Translational pediatrics最新文献

{"title":"46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.","authors":"Xue-Qin Zheng, Qiao-Li Zhou, Wei Gu","doi":"10.21037/tp-24-327","DOIUrl":"10.21037/tp-24-327","url":null,"abstract":"<p><strong>Background: </strong>The development of the testes is a tightly regulated process, requiring the coordination of multiple genes. Mutations in these genes can result in 46,XY gonadal dysgenesis. <i>NR0B1</i>, located at Xp21, is a gene expressed in the developing adrenals, gonads, hypothalamus, and pituitary gland. Duplication of this area causes dosage sensitive male-to-female sex reversal and involves multisystem abnormalities. The heterogeneity in clinical phenotypes is attributed to variations in the size of the duplicated segments. Herein, we present a case with 46,XY disorders of sex development and muscular dystrophy due to Xp21 duplication.</p><p><strong>Case description: </strong>A 5-month-old boy was admitted to our hospital due to gonadal dysgenesis. The patient was born to a healthy couple after 37+4 weeks of pregnancy and with a natural delivery. In the course of the disease, the child showed marked growth retardation, elevated muscle enzymes and liver enzymes. During the follow-up, he developed hypotonia and low muscle strength. Chromosomal microarray analysis (CMA) testing uncovered a 7.79 Mb duplication at Xp21 in both the patient and his mother, encompassing 30 coding genes, including the <i>NR0B1</i> and <i>DMD</i> genes.</p><p><strong>Conclusions: </strong>The duplication of Xp21 can result in a rare genetic disorder characterized by various abnormalities in males, including short stature, mental retardation, muscular dystrophy, and gonadal dysplasia. These symptoms are often overlooked and misdiagnosed. Targeted gene detection should be completed to enable early diagnosis and intervention to improve prognosis. This study has enhanced clinicians' understanding of the disease.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"2088-2096"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethics of trial of effect of parental touch on relieving acute procedural pain in neonates.","authors":"Denise Harrison, Mariana Bueno","doi":"10.21037/tp-24-324","DOIUrl":"10.21037/tp-24-324","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"1909-1912"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of a newborn who underwent ultra-high enterostomy and intestinal fluid return after necrosis of intestinal volvulus.","authors":"Liru Cui, Xiaohui Zhang, Ye Liu, Yongwei Chen","doi":"10.21037/tp-24-214","DOIUrl":"10.21037/tp-24-214","url":null,"abstract":"<p><strong>Background: </strong>Neonatal intestinal malrotation complicated by midgut volvulus is a serious and common life-threatening complication. When the midgut volvulus is prolonged or severe, it can lead to secondary necrosis of the entire midgut, with high mortality rates. Therefore, improving understanding the clinical characteristics of this condition is necessary to facilitate early diagnosis and treatment. Herein, we report a case of congenital intestinal malrotation and necrosis of the midgut volvulus in a newborn.</p><p><strong>Case description: </strong>The patient was admitted to the hospital with vomiting, abdominal distension, and bloody stools. An emergency laparotomy revealed a large-area necrosis of the small intestine and torsion of the mesenteric root. External intestinal placement was performed initially, followed by a secondary laparotomy 72 hours later, which showed complete necrosis of the jejunum but recovery of the ileum. Duodenal and ileal ultra-high position fistulas were created, which were managed by intestinal fluid return and milk micropump feeding. Following that, fistula formation was performed 84 days after the second operation, and full enteral feeding was quickly achieved. The growth and development of the child were good at later follow-ups.</p><p><strong>Conclusions: </strong>The condition of the intestine in severe cases of neonatal intestinal malrotation combined with necrosis of midgut volvulus is unpredictable. The comprehensive management of operation timing, operation method, and close cooperation between neonatal physicians, surgeons, and nursing teams can greatly improve the success rate of treatment.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"2067-2076"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal lead time for treatment of infantile epileptic spasms syndrome-a secondary data analysis.","authors":"Wenrong Ge, Ping Pang, Ziyan Zhang, Lin Wan, Guang Yang","doi":"10.21037/tp-24-334","DOIUrl":"10.21037/tp-24-334","url":null,"abstract":"<p><strong>Background: </strong>Infantile epileptic spasms syndrome (IESS) is a common epileptic syndrome in infancy. Current first-line treatments include adrenocorticotropic hormone (ACTH), corticosteroids and vigabatrin, with early control of epileptic spasms potentially benefiting long-term outcomes, such as improved psychomotor development. Early treatment, which means the prompt use of first-line treatments, is crucial for achieving an initial response in IESS. However, to date, no clear definition of the specific timeframe that constitutes early treatment has been identified. The objective of this study is to perform a secondary analysis of our previously published IESS cohort data to determine a suitable lead time.</p><p><strong>Methods: </strong>An analysis was conducted using a cohort of 263 children with IESS who had previously received ACTH first-line treatment. This study investigated whether intervening within a certain treatment time window could potentially increase or decrease the likelihood of a short-term response.</p><p><strong>Results: </strong>Out of the 263 children with IESS, 108 achieved a short-term response. The lead time of the response group was significantly shorter than that of the non-response group [1.50 (interquartile range, 1.00, 3.00) <i>vs.</i> 2.00 (interquartile range, 1.00, 5.00) months; P=0.003]. A restricted cubic spline graph with several adjusted variables, including time of first spasm and aetiological classification, showed a significant linear relationship between lead time and short-term response and a non-linear trend (inverted U-shaped curve), with a significant inflection point at 1.6 months. Using 1.5 months as the cutoff and dichotomising lead time, the adjusted logistic regression results showed that in children with a lead time >1.5 months, the likelihood of a short-term response decreased with increasing lead time [odds ratio (OR) =0.59, 95% confidence interval (CI): 0.33-0.92, P=0.041), whereas children with a lead time ≤1.5 months showed no significant association between lead time and short-term response (OR =1.03, 95% CI: 0.72-1.47, P=0.89).</p><p><strong>Conclusions: </strong>For children with IESS, initiating first-line treatment within 1.5 months of the onset of spasms is recommended. For those who start first-line treatment after more than 1.5 months from the onset, the likelihood of a short-term response may significantly decrease as the lead time increases.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"1994-2002"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The growth and development of children with β-thalassemia major one year after allogeneic hematopoietic stem cell transplantation.","authors":"Hongfeng Luo, Yun Lin, Caiyun Kuang","doi":"10.21037/tp-24-202","DOIUrl":"10.21037/tp-24-202","url":null,"abstract":"<p><strong>Background: </strong>Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has proven to be an effective curative intervention for children with β-thalassemia major (β-TM). They are susceptible to growth disorders due various factors. The primary objective of this study was to investigate the growth and development of children with β-TM both before and after undergoing allo-HSCT during a one-year follow-up period.</p><p><strong>Methods: </strong>According to the international reference standards for child growth established by the World Health Organization in 2006, participants were divided into two groups based on their Z scores: weight-for-age Z scores (WAZ), height-for-age Z scores (HAZ), and body mass index-for-age Z scores (BAZ) before allo-HSCT. The first group included children with normal nutritional levels (-2≤ Z scores ≤2), while the second group consisted of children with malnutrition (Z scores <-2 or >2). Measurements of weight, height, and body mass index (BMI) were recorded at six time points: prior to allo-HSCT (T0), and 1 month (T1), 3 months (T3), 6 months (T6), 9 months (T9), and 12 months (T12) following the procedure.</p><p><strong>Results: </strong>Among the 56 children diagnosed with β-TM, 25% were malnourished prior to HSCT. In the group with normal nutrition, mean WAZ (P=0.04) and HAZ (P<0.001) values were significantly higher at T12 compared to T0; however, mean BAZ was similar at T12 and T0 (P=0.61). In contrast, in the malnutrition group, no significant differences were observed in mean WAZ (P=0.12), HAZ (P=0.27), or BAZ (P=0.75) values between T12 and T0. Notably, the incidence of increased HAZ was significantly more prevalent in children aged seven years or younger than in those older than seven years (P=0.01).</p><p><strong>Conclusions: </strong>Children diagnosed with β-TM who had normal nutritional levels at the time of allo-HSCT showed significant growth improvements within one year of follow-up compared to their pre-transplantation state. Additionally, the age at which allo-HSCT was performed may substantially influence post-transplantation growth rates. Regular monitoring of growth and development from the time of diagnosis is crucial to ensure optimal nutritional status at the time of allo-HSCT, thereby enhancing the prognosis for these children after transplantation.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"1972-1984"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between maternal gestational diabetes mellitus and offspring cerebral palsy: a two-sample Mendelian randomization study.","authors":"Honghao Peng, Yun Shu, Siyu Lu, Qiongli Fan, Yuping Zhang, Li Ming, Zhifeng Wu","doi":"10.21037/tp-24-260","DOIUrl":"10.21037/tp-24-260","url":null,"abstract":"<p><strong>Background: </strong>Observational studies on the association between gestational diabetes mellitus (GDM) during pregnancy and pediatric neurological disorders (PNDs) such as cerebral palsy (CP), autism spectrum disorders (ASD), and epilepsy (EP) in offspring have yielded mixed findings, creating ambiguity in causal interpretations. The direct link between GDM and these PNDs remains unclear. Elucidating this connection is vital for developing effective early intervention strategies during pregnancy to mitigate the risk of PNDs in the offspring. This study utilizes a two-sample (2-sample) Mendelian randomization (MR) approach to investigate the causal relationship between GDM and its impact on CP, ASD, and EP in offspring.</p><p><strong>Methods: </strong>We employed 2-sample MR using 6 single nucleotide polymorphisms (SNPs) strongly associated with GDM. Summary-level data for CP, ASD, and EP were obtained from the Integrative Epidemiology Unit (IEU) Open Genome-Wide Association Study (GWAS) project, encompassing sample sizes of 217,278, 46,351, and 463,010, respectively. The robustness of our findings was assessed using the inverse variance-weighted (IVW) method along with additional sensitivity analyses.</p><p><strong>Results: </strong>The results demonstrate that GDM is associated with a higher risk of offspring CP as determined by the IVW method [odds ratio (OR): 1.74; 95% confidence interval (CI): 1.27-2.37; P<0.001]. In contrast, no association was observed between GDM and ASD or EP. Additionally, alternative methods for sensitivity analyses showed consistent results, and there was no pleiotropy detected using MR-Egger regression (P=0.48).</p><p><strong>Conclusions: </strong>This study provides strong evidence supporting a positive causal relationship between genetically predicted GDM and the increased risk of offspring CP, with no observed correlation found with ASD or EP.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"1923-1932"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biliary atresia with ectopic thyroid in the porta hepatis: a case report and literature review.","authors":"Li Zhao, Linsheng Zhao, Xiaoli Hu, Zhiru Wang, Jianghua Zhan","doi":"10.21037/tp-24-307","DOIUrl":"10.21037/tp-24-307","url":null,"abstract":"<p><strong>Background: </strong>Ectopic thyroid is a rare disease, with ectopic thyroid in the porta hepatis being extremely rare. We present a rare case involving an infant with biliary atresia (BA) wherein ectopic thyroid tissue was incidentally discovered in the porta hepatis after the Kasai operation.</p><p><strong>Case description: </strong>A 2-month-old boy initially presented with jaundice, manifesting as yellow skin and sclera, on the first day following birth. After receiving treatment at a local healthcare facility, jaundice partially subsided, but the color of his stool became lighter 15 days before admission to Tianjin Children's Hospital. Upon B-ultrasound examination at our outpatient clinic, the patient showed bilateral oblique hernia, bilateral testicular hydrocele, and umbilical hernia, and he was admitted to the Department of Gastroenterology at Tianjin Children's Hospital for further treatment of unexplained jaundice. Laparotomy was performed after a comprehensive evaluation, during which we observed the gallbladder to be small and poorly developed. Cholangiography was then performed, revealing visualization of the gallbladder and common bile duct but not the common hepatic duct or right and left hepatic ducts. Intraoperative frozen section examination of wedge-shaped liver tissue indicated findings consistent with extrahepatic biliary obstruction. The Kasai operation was subsequently performed, and an examination of the gallbladder and a fibrous plaque from the porta hepatis after the operation revealed the presence of ectopic thyroid tissues.</p><p><strong>Conclusions: </strong>Ectopic thyroid in the porta hepatis is extremely rare. We reviewed literature from 1960 to 2022 and identified six relevant case reports of ectopic thyroid in the porta hepatis. To our knowledge, this report constitutes the first report of BA complicated by ectopic thyroid in the porta hepatis.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 11","pages":"2059-2066"},"PeriodicalIF":1.5,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of spleen aminopeptide oral solution for children with allergic rhinitis and adenoid hypertrophy: a randomised trial.","authors":"Yue Huang, Meng Zhao, Chen Lin, Fenghua Qin, Qi Li, Bo Duan, Wenxia Chen, Zhengmin Xu","doi":"10.21037/tp-24-203","DOIUrl":"https://doi.org/10.21037/tp-24-203","url":null,"abstract":"<p><strong>Background: </strong>The spleen aminopeptide oral solution (SAOS) is a solution containing a mixture of polypeptide amino acids and polynucleotides derived from healthy bovine spleen. This study aimed to establish a randomized controlled clinical trial to evaluate the efficacy and safety of SAOS for children with allergic rhinitis (AR) and adenoid hypertrophy (AH).</p><p><strong>Methods: </strong>Children with AR and AH who visited the Otolaryngology Department of the Children's Hospital Affiliated with Fudan University between June 2022 and April 2023 were included. The primary outcome was the adenoid-to-nasopharynx (A/N) ratio, and the secondary outcomes included nasal symptom score, AH score, and medication score. The primary outcome was evaluated before treatment (T0), after 1 month of treatment (T1), and after 2 months of treatment (T2). Blood and urine samples were collected at T0 and T2 for safety evaluation.</p><p><strong>Results: </strong>A total of 78 patients were included, with 36 in the control group and 42 in the SAOS group. As the duration of medication increased, there was a significant decrease in nasal symptom scores (sneezing: F=52.806, P<0.001; runny nose: F=28.802, P<0.001; nasal itching: F=101.272, P<0.001; nasal congestion: F=83.349, P<0.001). Significant improvements in mouth breathing (Z=-2.650, P=0.008) and restless sleep (Z=-2.759, P=0.006) were observed in the SAOS group compared to the control group at T2. Additionally, the difference in scores between T2 and T0 was significantly lower in the SAOS group compared to the control group (Z=-2.299, P=0.02).</p><p><strong>Conclusions: </strong>As an adjuvant therapy for 8 weeks, SAOS could significantly reduce the size of adenoids and improve clinical symptoms associated with AH.</p><p><strong>Trial registration: </strong>The study was registered on the Chinese Clinical Trial Registry website (https://www.chictr.org.cn/) (registration number: ChiCTR2200056763).</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1684-1695"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.","authors":"Masako Ueda","doi":"10.21037/tp-24-131","DOIUrl":"https://doi.org/10.21037/tp-24-131","url":null,"abstract":"<p><p>The completion of the Human Genome Project and tremendous advances in automated high-throughput genetic analysis technologies have enabled explosive progress in the field of genetics, which resulted in countless discoveries of novel genes and pathways. Many phenotype- or disease-associated single nucleotide polymorphisms (SNPs) with a high statistical significance have been identified through numerous genome-wide association studies (GWAS), and various polygenic risk scoring (PRS) schemes have been proposed to identify individuals with a high risk for a certain trait or disorder. Meanwhile, medical education in genetics has lagged far behind, leaving many physicians and healthcare providers unprepared in the genomic era. Thus, there is an urgent need to educate physicians and healthcare providers with basic knowledge and skills in genetics. To facilitate this, some basic terminologies and concepts are discussed in this review. In addition, some important considerations in delineating and incorporating clinical genetic testing in the diagnosis and management of a monogenic disorder are illustrated in a stepwise fashion. Furthermore, the effects of disease-associated SNPs represented by a PRS scheme clearly demonstrated that even the phenotypes of a monogenic disorder due to the same pathogenic variant in family members are modulated by the polygenic background. In human genetics, despite these explosive advancements, we are still far from clearly deciphering the interplay of gene variants to effect unique characteristics in an individual. In addition, sophisticated genome or gene directed therapies are being investigated for numerous disorders. Therefore, evolution in the field of genetics is likely to continue into the foreseeable future. In the meantime, much emphasis should be placed on educating physicians and healthcare professionals to be well-versed and skillful in the clinical use of genetics so that they can fully embrace the new era of precision medicine.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1828-1848"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142627328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histiocytic necrotizing lymphadenitis with autoimmune encephalitis in a child: a case report.","authors":"Yiyun Zhou, Sainan Shu","doi":"10.21037/tp-24-380","DOIUrl":"https://doi.org/10.21037/tp-24-380","url":null,"abstract":"<p><strong>Background: </strong>Histiocytic necrotizing lymphadenitis (HNL) is a rare benign self-limiting inflammatory disease that mainly affects young adults; however, the exact pathogenesis is unknown. A four-year-old child who was diagnosed with HNL combined with autoimmune encephalitis (AE) was admitted to Tongji Hospital of Huazhong University of Science and Technology. This study aimed to describe the clinical characteristics, laboratory tests, imaging findings, and treatment outcomes of this pediatric patient with HNL + AE.</p><p><strong>Case description: </strong>A 4-year-old male child was admitted to our hospital after presenting with a neck mass persisting for over two months and a fever lasting five days. The initial symptom was fever accompanied by lymph node enlargement. The patient was diagnosed with HNL; however, the patient did not respond significantly to treatment, and he continued to have lymph node enlargement and intermittent fever. Some six months later, the patient developed neurological symptoms, including decreased voluntary activity, impaired speech, and reduced appetite. Subsequent serum testing yielded positive results for contactin-associated protein-2 (CASPR2), leading to a diagnosis of CASPR2 antibody-associated encephalitis. The final diagnosis was HNL + AE. The patient's condition improved after the corresponding treatment was administered. Subsequent follow-up examinations indicated no recurrence.</p><p><strong>Conclusions: </strong>This is the first documented case of HNL + AE in a pediatric patient exhibiting typical symptoms of fever, lymph node swelling, and pain, accompanied by acute neurologic symptoms, and an extended disease course. This report provides a reference for the diagnosis of HNL + AE in the future.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1892-1898"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}