The objective is to describe the presentation, evolution, and treatment of a child who presented with acute lung injury secondary to intralesional sclerotherapy with bleomycin for a venous malformation. The patient was a 4-year-old boy with a venous vascular malformation in his left lower limb, treated with percutaneous sclerosis with bleomycin (0.46 mg/kg). In the immediate postoperative period, he developed acute respiratory failure. During his evolution, pulmonary injury secondary to bleomycin was suspected. He received treatment with intravenous corticosteroids, oral corticosteroids, and supportive measures. At one year of follow-up, he was clinically stable and breathing adequately, although imaging studies showed persistent parenchymal involvement. This case reports a rare but serious complication of percutaneous bleomycin treatment. It highlights the need to maintain a high index of suspicion for acute respiratory symptoms, even at low doses, to enable timely diagnosis and treatment.
{"title":"Bleomycin-induced lung injury following intralesional sclerotherapy for vascular malformation.","authors":"Alexia Gasciunas, Belén Barrabino, Maximiliano Salim, Darío Teplisky, Ignacio Formia, Sergio Sierre, Claudio Castaños","doi":"10.5546/aap.2025-10787.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10787.eng","url":null,"abstract":"<p><p>The objective is to describe the presentation, evolution, and treatment of a child who presented with acute lung injury secondary to intralesional sclerotherapy with bleomycin for a venous malformation. The patient was a 4-year-old boy with a venous vascular malformation in his left lower limb, treated with percutaneous sclerosis with bleomycin (0.46 mg/kg). In the immediate postoperative period, he developed acute respiratory failure. During his evolution, pulmonary injury secondary to bleomycin was suspected. He received treatment with intravenous corticosteroids, oral corticosteroids, and supportive measures. At one year of follow-up, he was clinically stable and breathing adequately, although imaging studies showed persistent parenchymal involvement. This case reports a rare but serious complication of percutaneous bleomycin treatment. It highlights the need to maintain a high index of suspicion for acute respiratory symptoms, even at low doses, to enable timely diagnosis and treatment.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510787"},"PeriodicalIF":0.5,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145487512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-13DOI: 10.5546/aap.2025-10845.eng
Oscar Gómez Lund, Facundo Jorro Barón, Cristian García Roig
Introduction. Patient information transfers between professionals on different shifts are a particularly sensitive area for errors and omissions. Our objective was to evaluate the impact of implementing a structured handover (I-PASS) on data omission in patient information transfers between pediatric residents. Population and methods. The study was conducted in a public hospital in the province of Salta, Argentina, from November 14, 2020, to December 14, 2020 (pre-intervention) and from March 15, 2021, to April 15, 2021 (post-intervention). The design was quasi-experimental, before-and-after, uncontrolled. Pre- and post-intervention shift handovers were evaluated. The intervention included training resident physicians in a structured handover using the mnemonic rule I-PASS, teamwork training, and digitized written handover. The quality of the handover was evaluated through direct observation. Results. There were 233 pre-intervention and 245 post-intervention evaluations. The pre- and postintervention comparison showed a significant improvement in most key handover data. Distractions were reduced from 40.8% to 24.1% (p = 0.001); communication of severity increased from 36.8% to 63.2% (p =0.001). Conclusion. The introduction of the I-PASS program reduced the omission of sensitive data and interruptions, without prolonging handover duration.
{"title":"Impact of implementing a structured patient handoff on communication in a pediatrics residency program.","authors":"Oscar Gómez Lund, Facundo Jorro Barón, Cristian García Roig","doi":"10.5546/aap.2025-10845.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10845.eng","url":null,"abstract":"<p><p>Introduction. Patient information transfers between professionals on different shifts are a particularly sensitive area for errors and omissions. Our objective was to evaluate the impact of implementing a structured handover (I-PASS) on data omission in patient information transfers between pediatric residents. Population and methods. The study was conducted in a public hospital in the province of Salta, Argentina, from November 14, 2020, to December 14, 2020 (pre-intervention) and from March 15, 2021, to April 15, 2021 (post-intervention). The design was quasi-experimental, before-and-after, uncontrolled. Pre- and post-intervention shift handovers were evaluated. The intervention included training resident physicians in a structured handover using the mnemonic rule I-PASS, teamwork training, and digitized written handover. The quality of the handover was evaluated through direct observation. Results. There were 233 pre-intervention and 245 post-intervention evaluations. The pre- and postintervention comparison showed a significant improvement in most key handover data. Distractions were reduced from 40.8% to 24.1% (p = 0.001); communication of severity increased from 36.8% to 63.2% (p =0.001). Conclusion. The introduction of the I-PASS program reduced the omission of sensitive data and interruptions, without prolonging handover duration.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510845"},"PeriodicalIF":0.5,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145487492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-06DOI: 10.5546/aap.2025-10782.eng
Mateo J Murcia Ramos, María F Rodríguez Banda, Natalia M Mazo Correa, Gustavo A Giraldo Ospina
VACTERL association refers to the concomitant occurrence of congenital malformations such as vertebral defects, anorectal malformations, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects. This case describes a newborn girl who presented with anomalies compatible with this association, such as scoliosis, sacral dysgenesis, right lower phocomelia, and multicystic renal dysplasia, also associated with myelomeningocele, which was surprising as it occurred concomitantly with the other congenital malformations. Although neural tube defects are not part of the classic criteria for VACTERL, their coexistence with the characteristic malformations of this association raises the possibility of broadening its phenotypic spectrum, encourages debate on the inclusion of new criteria to define it, and highlights the importance of considering systematic evaluation of the spinal cord in screening, aspects that have been little explored in Latin America.
{"title":"Myelomeningocele in a newborn with VACTERL association.","authors":"Mateo J Murcia Ramos, María F Rodríguez Banda, Natalia M Mazo Correa, Gustavo A Giraldo Ospina","doi":"10.5546/aap.2025-10782.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10782.eng","url":null,"abstract":"<p><p>VACTERL association refers to the concomitant occurrence of congenital malformations such as vertebral defects, anorectal malformations, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects. This case describes a newborn girl who presented with anomalies compatible with this association, such as scoliosis, sacral dysgenesis, right lower phocomelia, and multicystic renal dysplasia, also associated with myelomeningocele, which was surprising as it occurred concomitantly with the other congenital malformations. Although neural tube defects are not part of the classic criteria for VACTERL, their coexistence with the characteristic malformations of this association raises the possibility of broadening its phenotypic spectrum, encourages debate on the inclusion of new criteria to define it, and highlights the importance of considering systematic evaluation of the spinal cord in screening, aspects that have been little explored in Latin America.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510782"},"PeriodicalIF":0.5,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145436608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-30DOI: 10.5546/aap.2025-10769.eng
Agustina Décimo, Macarena Darré, Manuel Linares, Rodrigo Álvarez, Diego Rodríguez Schulz
Autoimmune encephalitis (AE) is a neurological disease mediated by autoantibodies, with the anti-NMDA form being the most common. Its clinical presentation in children is usually less evident than in adults, with a predominance of motor symptoms and an absence of neuropsychiatric symptoms. Early diagnosis is difficult due to a lack of clinical suspicion. We present the case oaf a six-month-old infant with status epilepticus and initial herpetic meningoencephalitis, who later presented with loss of developmental milestones and involuntary movements. The detection of antibodies in cerebrospinal fluid confirmed the diagnosis of anti-NMDA encephalitis. Treatment with glucocorticoids and intravenous immunoglobulin was administered, with a favorable response and progressive recovery. This case highlights the importance of considering AE in infants with loss of developmental milestones and involuntary movements. Early diagnosis and treatment are crucial for a favorable prognosis and prevention of sequelae.
{"title":"Autoimmune encephalitis in an infant: a diagnostic challenge in early childhood.","authors":"Agustina Décimo, Macarena Darré, Manuel Linares, Rodrigo Álvarez, Diego Rodríguez Schulz","doi":"10.5546/aap.2025-10769.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10769.eng","url":null,"abstract":"<p><p>Autoimmune encephalitis (AE) is a neurological disease mediated by autoantibodies, with the anti-NMDA form being the most common. Its clinical presentation in children is usually less evident than in adults, with a predominance of motor symptoms and an absence of neuropsychiatric symptoms. Early diagnosis is difficult due to a lack of clinical suspicion. We present the case oaf a six-month-old infant with status epilepticus and initial herpetic meningoencephalitis, who later presented with loss of developmental milestones and involuntary movements. The detection of antibodies in cerebrospinal fluid confirmed the diagnosis of anti-NMDA encephalitis. Treatment with glucocorticoids and intravenous immunoglobulin was administered, with a favorable response and progressive recovery. This case highlights the importance of considering AE in infants with loss of developmental milestones and involuntary movements. Early diagnosis and treatment are crucial for a favorable prognosis and prevention of sequelae.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510769"},"PeriodicalIF":0.5,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145375682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-09DOI: 10.5546/aap.2025-10745.eng
Mercedes Ruiz Brunner, Gabriela Macagno, Mariana Laquis, Elisabeth Cieri, Mariel Gabe, Ana L Condinanzi, Carla Gil, Eduardo Cuestas
Avoidant/restrictive food intake disorder (ARFID), defined by the DSM-5, affects children's growth and development and is common in those with autism spectrum disorder (ASD). This update aims to describe the causes, consequences, detection strategies, and therapeutic approaches to ARFID in children diagnosed with ASD, based on published scientific articles. Original articles, reviews, meta-analyses, and clinical trials published between January 2016 and February 2025 in peer-reviewed journals were included in this review. The search was conducted in PubMed, Cochrane Library, and Google Scholar using the descriptors "ARFID AND AUTISM." Only fulltext studies in English or Spanish focusing on the pediatric population were considered; we found 23 relevant publications. This study explores how ASD characteristics can influence ARFID symptoms. Considering the findings, recommendations, and treatments based on clinical trials and meta-analyses are analyzed.
{"title":"Avoidant/restrictive food intake disorder in childhood autism: a narrative review.","authors":"Mercedes Ruiz Brunner, Gabriela Macagno, Mariana Laquis, Elisabeth Cieri, Mariel Gabe, Ana L Condinanzi, Carla Gil, Eduardo Cuestas","doi":"10.5546/aap.2025-10745.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10745.eng","url":null,"abstract":"<p><p>Avoidant/restrictive food intake disorder (ARFID), defined by the DSM-5, affects children's growth and development and is common in those with autism spectrum disorder (ASD). This update aims to describe the causes, consequences, detection strategies, and therapeutic approaches to ARFID in children diagnosed with ASD, based on published scientific articles. Original articles, reviews, meta-analyses, and clinical trials published between January 2016 and February 2025 in peer-reviewed journals were included in this review. The search was conducted in PubMed, Cochrane Library, and Google Scholar using the descriptors \"ARFID AND AUTISM.\" Only fulltext studies in English or Spanish focusing on the pediatric population were considered; we found 23 relevant publications. This study explores how ASD characteristics can influence ARFID symptoms. Considering the findings, recommendations, and treatments based on clinical trials and meta-analyses are analyzed.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510745"},"PeriodicalIF":0.5,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145237806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-09DOI: 10.5546/aap.2025-10873.eng
Guadalupe Albornoz, Romina Valerio
{"title":"Prenatal pediatric consultation in low-risk pregnancies.","authors":"Guadalupe Albornoz, Romina Valerio","doi":"10.5546/aap.2025-10873.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10873.eng","url":null,"abstract":"","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510873"},"PeriodicalIF":0.5,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145237735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-02DOI: 10.5546/aap.2025-10778.eng
Federico Herranz, María B Cavagnaro, Gabriela Pérez Raffo
Profound prelingual sensorineural hearing loss affects oral language development. Cochlear implants, especially at an early age, enable the acquisition of functional auditory and language skills. This observational, retrospective, longitudinal study evaluated the auditory-language performance of 15 children with profound bilateral prelingual hearing loss who underwent bilateral cochlear implantation before the age of 5 and were followed up at 2 and 5 years after activation. We used an ad hoc functional scale to classify performance. The median age at implantation was 1.8 years (0.7-3.7). At 2 years, three patients showed excellent performance; at 5 years, 10 achieved this. Eleven children showed improvement between the two assessments, with no deterioration in any case.
{"title":"Auditory and language performance of children with bilateral profound hearing loss following simultaneous bilateral cochlear implantation: An observational study.","authors":"Federico Herranz, María B Cavagnaro, Gabriela Pérez Raffo","doi":"10.5546/aap.2025-10778.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10778.eng","url":null,"abstract":"<p><p>Profound prelingual sensorineural hearing loss affects oral language development. Cochlear implants, especially at an early age, enable the acquisition of functional auditory and language skills. This observational, retrospective, longitudinal study evaluated the auditory-language performance of 15 children with profound bilateral prelingual hearing loss who underwent bilateral cochlear implantation before the age of 5 and were followed up at 2 and 5 years after activation. We used an ad hoc functional scale to classify performance. The median age at implantation was 1.8 years (0.7-3.7). At 2 years, three patients showed excellent performance; at 5 years, 10 achieved this. Eleven children showed improvement between the two assessments, with no deterioration in any case.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510778"},"PeriodicalIF":0.5,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01Epub Date: 2025-05-22DOI: 10.5546/aap.2024-10575.eng
Laura Castro, Carolina Davenport
Autoimmune hemolytic anemia due to Donath-Landsteiner biphasic hemolysin represents a real diagnostic challenge due to its low frequency and the complex methodology involved in the test used to confirm it. It usually presents abruptly in previously healthy children, secondary to a viral infection. The symptoms derived from the intense intravascular hemolysis are often confused with sepsis. Although its evolution is self-limited and has a good prognosis, it usually causes prolonged hospitalization with potential morbidity due to the performance of complementary tests and unnecessary treatments. The case of a child diagnosed with autoimmune hemolytic anemia secondary to biphasic hemolysin is presented to highlight the importance of timely diagnosis for adequate treatment.
{"title":"Autoimmune hemolytic anemia due to biphasic Donath-Landsteiner hemolysin: a diagnostic challenge.","authors":"Laura Castro, Carolina Davenport","doi":"10.5546/aap.2024-10575.eng","DOIUrl":"10.5546/aap.2024-10575.eng","url":null,"abstract":"<p><p>Autoimmune hemolytic anemia due to Donath-Landsteiner biphasic hemolysin represents a real diagnostic challenge due to its low frequency and the complex methodology involved in the test used to confirm it. It usually presents abruptly in previously healthy children, secondary to a viral infection. The symptoms derived from the intense intravascular hemolysis are often confused with sepsis. Although its evolution is self-limited and has a good prognosis, it usually causes prolonged hospitalization with potential morbidity due to the performance of complementary tests and unnecessary treatments. The case of a child diagnosed with autoimmune hemolytic anemia secondary to biphasic hemolysin is presented to highlight the importance of timely diagnosis for adequate treatment.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410575"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01Epub Date: 2025-02-13DOI: 10.5546/aap.2024-10580
Sofía Grinenco, Guadalupe Albornoz Crespo, María J Bosaleh, Pablo Brener, Horacio Aiello, Lucas Otaño, César Meller, Alejandra Villa
Congenital heart diseases are the most frequent birth defects, and one of the main causes of perinatal morbidity and death. Early diagnosis allows a timely treatment and improves the patients' prognosis. Early detection includes screening studies during the first and second trimesters of pregnancy, a neonatal complete clinical examination and the neonatal pulse oximetry test. The aim of this consensus is to present recommendations for early detection and diagnosis of congenital heart disease.
{"title":"[Consensus on early detection of congenital heart disease].","authors":"Sofía Grinenco, Guadalupe Albornoz Crespo, María J Bosaleh, Pablo Brener, Horacio Aiello, Lucas Otaño, César Meller, Alejandra Villa","doi":"10.5546/aap.2024-10580","DOIUrl":"10.5546/aap.2024-10580","url":null,"abstract":"<p><p>Congenital heart diseases are the most frequent birth defects, and one of the main causes of perinatal morbidity and death. Early diagnosis allows a timely treatment and improves the patients' prognosis. Early detection includes screening studies during the first and second trimesters of pregnancy, a neonatal complete clinical examination and the neonatal pulse oximetry test. The aim of this consensus is to present recommendations for early detection and diagnosis of congenital heart disease.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410580"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01Epub Date: 2025-04-03DOI: 10.5546/aap.2024-10522.eng
Jimena Dri, Eugenia Dos Santos, Adriana Fernández, Florencia Galdeano, María J Guillamondegui, Cristina Gatica
Trichothiodystrophy is a rare neuroectodermal defect characterized by sparse and brittle hair, photosensitivity, intellectual disability, and short stature. With an incidence of 1.2 per million in Western countries, half of the reported cases have clinical and cellular photosensitivity associated with mutations in three subunits of the general transcription factor IIH complex, which is involved in transcription and nucleotide excision repair. Six patients with GTF2H5 mutations have been reported; this is the first report in Argentina. The patient was diagnosed at 3 years of age by "tiger tail banding" on polarized light microscopy, and at 9 years of age, it was confirmed by molecular biology. She presented growth retardation with more severe stunting and underweight than reported. Given the low prevalence and high clinical heterogeneity, a high index of suspicion is required for early diagnosis, interdisciplinary management, and genetic counseling.
{"title":"Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.","authors":"Jimena Dri, Eugenia Dos Santos, Adriana Fernández, Florencia Galdeano, María J Guillamondegui, Cristina Gatica","doi":"10.5546/aap.2024-10522.eng","DOIUrl":"10.5546/aap.2024-10522.eng","url":null,"abstract":"<p><p>Trichothiodystrophy is a rare neuroectodermal defect characterized by sparse and brittle hair, photosensitivity, intellectual disability, and short stature. With an incidence of 1.2 per million in Western countries, half of the reported cases have clinical and cellular photosensitivity associated with mutations in three subunits of the general transcription factor IIH complex, which is involved in transcription and nucleotide excision repair. Six patients with GTF2H5 mutations have been reported; this is the first report in Argentina. The patient was diagnosed at 3 years of age by \"tiger tail banding\" on polarized light microscopy, and at 9 years of age, it was confirmed by molecular biology. She presented growth retardation with more severe stunting and underweight than reported. Given the low prevalence and high clinical heterogeneity, a high index of suspicion is required for early diagnosis, interdisciplinary management, and genetic counseling.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410522"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}