Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion [0.03%]
7q11.23远端缺失的遗传性全面性癫痫及家族内表型变异
Veronica Birca,Kenneth A Myers
Veronica Birca
Background: Distal 7q11.23 deletions are variably associated with epilepsy, intellectual disability and neurobehavioural abnormalities. The relative importance of different genes in this region in contributing to different phenotypes is not...
A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome [0.03%]
普氏-霍普金斯综合征伴严重屏气发作青少年应用托吡酯的病例报告
Megan Bone,Kimberly Goodspeed
Megan Bone
Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disability, delayed motor development, and absent speech. Patients often show symptoms of respiratory dysrhythmia, including episodes of hyper...
Startle Seizures and Diffuse Leukoencephalopathy After Resolution of Herpes Simplex Virus 1 Encephalitis in a Child [0.03%]
疱疹性脑炎治愈后发生的惊跳发作及弥漫性白质脑病病例报告
Andy Cheuk-Him Ng,Janani Kassiri,Helly R Goez et al.
Andy Cheuk-Him Ng et al.
We describe a unique clinical presentation of a child after the acute phase of herpes simplex virus 1 (HSV1) encephalitis. A 17-month-old boy first presented with HSV1 encephalitis and was promptly treated with antiviral medication. Seven m...
Characteristic Neuro-Linguistic Styles in Young Arabic Speaking Children Diagnosed with ASD [0.03%]
年轻阿拉伯语自闭症谱系障碍儿童的神经语言风格特征分析研究
Gary Diamond,Eman Badir,Shelly Almog et al.
Gary Diamond et al.
Evaluations of all Arabic speaking children age 3-9.0 years with significant speech delays or impairments, referred to a community based, child development center in the public health care system during a 5-year period were reviewed. Use of...
Refractory MOG-Associated Demyelinating Disease in a Pediatric Patient [0.03%]
一名儿童患者中复发难治的MOG相关脱髓鞘病
Eve Kroenke,Alex Ankar,Nikita Malani Shukla
Eve Kroenke
Background: MOG antibody associated demyelinating disease (MOGAD) is a newly described autoimmune disorder that presents with monophasic or multiphasic demyelination in children. Case: We report a case of MOGAD that was refractory to curren...
A Case of Neonatal Seizures With an Unusual Electroclinical Pattern [0.03%]
一例具有不典型电-临床表现的新生儿癫痫发作病例报告
Neil Kulkarni,Jackson Mittlesteadt,Jorge Vidaurre
Neil Kulkarni
Benign familial neonatal epilepsy is a syndrome characterized by recurrent seizures occurring in the neonatal period. Seizures commonly begin at day 3 of life and usually abate by 1 to 4 months of life. Seizures are usually described as ton...
A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder [0.03%]
8p22-21.3号染色体1.0Mb的新重复序列与自闭症光谱障碍患者相关
Ping Dong,Qiong Xu,Yu An et al.
Ping Dong et al.
Autism spectrum disorders are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5% to 10% of the patients with autism spectrum disorders. In this study, the authors prese...
Bilateral Ptosis, Zosteriform Rash and Flaccid Bladder in a 10-Year-old boy [0.03%]
一名10岁男孩的双侧眼睑下垂、带状疱疹样皮疹和无张力膀胱症病例报告
Sara Adducchio,Irma Reyes,Mahesh Chikkannaiah et al.
Sara Adducchio et al.
We present a case report of a 10-year-old completely immunized boy presenting with a 2-week history of bilateral eyelid drooping, fatigue followed by bladder and bowel paralysis. This was followed by the appearance of a vesicular painful an...
Anything But Typical [0.03%]
绝不普通
Xinran Maria Xiang
Xinran Maria Xiang
A graduating child neurology resident reflects upon how her first neurology "patient" single-handedly taught her an entire textbook worth of knowledge and became the guiding force that led her to leave general pediatrics. ...
Emily Malamud,Scott I Otallah
Emily Malamud
Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder associated with mutations of the CACNA1A gene.1 Because there is no curative therapy available, EA2 is typically managed symptomatically. First line treatment has typically ...