De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+)

SCN1A is one of the most relevant epilepsy genes. In general, de novo severe mutations, such as truncating mutations, lead to a classic form of Dravet syndrome (DS), while missense mutations are associated with both DS and milder phenotypes within the GEFS+ spectrum, however, these phenotype‐genotype correlations are not entirely consistent. Case report. We report an 18‐year‐old woman with a history of recurrent febrile generalized tonic‐clonic seizures (GTCS) starting at age four months and afebrile asymmetric GTCS and episodes of arrest, suggestive of focal impaired awareness seizures, starting at nine months. Her psychomotor development was normal. Sequencing of SCN1A revealed a heterozygous de novo truncating mutation (c.5734C>T, p.Arg1912X) in exon 26. Conclusion. Truncating mutations in SCN1A may be associated with milder phenotypes within the GEFS+ spectrum. Accordingly, SCN1A gene testing should be performed as part of the assessment for sporadic patients with mild phenotypes that fit within the GEFS+ spectrum, since the finding of a mutation has diagnostic, therapeutic and genetic counselling implications.     

Seizure as the Presenting Symptom for Atypical Hemolytic Uremic Syndrome

Background

Atypical hemolytic uremic syndrome (aHUS) is a complement-mediated disease manifesting in thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. It has a higher incidence of extrarenal manifestations, including central nervous system findings like seizure or stroke, pancreatitis, and cardiac manifestations.

上呼吸道感染致高热惊厥患儿的综合护理分析

目的探讨综合护理在小儿上呼吸道感染致高热惊厥中的应用效果。方法选取2017年5月—2019年6月在本院急诊科就诊的上呼吸道感染致高热惊厥患儿60例,其中2017年5月—2018年5月降温急救护理实施前收治的30例患儿为对照组,2018年6月—2019年6月降温急救护理实施后收治的30例患儿为观察组。对照组给予常规急救护理,观察组采用综合护理。对比两组康复指标、护理满意度及惊厥复发情况。结果观察组干预后两组体温恢复时间(27.33±5.32)h、惊厥控制时间(4.37±1.07)d、住院时间(5.98±1.57)d,短于对照组,差异有统计学意义(P<0.05);观察组总护理满意度(93.33%)比对照组(70.00%)更高,差异有统计学意义(P<0.05);观察组复发率(3.33%)比对照组(26.67%)更低,差异有统计学意义(P<0.05)。结论降温综合护理可缩短呼吸道感染致高热惊厥患儿症状恢复时间,提升护理满意度,降低惊厥复发风险,值得应用。     

Seizures Related to Two-child Policy: A Case Report

From 1979 to 2012, the Chinese government implemented the one-child policy to control population growth. In 2013, families in which either parent was the only one child were allowed to apply for a second child.In 2016, China’s universal two-child policy was finally imposed. As such, many children who had always been the center of their family’s universe due to the unique family structure stemming from the one-child policy era became elder siblings during their adolescence. We report a case of a 9-year-old girl who developed seizures after the birth of her younger sister. The combination of clinical observation, laboratory examinations, and video-electroencephalography was not enough to make a confident diagnosis of epilepsy initially. Given her patient history and follow-up investigation, we speculated the two-child policy was related to her seizures. To our knowledge, this is the first report of seizures strongly related to the two-child policy.