Objective To analyze the clinical features,risk factors,imaging features and prognoses of cerebral infarction menifested as isolated acute vestibular syndrome (AVS) to improve the diagnoses and treatments of the disease.Methods Clinical data of 15 cerebral infarction patients menifested as isolated AVS,admitted to our hospital from October 2015 to April 2016,were summarized retrospectively.The clinical features,risk factors,imaging features and prognoses of these patients were analyzed.Results (1) Clinical characteristics:the average age of cerebral infarction patients menifested as isolated AVS was 62.1 ±13.5 years old,and the median attack time was 24 (4-168) h;the main clinical manifestations were vertigo,including nausea (n=1 1),vomiting (n=10),nystagmus (n=10),and unstable gait (n=14).(2) Risk factors:14 patients had multiple risk factors of stroke (＞4),and they were age,hypertension,hypedipidemia,diabetes,smoking,carotid stenosis,history of stroke,white matter degeneration,coronary heart disease,and atrial fibrillation.(3) Imaging features:14 patients were posterior circulation infarction,and the lesions were located in the cerebellar hemisphere (n=l 1),cauda cerebelli (n=4),pons (n=3),brachium pontis (n=1),brachium inferius cerebelli (n=1);inferior colliculus (n=1),and multiple lesions occurred in 6 patients;one anterior circulation infarction was located in the insula;most lesions were smaller lacunar infarcts,but the lower part of cerebellar hemisphere was mostly larger infarct.(4) Prognoses:the prognosis of patients is good after regular treatment,9 had complete symptom relief,and 6 got improvement.Conclusions When patients presented with isolated AVS and many risk factors exist in clinic,the possibility of cerebral infarction should be taken into account.Such patients should be subjected to relevant examinations in a timely manner and early diagnosis,so that they can get regular treatment as soon as possible and prognoses can be improved.

Objective:To investigate the prevalence, gene variation and prognosis of very long chain acyl CoA dehydrogenase deficiency (VLCADD) in newborns in Henan Province.Methods:From January 2013 to December 2019, 867 103 newborns were investigated for VLCADD by tandem mass spectrometry.Children who diagnosed as VLCADD and their families were subjected to next-generation sequencing and Sanger sequencing.Clinical data, biochemical changes and gene variation characteristics of the confirmed cases of VLCADD were analyzed.Dietary guidance was given, and their growth and development were followed up.Results:Six neonates were diagnosed as VLCADD, and the prevalence of VLCADD in the Henan Province was 1/144 517.A total of 11 mutations in the ACADVL gene were found, including 5 new variants c. 692-2_692-1delAG, c.753-23_753-22del, c.960delG, c.1361A>G, and c. 1955C>T.The newborns were given a high-carbohydrate, low-fat diet, and followed up for 8-56 months.Except for two deaths, all patients had a good outcome. Conclusions:The prevalence of neonatal VLCADD in Henan Province is 1/144 517.This results has enriched the ACADVL gene mutation spectrum and provided an important basis for the screening and diagnosis of VLCADD.

Objective:To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China.Methods:A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing. The clinical, biochemical and genetic characteristics of Citrin deficiency patients were integrated to guide the diet treatment and follow up the growth and development. Paired- t test was used to compare the amino acid levels in the peripheral blood samples before and after the treatment. Results:Nine cases of Citrin deficiency were diagnosed among the 986 565 neonates. Specific elevation of citrulline was observed in all of the 9 cases. Six variants were detected by genetic sequencing, among which c. 852_855delTATG, c. 615+ 5G>A, c. 550C>T and IVS16ins3kb were known pathogenic variants, whilst c. 1111_1112delAT and c. 837T>A were unreported previously. The detection rate for c. 852_855delTATG was the highest (61.6%, 11/18), followed by IVS16ins3kb (16.7%, 3/18). The clinical symptoms of all patients were relieved after the treatment, and the blood amino acid profile and biochemical parameters were significantly improved by gradually falling within the normal range. By June 2022, all patients had shown a good prognosis.Conclusion:The prevalence of Citrin deficiency among neonates from Henan Province by tandem mass spectrometry is 1/109 618, and the carrier rate for the pathogenic variants of the SLC25A13 gene was 1/166. The c. 852_855delTATG may be a hot spot variant among the patients. Discovery of the novel variants has enriched the mutational spectrum of the SLC25A13 gene. Above results have provided a basis for the early diagnosis, treatment, prognosis and genetic counseling for the affected families.