Infantile spasms caused by NEXMIF mutation: A case report and literature review.

BACKGROUND: Infantile spasms are rare epileptic syndromes associated with neurodevelopment and genes. The NEXMIF gene, identified as KIDLIA, KIAA2022 or Xpn, is a gene of unknown biological identity located on the q13.2 X chromosome. CASE DESCRIPTION: We presented a 4-month-old infant with a diagnosis of infantile spasms with NEXMIF mutation. Clinical manifestations include psychomotor retardation, loss of consciousness, and seizures. After oral therapy with vigabatrin, sodium valproate, and levetiracetam, the syndrome was alleviated and no recurrence was observed during one month of follow-up. CONCLUSIONS: A loss-of-function mutation in the NEXMIF gene has been reported. There are few reports on this mutation worldwide. This study provides a new idea for the clinical treatment of infantile spasms.

Clinical and laboratory features, disease activity, and outcomes of juvenile systemic lupus erythematosus at diagnosis: a single-center study from southern China.

OBJECTIVES: This retrospective study aimed to analyze the clinical and laboratory features, disease activity, and outcomes of juvenile systemic lupus erythematosus (jSLE) patients from southern China. METHODS: A total of 173 jSLE patients who attended Rheumatology and Immunology Department of Meizhou People's Hospital between January 2010 and December 2019 are included for analysis. RESULTS: The mean age of disease onset was 13.65 ± 2.80 (range, 5-17). The median age at diagnosis was 13.98 ± 2.88 (range, 5-17) years. The female to male ratio was 6.5:1. Renal involvement was the most prevalent clinical feature, occurred in 71.7% of the patients. A total of 27 (15.6%) patients underwent renal biopsy, and the most common type of renal pathology was class IV (44.4%). Our study demonstrated differences in antibody clusters for which the positivity rates of anti-dsDNA antibodies and anti-Sm antibodies were higher than the other jSLE cohorts reported in China and worldwide. Cyclophosphamide combined with corticosteroids was the main treatment medication. The mean SLE Disease Activity Index (SLEDAI) score at diagnosis was 14.3 ± 7.6 (range, 3-38). Five patients died during the initial diagnosis and treatment. Infection was the major cause of death. CONCLUSION: The jSLE patients in this cohort had a higher prevalence of renal involvement, anti-dsDNA antibodies, and anti-Sm antibodies. Multicenter studies are needed to clarify the different clinical features of jSLE in southern China. KEY POINTS: • A single-center study of juvenile systemic lupus erythematosus in clinical and laboratory features. • The jSLE patients had a higher prevalence of renal involvement and antibody disorder.