EI Compendex Source List（2022年1月）
EI Compendex Source List（2020年1月）
EI Compendex Source List（2019年5月）
EI Compendex Source List（2018年9月）
EI Compendex Source List（2018年5月）
EI Compendex Source List（2018年1月）
中国科学引文数据库来源期刊列
CSSCI(2017-2018)及扩展期刊目录
2017年4月7日EI检索目录（最新）
2017年3月EI检索目录
最新公布北大中文核心期刊目录
SCI期刊（含影响因子）
论文范文
1. Introduction X-linked ichthyosis (XLI) is an X-linked recessive disorder with a prevalence of approximately 1 : 4,000, demonstrating dry, scaly skin due to a deficiency of the enzyme steroid sulfatase [1]. While patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion can present with attention-deficit hyperactivity disorder (ADHD), those with larger deletions including neighboring genes such as neuroligin 4 (NLGN4) may present with autism in addition to ADHD [2, 3]. We present a case of XLI with ADHD and mild autism due to a recurrent ~2 Mb deletion which spared the NLGN4 gene. 2. Case Presentation A 5-year-old boy (43 inches, 50th percentile, and 42 lbs, 50th percentile) presented to Parkside Medical Group (Upland, CA) for a neurological evaluation. His mother remembered being told that he might have intellectual disability based on blood tests and an amniocentesis; however, these test results were not available. Otherwise, the pregnancy history and delivery were normal. He weighed 6 lbs 10 oz (20th percentile) at birth, walked at 14 months, and said “mama” and “papa” at 8-9 months. During early childhood he did not want to be around other children. He adhered to routines; for example, when his father would change his favorite TV channel he would become very angry. He spoke Spanish and some English. He attended special education at a preschool level and he could count up to 100. However, he could not focus in school. He was diagnosed with ADHD and mild autism based on the DSM V criteria by a child psychologist six months prior to the neurology visit. He was started on amphetamine-dextroamphetamine ER 10 mg daily, which improved his behavior both at home and at school. He started participating more in group activities. On exam, he was found to have a high anterior hairline, a triangular face, a short chin, widely spaced eyes, prominent nasal bridge, and conical teeth (Figure 1). There were no corneal opacities or preauricular scales. He was able to answer questions about his name, age, and what he liked, but there was a lack of reciprocity and eye contact. There were no tics. However, he was fidgety, could not wait his turn, was wandering about, was talking excessively in Spanish, and was interrupting his parents at times. Therefore, his Adderall XR was increased to 20 mg daily, but he became weepy and emotional; hence the dose was lowered back to 10 mg daily, but 7 months later the dose had to be increased back to 15 mg daily due to his persistent symptoms of ADHD. He was also treated for insomnia with guanfacine 0.5 mg at night. Of note, he had a history of asthma and was being treated with budesonide 0.5 mg/2 mL suspension and montelukast 4 mg daily. Family history was unremarkable. He has an 11-year-old healthy sister. There was no history of consanguinity. His EKG was normal. There was no history of seizures; EEG was not performed due to lack of cooperation. His lab results were all normal (cholesterol, TG, HDL, LDL, FSH, LH, TSH, ACTH, vitamin A, free retinol, and plac Lp PLA2) except for human growth hormone, which was elevated (1.6 ng/ml; normal range 0.01–0.97 ng/ml). He tested negative for fragile X syndrome with 29 CGG repeats. Chromosomal microarray (CMA), performed at the Mayo Clinic (Rochester, MN), demonstrated a 1.7 Mb deletion at Xp22.31 (Figure 2), which included 6 genes; STS, pseudouridine 5′-phosphatase (PUDP), microRNA 4767 (MIR4767), variable charge, X-linked (VCX), patatin-like phospholipase domain containing 4 (PNPLA4), and microRNA 651 (MIR651), which was consistent with the diagnosis of XLI [4, 5]. CMA was performed using both copy number and single-nucleotide polymorphism (SNP) probes on a whole genome array (CytoScan HD platform) (Affymetrix). The genome-wide functional resolution of this array is approximately 30 kb for deletions and 60 kb for duplications. The presence of dry, scaly skin on his abdomen and pretibial areas (Figure 1) was confirmed after receiving the results of the array. There were no signs of cryptorchidism. The patient’s mother could not be tested due to lack of insurance coverage. 
|
|
|
