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Oxcarbazepine is a second‐generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12‐hour‐old neonate who developed neonatal abstinence syndrome (NAS) after intrauterine exposure to oxcarbazepine. The neonate was born via cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone. These symptoms resolved by day 9 of life. Although NAS occurs most often after in utero exposure to opioids, exposure to other drugs during pregnancy may contribute to a small proportion of NAS cases. To our knowledge, this is the second case report of oxcarbazepine‐induced NAS. Pregnant women with epilepsy should weigh the pros and cons of continuing oxcarbazepine during their pregnancy when they are prescribed this drug. For infants with in utero oxcarbazepine exposure, comprehensive assessments and examinations are necessary for screening oxcarbazepine‐induced NAS.

Background: Neuroblastoma with opsoclonus-myoclonus syndrome (OMS-NB) is a rare disease in children. Few studies of long-term outcome of children with OMS-NB were conducted. This study aimed to review the rate of recovery of neurological symptoms and the long-term neurological outcomes of children with OMS-NB. Methods: This study retrospectively assessed 14 children with OMS-NB diagnosed at Peking University First Hospital from May 2011 to November 2019. Demographic data, neurological symptoms, oncological status and treatments were retrospectively reviewed from the records. Neurological sequelae were recorded by clinical and remote follow-up. Results: During the acute stage, myoclonus and ataxia were observed in all children while opsoclonus was observed in 10/14 children. The median durations of neurological symptoms were 15 months (range, 5-48 months). Approximately 93% (13/14) children revealed neurological sequelae. Significant correlations were as follows: motor retardation with female gender (P<0.001) and residual tumors (P<0.05); language impairment with non-adrenal-gland-located tumors (P<0.05). There were no obvious factors that had a statistical relationship with cognitive disorder or behavioral changes. Conclusions: Children with OMS-NB have favorable outcomes in terms of neurological symptoms. Neurological sequelae occurred in almost all children. Children with different features tend to reveal different sequalae. Features of female gender and residual tumors tend to reveal motor retardation while that of non-adrenal-gland-located tumors tend to reveal language impairment.

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2019) Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family, Hematology, 24:1, 583-587, ABSTRACTObjectives: Hereditary spherocytosis (HS) represents a group of congenital diseases characterized by sphere-shaped erythrocytes on peripheral blood smears. The typical clinical manifestations of HS include haemolysis, jaundice, splenomegaly, and gallstones. Ankyrin1, encoded by the ANK1 gene, is the predominant protein in red blood cells. Defects in ankyrin1 lead to a decrease in erythrocyte surface area, a spherical shape of erythrocytes and, in particular, loss of membrane elasticity and mechanical stability. The purpose of this study was to investigate a Chinese family with HS to determine the causative gene mutation and explore the genotype-phenotype correlation. Methods: A 4-year-old boy was diagnosed with HS based on typical clinical features. In addition, his father had a high possibility of HS. Targeted next-generation sequencing (NGS) followed by Sanger sequencing was performed in the proband and his parents. Results: One mutation in the ANK1 gene was recognized. c1801-1G > C in exon 17, which leads to splicing defects, was detected. To confirm the c1801-1G > C variant, samples from the proband and his parents were analysed by Sanger sequencing, and Sanger verification showed that this mutation was inherited from the father. Conclusion: The present study confirmed that a novel mutation in ANK1 may be causative of HS, which plays an important role in expanding the mutational spectrum of ANK1 mutations. This may contribute to accurate genetic counselling. And it is helpful for understanding the correlation of the genotype and phenotype.