Objective: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. Methods: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. Results: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. Conclusion A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

Objective To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle(ventriculomegaly), and follow up the nervous system development status after birth. Methods Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done:(1) unilateral or bilateral lateral ventricle expasion:one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: ①Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126).②Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). ③Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results (1) The MRI results after birth:21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width<10.0 mm after birth) , the other 2 cases were stable (the ventricular width measured first time after birth was ≥10.0 mm, but the difference was within 2.0 mm from the MRI before birth). In group B, 4 cases had MRI, 1 was normal, 1 was stable, and 2 cases were getting better (the ventricular width measured first time after birth was ≥10.0 mm, but the width decreased more than 2.0 mm from the MRI before birth). In group C, 6 cases had MRI. 3 cases were getting better and 3 cases were stable. (2) Overall GDS results:expansion group after the birth of the 3rd, 6th, 12th, 18th month GDS evaluation results compared with control group, respectively, the differences were not statistically significant (all P>0.05). (3) The GDS results among the subgroups:in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P<0.05); while there were no statistically significant differences between the 2 goups at the 12th and 18th month (P>0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P<0.05). (4) GDS results at different times after birth in the expansion group:there was no statistically significant difference between the results at the 3rd and 6th month (P>0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P<0.05). GDS result of 6th months after birth compared with 12th and 18th months, respectively, there were no statistically significant differences (P>0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion:at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores);8 (8.2%, 8/98) had borderline results (75-85 scores);4 (4.1%, 4/98) had delayed results (<75 scores). Among the 28 bilateral cases, 23 (82.1%, 23/28) had normal GDS results;3 (10.7%, 3/28) had borderline results; 2 (7.1%, 2/28) had delayed results. There was no statistically significant difference (P>0.05). Conclusions Among the simple expansion of lateral ventricle, those whose ventricular width are≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.

Objective To compare the clinical efficacy and imaging results of uniportal interlaminar endoscopy(UIE)and unilateral biportal endoscopy(UBE)for the treatment of lumbar disc herniation.Methods The clinical information for 50 patients diagnosed with lumbar disc herniation was collected,and treated by UIE endoscopic surgery and UBE endoscopic surgery in the The First People's Hospital of Hefei city from March 2021 to October 2022 were retrospectively analyzed.The patients were divided into two groups,UIE group and the UBE group.Perioperative indexes including incision length,operation time,intraoperative blood loss,and surgical complications,clinical efficacy indexes including VAS scores of low back pain and leg pain before surgery,3 days after surgery,3 months after surgery,6 months after surgery,and 12 months after surgery,ODI scores of dysfunc-tion index,and imaging results including spinal canal area,vertebral space height,before surgery and 1 year after surgery were recorded and compared between the two groups.Results Both groups completed the procedure and were followed up for 12～18 months,with an average of 15 months.1 case was dural injury,no nerve root injury,and no nerve root symptoms during the follow-up.The symptoms of lumbar and leg pain were all relieved in both groups after the procedure.The UBE groups hawed larger surgical incisions,more intraoperative blood loss,and shorter operative time compared to the UIE group(P＜0.05,respectively).Both groups had significant develop-ments in the VAS scores,ODI scores of back,and leg pain at 3 days,3 months,6 months,and 12 months after the operation(all P＜0.05).The UIE group showed significant developments in the VAS scores and ODI scores of back and leg pain at 3 days and 3 months after the operation,as compared to the UBE group(P＜0.05).The imaging analysis did not showed significant changes in the height of intervertebral space and the angle of lumbar lordosis,but a significantly larger increase in the dural sac area in both groups one year after the procedure,and the UBE group had even a larger increase than the UIE group(P＜0.05).Conclusion Both UIE and UBE have good clinical efficacy and imaging results in the treatment of lumbar disc herniation via interlaminal approach.However,the UIE group is superior to the UBE group in terms of the operation time,intraoperative blood loss,postoperative VAS score of low back pain as well as the decompression effectiveness.

A 41-year-old male was presented with rapidly progression memory impairment for 2 months and episodic limb shaking for 2 weeks as the main manifestations.Physical examination showed verbal disadvantage with decreased memory,attention,comprehension,and orientation.Serum vitamin B12 levels decreased,serum anti gastric parietal cell antibodies and anti-intrinsic factor antibodies were positive.Blood analysis showed macrocytic anemia,neuropsychological scale showed functional impairment in multiple cognitive domains,electrophysiological examination showed peripheral nerve damage,cerebrospinal fluid and imaging examination showed no abnormalities.The patient was diagnosed as having vitamin B12 deficiency dementia,vitamin B12 deficiency related involuntary movement and pernicious anemia.Supplementing with B vitamins and folic acid significantly improved cognitive impairment and eliminated symptoms of limb shaking.The purpose of this case report is to enhance the understanding of clinical doctors about dementia and involunting movement caused by vitamin B12 deficiency,in order to diagnose and treat it early.