25/43), and "startle" phenomena (89.7%, 26/29). Among 42 patients with brain magnetic resonance imaging examination records, 39 cases (92.9%) were abnormal. The incidence of "startle" and seizures in group A was higher than that in group B, and the difference was statistically significant (χ2=5.815, 6.182, P=0.021, 0.013).
ConclusiosChinese infantile gangliosideosis is more common in GM1 type. Ocular visual impairment is the visual object as the main manifestation, the incidence of fundus CS is 42.6%, and the symptoms of neurological damage in children with CS are more severe.
Key words:
Tay-Sachs disease; Metabolic diseases; Heredodegenerative disorders, nervous system
Contributor Information
Peng Chunxia
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Yu Jifeng
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Ren Xiaotun
Department of Neurology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Liu Lili
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Cui Yanhui
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Shi Wei
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Li Li
Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
