Pub Date : 2025-04-01DOI: 10.1016/j.spen.2025.101184
Sara Velasquez Restrepo , Zoltan Antal
Pediatric CNS tumors may be associated with endocrinopathies at the time of initial diagnosis and as a sequalae of their treatment. Endocrine dysfunction is highly prevalent among tumors located along the hypothalamic pituitary axis and optic pathway, with manifestations such as precocious puberty, diabetes insipidus, or growth failure presenting initially without neurologic symptoms. Posterior fossa tumors, which are more common in pediatrics, can also present with endocrine dysfunction despite their relatively more distant location due to their propensity for causing hydrocephalus. The various treatment modalities for CNS tumors portend additional risks for developing endocrinopathies. Acute endocrine dysfunction often follows surgery involving the HP axis, while endocrine late effects, particularly following radiation exposure of the HP axis, can develop more insidiously years to decades after completion of treatment. Chemotherapy and newer targeted and immunotherapies can cause peripheral endocrine gland as well as HP axis dysfunction. With an increasing number of childhood cancer survivors in the population, recognition and treatment of endocrine late effects is increasingly important. We review here the common endocrine dysfunction associated with various CNS tumors at diagnosis and as a consequence of their treatment.
{"title":"Endocrine manifestations of pediatric CNS tumors at diagnosis and as sequalae of treatment","authors":"Sara Velasquez Restrepo , Zoltan Antal","doi":"10.1016/j.spen.2025.101184","DOIUrl":"10.1016/j.spen.2025.101184","url":null,"abstract":"<div><div>Pediatric CNS tumors may be associated with endocrinopathies at the time of initial diagnosis and as a sequalae of their treatment. Endocrine dysfunction is highly prevalent among tumors located along the hypothalamic pituitary axis and optic pathway, with manifestations such as precocious puberty, diabetes insipidus, or growth failure presenting initially without neurologic symptoms. Posterior fossa tumors, which are more common in pediatrics, can also present with endocrine dysfunction despite their relatively more distant location due to their propensity for causing hydrocephalus. The various treatment modalities for CNS tumors portend additional risks for developing endocrinopathies. Acute endocrine dysfunction often follows surgery involving the HP axis, while endocrine late effects, particularly following radiation exposure of the HP axis, can develop more insidiously years to decades after completion of treatment. Chemotherapy and newer targeted and immunotherapies can cause peripheral endocrine gland as well as HP axis dysfunction. With an increasing number of childhood cancer survivors in the population, recognition and treatment of endocrine late effects is increasingly important. We review here the common endocrine dysfunction associated with various CNS tumors at diagnosis and as a consequence of their treatment.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101184"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808348","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 : 2025-04-01DOI: 10.1016/j.spen.2025.101180
Karen L. Long Traynor , Jennifer J. Boughton , Karishma M. Parikh
Pediatric brain tumor survivors (PBTS) face social, emotional, and cognitive challenges that significantly impact their quality of life. While survival rates have improved due to advances in medical treatments, PBTS are often at a heightened risk for social isolation and difficulties forming and maintaining peer relationships. In this review, we synthesize existing research on the social and cognitive struggles faced by PBTS and the challenges they face forming meaningful, reciprocal friendships. PBTS often have cognitive deficits that hinder their ability to recognize social cues and are at risk of bullying and teasing from peers, which can lead to further social isolation. The role of family support is critical, with strong family bonds serving as an essential protective factor. Social skills interventions have shown promise, yet further research is needed to understand how these interventions can effectively increase the social performance of PBTS with their peers.
{"title":"Social challenges and isolation in pediatric brain tumor survivors: A comprehensive review of psychosocial and cognitive factors","authors":"Karen L. Long Traynor , Jennifer J. Boughton , Karishma M. Parikh","doi":"10.1016/j.spen.2025.101180","DOIUrl":"10.1016/j.spen.2025.101180","url":null,"abstract":"<div><div>Pediatric brain tumor survivors (PBTS) face social, emotional, and cognitive challenges that significantly impact their quality of life. While survival rates have improved due to advances in medical treatments, PBTS are often at a heightened risk for social isolation and difficulties forming and maintaining peer relationships. In this review, we synthesize existing research on the social and cognitive struggles faced by PBTS and the challenges they face forming meaningful, reciprocal friendships. PBTS often have cognitive deficits that hinder their ability to recognize social cues and are at risk of bullying and teasing from peers, which can lead to further social isolation. The role of family support is critical, with strong family bonds serving as an essential protective factor. Social skills interventions have shown promise, yet further research is needed to understand how these interventions can effectively increase the social performance of PBTS with their peers.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101180"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808350","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 : 2025-04-01DOI: 10.1016/j.spen.2025.101186
Karishma Parikh , Sameer Farouk Sait
Central nervous system (CNS) tumors represent the most common solid tumors occurring in children, with gliomas, medulloblastomas and ependymomas being the most frequently diagnosed. The most recent 2021 World Health Organization (WHO) Classification of Tumors of the CNS (CNS5) has integrated molecular genetics with traditional histopathology leading to more accurate diagnosis and risk stratification/prognostication with subsequent development of personalized treatment paradigms. Pediatric gliomas are traditionally subdivided into low-grade (pLGG) or high-grade gliomas (pHGG). pLGG tend to have excellent overall survival, however, the disease course maybe characterized by multiple recurrences resulting in significant morbidity. Surgical resection is standard with medical therapy (chemotherapy or oral molecular targeted therapy) reserved in the event of radiographic/symptomatic progression. pHGG have poor overall survival despite intensive multimodality therapy. Ependymomas occur in the infratentorial and supratentorial brain as well as in the spine, with the standard treatment including maximal safe resection with involved field radiation therapy that is curative in two-thirds of patients overall. Medulloblastomas are the most common malignant embryonal CNS tumor arising in the cerebellum and are biologically heterogeneous. Given the risk of CSF dissemination, medulloblastomas require surgery, craniospinal radiation as well as multi agent chemotherapy, an approach that is curative in the majority of patients with non-metastatic disease. The field of pediatric neuro-oncology has made robust strides in the past few decades and the role of molecular diagnostics has continued to improve our understanding of pediatric tumor biology and offer more personalized treatment paradigms.
{"title":"Pediatric CNS tumors: Overview and treatment paradigms","authors":"Karishma Parikh , Sameer Farouk Sait","doi":"10.1016/j.spen.2025.101186","DOIUrl":"10.1016/j.spen.2025.101186","url":null,"abstract":"<div><div>Central nervous system (CNS) tumors represent the most common solid tumors occurring in children, with gliomas, medulloblastomas and ependymomas being the most frequently diagnosed. The most recent 2021 World Health Organization (WHO) Classification of Tumors of the CNS (CNS5) has integrated molecular genetics with traditional histopathology leading to more accurate diagnosis and risk stratification/prognostication with subsequent development of personalized treatment paradigms. Pediatric gliomas are traditionally subdivided into low-grade (pLGG) or high-grade gliomas (pHGG). pLGG tend to have excellent overall survival, however, the disease course maybe characterized by multiple recurrences resulting in significant morbidity. Surgical resection is standard with medical therapy (chemotherapy or oral molecular targeted therapy) reserved in the event of radiographic/symptomatic progression. pHGG have poor overall survival despite intensive multimodality therapy. Ependymomas occur in the infratentorial and supratentorial brain as well as in the spine, with the standard treatment including maximal safe resection with involved field radiation therapy that is curative in two-thirds of patients overall. Medulloblastomas are the most common malignant embryonal CNS tumor arising in the cerebellum and are biologically heterogeneous. Given the risk of CSF dissemination, medulloblastomas require surgery, craniospinal radiation as well as multi agent chemotherapy, an approach that is curative in the majority of patients with non-metastatic disease. The field of pediatric neuro-oncology has made robust strides in the past few decades and the role of molecular diagnostics has continued to improve our understanding of pediatric tumor biology and offer more personalized treatment paradigms.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101186"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808412","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 : 2025-04-01DOI: 10.1016/j.spen.2025.101181
Ritesh Kumar, Lakshmi Rekha Narra, Zohaib Sherwani, Rahul R Parikh
Radiation therapy plays a pivotal role in treating pediatric central nervous system (CNS) tumors. However, its potential long-term impact on neurological function poses significant challenges. In this review, we examine the scope of neurological sequelae in survivors of pediatric CNS tumors, with a focus on clinical manifestations, evaluation methods, and management strategies. Key areas discussed include neurocognitive deficits, endocrine dysfunctions, cerebrovascular complications, and secondary malignancies. Emphasis is placed on mitigating radiation-induced toxicity through advanced radiotherapy techniques and integrated survivorship care.
{"title":"Neurological sequalae in pediatric patients with CNS tumors after radiation treatment: A comprehensive review","authors":"Ritesh Kumar, Lakshmi Rekha Narra, Zohaib Sherwani, Rahul R Parikh","doi":"10.1016/j.spen.2025.101181","DOIUrl":"10.1016/j.spen.2025.101181","url":null,"abstract":"<div><div>Radiation therapy plays a pivotal role in treating pediatric central nervous system (CNS) tumors. However, its potential long-term impact on neurological function poses significant challenges. In this review, we examine the scope of neurological sequelae in survivors of pediatric CNS tumors, with a focus on clinical manifestations, evaluation methods, and management strategies. Key areas discussed include neurocognitive deficits, endocrine dysfunctions, cerebrovascular complications, and secondary malignancies. Emphasis is placed on mitigating radiation-induced toxicity through advanced radiotherapy techniques and integrated survivorship care.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101181"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808349","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 : 2025-04-01DOI: 10.1016/j.spen.2025.101188
Angela M Curcio
Seizures associated with low-grade tumors in pediatric patients can be drug resistant and associated with significant morbidity. There are several low-grade tumor types associated with epilepsy in this population with the majority localized to the temporal lobe and some extra-temporal locations (frontal, parietal, and occipital lobes). The primary treatment of low-grade epilepsy-associated tumors is surgical resection, though the surgical approach and the use of intraoperative techniques remain controversial. Newer treatments are under investigation as primary and/or adjunctive therapy, including non-invasive surgical options and gene-targeted therapy. A multimodal approach to treatment may improve long-term outcomes and quality of life.
{"title":"Low-grade epilepsy-associated tumors in pediatric patients: A focused review of the tumor differential and current treatment options","authors":"Angela M Curcio","doi":"10.1016/j.spen.2025.101188","DOIUrl":"10.1016/j.spen.2025.101188","url":null,"abstract":"<div><div>Seizures associated with low-grade tumors in pediatric patients can be drug resistant and associated with significant morbidity. There are several low-grade tumor types associated with epilepsy in this population with the majority localized to the temporal lobe and some extra-temporal locations (frontal, parietal, and occipital lobes). The primary treatment of low-grade epilepsy-associated tumors is surgical resection, though the surgical approach and the use of intraoperative techniques remain controversial. Newer treatments are under investigation as primary and/or adjunctive therapy, including non-invasive surgical options and gene-targeted therapy. A multimodal approach to treatment may improve long-term outcomes and quality of life.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101188"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808415","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}
Cancer immunotherapy is becoming increasingly personalized, and autologous therapeutic vaccines (ATVs) represent a promising strategy by leveraging patient-derived tumor antigens. Two main types, whole-tissue autologous therapeutic vaccines (WATVs) and autologous dendritic cell vaccines (ADCVs), have demonstrated safety and efficacy in adult oncology. However, their application in pediatric neuro-oncology remains underexplored.
Objective
To review recent clinical advancements in the use of WATVs and ADCVs for pediatric brain tumors, focusing on safety, feasibility, and preliminary outcomes.
Methods
A systematic search of studies (2004–2025) was conducted using PubMed, Scopus, EMBASE, Cochrane, and clinical trial registries. Inclusion criteria were pediatric brain tumor studies involving WATVs or ADCVs. Studies were assessed per PRISMA guidelines, biases were addressed and outcome data were synthesized narratively using pooled patient data.
Results
WATVs had no dedicated pediatric brain tumor studies. However, a subgroup analysis in a mixed ADCV-WATV trial for pediatric brain tumors (n = 26) was performed showing safety and feasibility. For ADCVs, seven clinical trials with (n = 85) met inclusion criteria. ADCVs demonstrated a strong safety profile, with no treatment-related deaths and only one severe adverse event. Progression-free survival ranged from 1.4 to 85.6 months, and overall survival ranged from 1.4 to 143 months. Factors improving outcomes included gross total resection and newly diagnosed high-grade gliomas. Production time for vaccines posed a feasibility challenge.
Conclusion
WATVs and ADCVs are safe but underutilized in pediatric neuro-oncology. ADCVs, in particular, have shown potential for high-grade gliomas and atypical teratoid rhabdoid tumors. Future studies should optimize vaccine production timelines and evaluate the efficacy of various antigenic materials. Phase III trials are needed to establish clinical benefit.
{"title":"Whole-tissue and autologous dendritic cell vaccines in pediatric brain tumors: A focused review of current evidence and future directions","authors":"Garrett Gianneschi , Rohan Hublikar , Jason Sherman , Harini Rao","doi":"10.1016/j.spen.2025.101183","DOIUrl":"10.1016/j.spen.2025.101183","url":null,"abstract":"<div><h3>Introduction</h3><div>Cancer immunotherapy is becoming increasingly personalized, and autologous therapeutic vaccines (ATVs) represent a promising strategy by leveraging patient-derived tumor antigens. Two main types, whole-tissue autologous therapeutic vaccines (WATVs) and autologous dendritic cell vaccines (ADCVs), have demonstrated safety and efficacy in adult oncology. However, their application in pediatric neuro-oncology remains underexplored.</div></div><div><h3>Objective</h3><div>To review recent clinical advancements in the use of WATVs and ADCVs for pediatric brain tumors, focusing on safety, feasibility, and preliminary outcomes.</div></div><div><h3>Methods</h3><div>A systematic search of studies (2004–2025) was conducted using PubMed, Scopus, EMBASE, Cochrane, and clinical trial registries. Inclusion criteria were pediatric brain tumor studies involving WATVs or ADCVs. Studies were assessed per PRISMA guidelines, biases were addressed and outcome data were synthesized narratively using pooled patient data.</div></div><div><h3>Results</h3><div>WATVs had no dedicated pediatric brain tumor studies. However, a subgroup analysis in a mixed ADCV-WATV trial for pediatric brain tumors (<em>n</em> = 26) was performed showing safety and feasibility. For ADCVs, seven clinical trials with (<em>n</em> = 85) met inclusion criteria. ADCVs demonstrated a strong safety profile, with no treatment-related deaths and only one severe adverse event. Progression-free survival ranged from 1.4 to 85.6 months, and overall survival ranged from 1.4 to 143 months. Factors improving outcomes included gross total resection and newly diagnosed high-grade gliomas. Production time for vaccines posed a feasibility challenge.</div></div><div><h3>Conclusion</h3><div>WATVs and ADCVs are safe but underutilized in pediatric neuro-oncology. ADCVs, in particular, have shown potential for high-grade gliomas and atypical teratoid rhabdoid tumors. Future studies should optimize vaccine production timelines and evaluate the efficacy of various antigenic materials. Phase III trials are needed to establish clinical benefit.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101183"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808351","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 : 2025-04-01DOI: 10.1016/j.spen.2025.101185
Zuhal Ergonul , Amelia Stone
Headache is one of the most common neurologic disorders in children with a prevalence between 57-82 %. Affecting only 2.5 per 100,000 persons of the pediatric population, brain tumors in children is less common, but frequently present with headache. However, headache rarely presents as the sole neurologic symptom of a brain tumor in children. According to the International Classification of Headache Disorders Third Edition (ICHD-3), a headache may be attributed to a brain tumor if it is in close temporal relation with the tumor, worsens in parallel with the tumor, and/or improves after the successful treatment of the tumor. Brain tumor headaches are traditionally thought to display specific characteristics, including severe pain intensity, morning occurrence and association with nausea or vomiting. There are no formal criteria for headache attributed to brain tumor in children in ICHD-3. In this review we provide an overview of the ICHD-3 criteria and clinical presentation, and management of headaches attributed to brain tumors in children.
{"title":"Pediatric headache attributed to brain tumor","authors":"Zuhal Ergonul , Amelia Stone","doi":"10.1016/j.spen.2025.101185","DOIUrl":"10.1016/j.spen.2025.101185","url":null,"abstract":"<div><div>Headache is one of the most common neurologic disorders in children with a prevalence between 57-82 %. Affecting only 2.5 per 100,000 persons of the pediatric population, brain tumors in children is less common, but frequently present with headache. However, headache rarely presents as the sole neurologic symptom of a brain tumor in children. According to the International Classification of Headache Disorders Third Edition (ICHD-3), a headache may be attributed to a brain tumor if it is in close temporal relation with the tumor, worsens in parallel with the tumor, and/or improves after the successful treatment of the tumor. Brain tumor headaches are traditionally thought to display specific characteristics, including severe pain intensity, morning occurrence and association with nausea or vomiting. There are no formal criteria for headache attributed to brain tumor in children in ICHD-3. In this review we provide an overview of the ICHD-3 criteria and clinical presentation, and management of headaches attributed to brain tumors in children.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"53 ","pages":"Article 101185"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808413","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 : 2024-12-01DOI: 10.1016/j.spen.2024.101169
John Collyer, Deepa S Rajan
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous manifestations, this multisystemic disorder also has important immunologic, oncologic, respiratory, and endocrinologic implications. This article will review the function of the ATM gene, the neurologic manifestations of AT, non-neurologic complications, mimickers of AT (including other disorders of defective DNA repair), and the realm of therapeutic research for AT.
{"title":"Ataxia telangiectasia","authors":"John Collyer, Deepa S Rajan","doi":"10.1016/j.spen.2024.101169","DOIUrl":"10.1016/j.spen.2024.101169","url":null,"abstract":"<div><div>Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (<em>ATM</em>) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous manifestations, this multisystemic disorder also has important immunologic, oncologic, respiratory, and endocrinologic implications. This article will review the function of the <em>ATM</em> gene, the neurologic manifestations of AT, non-neurologic complications, mimickers of AT (including other disorders of defective DNA repair), and the realm of therapeutic research for AT.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"52 ","pages":"Article 101169"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142757689","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}
Pub Date : 2024-12-01DOI: 10.1016/j.spen.2024.101172
Manikum Moodley, Karla Robles Lopez
Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies. It has complete penetrance but highly variable disease manifestations. Certain features including café-au-lait macules, bony abnormalities, and optic pathway gliomas emerge by early childhood, but others appear later in life. A cure for NF1 has not been found, however emerging treatments have involved modulation of the RAS/MAPK signaling pathway.
{"title":"Neurofibromatosis type 1 - an update","authors":"Manikum Moodley, Karla Robles Lopez","doi":"10.1016/j.spen.2024.101172","DOIUrl":"10.1016/j.spen.2024.101172","url":null,"abstract":"<div><div>Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur <em>de novo</em>. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies. It has complete penetrance but highly variable disease manifestations. Certain features including café-au-lait macules, bony abnormalities, and optic pathway gliomas emerge by early childhood, but others appear later in life. A cure for NF1 has not been found, however emerging treatments have involved modulation of the RAS/MAPK signaling pathway.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"52 ","pages":"Article 101172"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142757763","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}
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