Rationale:Parasitic eosinophilic meningitis is rarely observed in infants. The diagnosis of this disease is complicated by its atypical and severe clinical manifestations.Patient concerns:An infant presented to our hospital with high fever and irritability, as well as refusal to walk. Cerebrospinal fluid collected through lumbar puncture showed increased eosinophil count and third-stage Angiostrongylus cantonensis larvae.Diagnoses:Eosinophilic meningitis was suspected.Interventions:We started empiric treatment with levamisole (14 mg bid, 2.5 mg/kg·day) and prednisone (17.5 mg qd, 1.5 mg/kg·day).Outcomes:All of the infant's symptoms were resolved approximately 72 hours after treatment. The patient fully recovered from her illness after completing 4 weeks of levamisole and prednisolone treatment.Lessons:A. cantonensis is the most common cause of parasitic eosinophilic meningitis cases in Southeast Asia. Physicians treating infants who live in areas where A. cantonensis is endemic and who present with irritability, abnormal motor function, and elevated eosinophil count should be aware of the disease to provide timely and rational therapy to the patients.

Background: Duchenne muscular dystrophy (DMD) has showed a wide spectrum of mutations in the dystrophin gene including exon deletions, duplications and small mutations. This retrospective study was to supply information of the DMD mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD genetic counselling and prenatal diagnosis.Methods: In this retrospective study, 305 pregnancies in 303 pregnant women who has a birth history of DMD patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification (MLPA) followed by Sanger sequencing between 2014 and 2018. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results: The detection rate of DMD gene mutation in 303 probands was 97.7% with 7 families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). 204 pregnant women did carrier testing among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found 3 abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis.Conclusions: The distribution and mutation profile of 303 probands and 305 fetuses were demonstrated. Given the large samples provided in this study, the information is essential for genetic counselling and prenatal diagnosis in DMD families in China.