Case Reports in Pediatrics最新文献

{"title":"Implantable Loop Recorder Identifies Sustained Ventricular Tachycardia in a Pediatric Patient Despite Negative EP Study: A Case Report.","authors":"Jia Yue Liu, Mohammed T Numan","doi":"10.1155/crpe/9080260","DOIUrl":"https://doi.org/10.1155/crpe/9080260","url":null,"abstract":"<p><p>Experience of loop recorders in pediatric patients is limited. We report using a loop recorder to detect ventricular arrhythmias in a 16-year-old female who had years of palpitations despite inconclusive noninvasive and invasive electrophysiological testing.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9080260"},"PeriodicalIF":0.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant.","authors":"Asal Khalili Dehkordi, Rahim Vakili","doi":"10.1155/crpe/9913412","DOIUrl":"https://doi.org/10.1155/crpe/9913412","url":null,"abstract":"<p><p><b>Background:</b> Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by a constellation of symptoms, including alopecia, hypogonadism, diabetes, mental retardation, and extrapyramidal syndrome. Here, we present a case study of a girl with WSS, focusing on clinical features, genetic analysis, and treatment. <b>Case Description:</b> The patient is a 16-year-old female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. She has first-degree consanguineous parents. Clinical evaluations, laboratory tests, whole-exome sequencing, and karyotyping were performed to diagnose WSS. The patient exhibited notable frontotemporal alopecia, hypogonadism, and intellectual decline. Genetic analysis revealed a homozygous mutation (c.1001 + 1G > A) in the DCAF17 gene, a known causative gene of WSS. In addition to hormone therapy to induce puberty, the patient was referred to neurology for further evaluation. <b>Conclusions:</b> This case highlights the importance of considering WSS in patients with alopecia, hypogonadism, and consanguineous backgrounds. Genetic testing plays a crucial role in diagnosis, while hormone therapy may alleviate some symptoms. WSS is a complex syndrome with varied clinical manifestations, necessitating multidisciplinary treatment. Early recognition and effective management are essential for improving the quality of life of affected individuals.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9913412"},"PeriodicalIF":0.5,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12500345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Virological Remission in Two HIV-Infected Children After Early cART in Libreville, Gabon.","authors":"B Bivigou-Mboumba, C Eyi Zang, P Moussavou-Boundzanga, Y Loumouamou, J F Djoba Siawaya, S Ategbo","doi":"10.1155/crpe/5554276","DOIUrl":"10.1155/crpe/5554276","url":null,"abstract":"<p><p><b>Introduction:</b> Early antiretroviral therapy has a positive impact on the follow-up of an HIV-positive child, allowing assessment of the child's clinical and biological course. We report two cases to highlight the effects of early triple antiretroviral therapy (cART) on viral remission with seroreversion of HIV-infected infants in Gabon. <b>Case Presentation:</b> We present two cases of infants born to HIV-infected mothers in Libreville (Gabon). The first infant was referred to the \"Center Hospitalier Universitaire Mère-Enfant\" (CHUME FJE) with a positive PCR result. He was born to a mother living with HIV, whose adherence to ART had been intermittent (7th and 9th months of pregnancy). Delivery was vaginal. At birth, nevirapine was administered discontinuously for 6 weeks. After a positive GenXpert PCR at 7 weeks, triple therapy was started with abacavir-lamivudine and ritonavir-boosted lopinavir (2IN-1IP). At 2 months, he was asymptomatic, and his clinical and laboratory parameters were normal. A second PCR at another Level 3 reference laboratory (CIRMF) confirmed HIV infection. We switched the antiprotease with an anti-integrase (dolutegravir, which was available). After 9 months of treatment, the patient's nutritional status was considered satisfactory, and the DNA PCR performed on GenXpert was negative. The second infant born to a mother living with HIV was admitted for posthospital monitoring of perinatal asphyxia. He was born by caesarean section, and nevirapine had been administered from birth. He was put on ART after two positive PCRs with zidovudine-lamivudine -nevirapine. At 4 months, the GenXpert DNA PCR became negative. <b>Conclusion:</b> Virological remission with seroreversion of a previously HIV-infected infant is possible in Gabon. Further immunological (Ac assay) and virological (ultrasensitive proviral DNA on blood mononuclear cells) tests are needed in this infant to determine his definitive status.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"5554276"},"PeriodicalIF":0.5,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Physical Child Abuse Presenting as Septic Shock: A Case Report of Traumatic Hemoperitoneum.","authors":"Madalena Carvalho, Catarina Nunes, Rita Martins, Mariana Silva, Carlos Escobar, Helena Isabel Almeida","doi":"10.1155/crpe/5615796","DOIUrl":"10.1155/crpe/5615796","url":null,"abstract":"<p><p>Child maltreatment refers to the abuse and neglect of children under the age of 18 and is a prevalent social problem that often goes undetected. To emphasize the importance of this diagnosis, we present the case of a 3-year-old boy who presented in shock with altered consciousness, initially managed as sepsis, but was ultimately diagnosed with severe physical abuse after imaging revealed a traumatic hemoperitoneum. With this article, we aim to remind healthcare providers to consider this diagnosis, even in severely ill children.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"5615796"},"PeriodicalIF":0.5,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Abducens Nerve Palsy in an Adolescent With Confounding Multisystem Serology: A Case Report and Diagnostic Review.","authors":"Roberto Paparella, Irene Bernabei, Fabiola Panvino, Camilla Ajassa, Lorenzo Benedetti, Lucia Leonardi, Alberto Spalice, Luigi Tarani","doi":"10.1155/crpe/2146062","DOIUrl":"10.1155/crpe/2146062","url":null,"abstract":"<p><p>Cranial nerve palsies in pediatric patients are rare and can be challenging to diagnose due to the broad spectrum of potential causes, including infections, inflammation, neoplasms, and idiopathic conditions. Abducens nerve palsy (ANP), though uncommon, is of particular interest due to its association with both intracranial and systemic pathologies. We present the case of a 16-year-old male who developed isolated left ANP of presumed infectious-inflammatory origin. Initial neurological and ophthalmological assessments revealed esotropia and marked abduction deficit without other cranial nerve involvement. Brain magnetic resonance imaging showed enhancement of the left abducens nerve consistent with neuritis, while cerebrospinal fluid analysis and initial laboratory investigations were unremarkable. Serological testing revealed low-positive IgM for <i>Mycoplasma pneumoniae</i>, <i>Chlamydia pneumoniae</i>, Herpes simplex virus (HSV)-1/2, and <i>Borrelia burgdorferi</i>, while polymerase chain reaction for HSV and Borrelia were negative. The patient was treated with corticosteroids, antibiotics, and antivirals, showing mild improvement in eye mobility, and follow-up imaging revealed resolution of the inflammatory changes. Despite persistent low IgM positivity in subsequent tests, the patient fully recovered within 6 months. Although the exact etiology remains unclear, the combination of clinical response and serological findings suggests a possible infectious or immune-mediated process. This case underscores the diagnostic complexity of pediatric ANP and highlights the importance of considering a broad differential diagnosis and using a multidisciplinary approach in management. Further research is needed to better understand the role of mild serological findings and improve diagnostic strategies for such conditions.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"2146062"},"PeriodicalIF":0.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa.","authors":"Lauren Yacobucci, Carli Edwards, Annika Van Oosbree, Roger Newman","doi":"10.1155/crpe/5515564","DOIUrl":"10.1155/crpe/5515564","url":null,"abstract":"<p><p>Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress-induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the <i>COL7A1</i> gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging. We report a case of a male infant delivered at 35 weeks and 6 days via cesarean delivery to a mother with a complicated medical and obstetric history, including sickle cell disease and intrauterine fetal demise of one twin. At birth, the infant exhibited denuded skin on the right lower extremity and later developed erosions at peripheral IV sites. Initial differential diagnoses included infectious etiologies and Type V aplasia cutis. Infectious workup was unremarkable. An epidermolysis bullosa genetic panel identified a heterozygous pathogenic variant in <i>COL7A1</i> (c.6007G > A, p.Gly2003Arg), confirming the diagnosis of dominant DEB. The infant was managed with supportive wound care and discharged in stable condition with dermatology and genetics follow-up. This case underscores the importance of considering DEB in the differential diagnosis of neonatal skin lesions, especially in the context of a complex perinatal history. Early recognition and genetic confirmation are essential for appropriate management and family counseling.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"5515564"},"PeriodicalIF":0.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12463524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Sepsis Caused by Human Parechovirus Type A3 With Marked Hyperferritinemia: A Case Report.","authors":"Fumihiro Ochi, Mao Niida, Ayumi Sawada, Kozo Nagai, Hitomi Hino, Koji Takemoto, Hisamichi Tauchi","doi":"10.1155/crpe/8815738","DOIUrl":"10.1155/crpe/8815738","url":null,"abstract":"<p><p><b>Background:</b> In neonates and young infants, human parechovirus A3 (PeV-A3) is associated with severe infections, such as sepsis and encephalomyelitis. However, the mechanisms behind severe illness and the proper indications and methods for treatment remain ambiguous. <b>Case Report:</b> A previously healthy 25-day-old female was admitted to our hospital with a history of high-grade fever, a growling voice, and poor feeding. Upon examination, she appeared lethargic and somnolent, exhibiting symptoms of tachycardia, tachypnea, and peripheral coolness. Sepsis evaluations, including the FilmArray Meningitis/Encephalitis panel, confirmed the presence of PeV-A3 infection. Empirical antibiotic therapy with ampicillin and cefotaxime was started. The fever subsided by Day 4, and a negative bacterial culture indicated that antibiotics were no longer necessary. However, on Day 5, the patient experienced a drop in platelet count, elevated liver enzymes, and hyperferritinemia (ferritin level of 37,223 ng/mL). Despite the high ferritin levels, hemophagocytic lymphohistiocytosis (HLH) was not observed, and the patient was treated without immunosuppressive therapy. Her condition improved, and she was discharged on Day 14. The isolated PeV was genotyped as PeV-A3. <b>Conclusions:</b> PeV-A3 infections often link to hyperferritinemia. Although some studies indicate that steroids and immunosuppressants might be beneficial, this case shows that diligent observation could be adequate, even with high ferritin levels. Monitoring clinical status and lab results to assess whether treatment is necessary is crucial.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"8815738"},"PeriodicalIF":0.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12463508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis.","authors":"Silvia Lakatošová, Michaela Miklošovičová, Michal Konečný, Lenka Wachsmannová, Gabriela Krasňanská, Mária Kopčíková, Petra Keményová, Miroslav Tomka, Jana Lisyová, Daniela Ostatníková, Gabriela Repiská","doi":"10.1155/crpe/8859738","DOIUrl":"10.1155/crpe/8859738","url":null,"abstract":"<p><p>Here, we present a case study of twin boys aged 2 and 7 years who both met the diagnostic criteria for autism spectrum disorders (ASDs) based on the standard diagnostic instruments ADOS-2 and ADI-R. The clinical indication for genetic diagnostics in the first boy was autism with high severity of symptoms, delayed speech development, and mild facial dysmorphia. The second boy's indication was autism with moderate severity of symptoms, delayed speech development, mild facial features, slowed psychomotor development, and microcephaly. The microarray-based analysis of chromosome aberrations revealed a heterozygous 977,456 bp deletion of region 10q26.3 in both boys. The region includes 28 genes, some of these genes are important in the development of the central nervous and urogenital systems, and heterozygous deletions in this region have been associated with mental retardation, growth and development disorders, and craniofacial anomalies. The whole exome sequencing confirmed the presence of this deletion in both boys and, at the same time, led to the identification of a pathogenic SNV variant in the TRIO gene in the boy with microcephaly and delayed psychomotor development, which may explain the different phenotype of both boys. However, the segregation analysis of these variants in the family revealed that the microdeletion was inherited from the asymptomatic father, and the c.2149C > T variant in the TRIO gene was inherited from the asymptomatic mother, making the diagnostic finding uncertain. This case highlights that when pathogenic or likely pathogenic variants are inherited from unaffected parents, the clinical phenotype may result from a combined burden of multiple rare variants and polygenic risk, underscoring the importance of a comprehensive genomic analysis in complex cases. Thus, we emphasize the importance of utilizing available methods, such as whole exome sequencing besides microarray-based comparative genomic hybridization, in the genetic diagnosis of autism patients in Slovakia.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"8859738"},"PeriodicalIF":0.5,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12453924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Pediatric Case of Benzodiazepine Poisoning Diagnosed Following the Appearance of a Brilliant Blue Tongue.","authors":"Yuri Hayashi, Takayuki Miyamoto, Manami Suzuki, Hiroki Sato, Atsumi Takechi, Shuji Fujino, Akiyoshi Takahashi, Tsutomu Watanabe","doi":"10.1155/crpe/8864772","DOIUrl":"10.1155/crpe/8864772","url":null,"abstract":"<p><p>Benzodiazepines are one of the commonly used prescription anxiolytic drugs; however, they are increasingly used for drug abuse, drug crime, and sometimes for medical child abuse. To prevent misuse of high-potency benzodiazepines, some of them are currently manufactured as a tablet with a speckled blue core that dyes liquid blue when dissolved in drinks. Diagnosing drug poisoning, especially in cases of medical child abuse, can be challenging when signs of ingesting drugs, including empty medical packages, are missing. Herein, we report an infant's case of benzodiazepine poisoning, who was diagnosed with disturbed consciousness and a blue-colored tongue. An 11-month-old boy was referred to our hospital as his tongue was colored blue. According to his family, no blue-colored items were found around him when they noticed his tongue was blue. Physical examination revealed his consciousness was slightly disturbed. Benzodiazepine poisoning was suspected from his level of consciousness and blue-colored tongue, and it was detected using a urine drug test kit (SIGNIFY ER). Medical child abuse was suspected, as accidental ingestion was not likely to happen in the circumstances heard from his family members. Everyone around him denied having benzodiazepine, and how he ingested the medicine was not revealed despite intensive investigation by the police. Benzodiazepine poisoning should be considered in patients presenting with a blue tongue with disturbed consciousness. Adding dyes to medicines commonly used for poisoning may be helpful in recognizing and preventing child abuse.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"8864772"},"PeriodicalIF":0.5,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12453917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome Sequencing.","authors":"Silvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, Robert Spaull, Ala Fadilah, Kathreena Kurian, Kayal Vijayakumar, Sarah Smithson, Anirban Majumdar","doi":"10.1155/crpe/3604592","DOIUrl":"10.1155/crpe/3604592","url":null,"abstract":"<p><p>We describe a three-year-old girl with an unusual c-terminal binding protein 1 (<i>CTBP1</i>) gene variant. She presented with features of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS), following numerous chest infections, poor weight gain and delayed motor development during the early years. After many years of genetic testing where no diagnosis was found, whole genome sequencing (WGS) identified a missense variant in the <i>CTBP1</i> gene (NM_001012614.1): c.991C > T p.(Arg331Trp). We present some of the brain MRI (cerebellar atrophy) and muscle biopsy features (central nuclei/cores) characteristic of this condition. The underlying mechanisms have not yet been elucidated. Although the clinical features make this condition recognisable, we are aware that in the small community of patients with this condition, the time to diagnosis may be exceptionally long. WGS has allowed us to accelerate this process. We are hopeful that earlier identification will bring better care for the affected children and allow the genetic implications to be discussed with their families.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"3604592"},"PeriodicalIF":0.5,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12436017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}