{"title":"新生儿多中心婴儿肌纤维瘤病伴广泛内脏受累1例报告。","authors":"Rossella Vitale, Manuela Capozza, Antonia Filannino, Michele Quercia, Chiara Novielli, Grazia Calderoni, Francesco De Leonardis, Nicola Santoro, Stefania Martino, Nicoletta Resta, Nicola Laforgia","doi":"10.1186/s13052-025-02055-y","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Infantile myofibromatosis, a rare soft tissue neoplasm that may present at birth or in early infancy, is the most common fibrous tumor of infancy and early childhood. Diagnosis could be challenging due to different clinical presentation. Very few cases are detected prenatally and visceral involvement is extremely rare.</p><p><strong>Case presentation: </strong>We present a case of Disseminated Infantile Myofibromatosis with challenging prenatal ultrasound and misleading clinical presentation. Diagnosis was very difficult and confirmed by pathology results obtained after birth.</p><p><strong>Conclusions: </strong>Visceral involvement constitutes a specific unfavorable prognostic factor but a watchful waiting approach would always be appropriate, since spontaneous regression and a favourable evolution are possible and age-related chemotherapy severe side effects and long-term sequelae are matter of concern.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"215"},"PeriodicalIF":3.2000,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239384/pdf/","citationCount":"0","resultStr":"{\"title\":\"Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.\",\"authors\":\"Rossella Vitale, Manuela Capozza, Antonia Filannino, Michele Quercia, Chiara Novielli, Grazia Calderoni, Francesco De Leonardis, Nicola Santoro, Stefania Martino, Nicoletta Resta, Nicola Laforgia\",\"doi\":\"10.1186/s13052-025-02055-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Infantile myofibromatosis, a rare soft tissue neoplasm that may present at birth or in early infancy, is the most common fibrous tumor of infancy and early childhood. Diagnosis could be challenging due to different clinical presentation. Very few cases are detected prenatally and visceral involvement is extremely rare.</p><p><strong>Case presentation: </strong>We present a case of Disseminated Infantile Myofibromatosis with challenging prenatal ultrasound and misleading clinical presentation. Diagnosis was very difficult and confirmed by pathology results obtained after birth.</p><p><strong>Conclusions: </strong>Visceral involvement constitutes a specific unfavorable prognostic factor but a watchful waiting approach would always be appropriate, since spontaneous regression and a favourable evolution are possible and age-related chemotherapy severe side effects and long-term sequelae are matter of concern.</p>\",\"PeriodicalId\":14511,\"journal\":{\"name\":\"Italian Journal of Pediatrics\",\"volume\":\"51 1\",\"pages\":\"215\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-07-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239384/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Italian Journal of Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13052-025-02055-y\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Italian Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13052-025-02055-y","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.
Background: Infantile myofibromatosis, a rare soft tissue neoplasm that may present at birth or in early infancy, is the most common fibrous tumor of infancy and early childhood. Diagnosis could be challenging due to different clinical presentation. Very few cases are detected prenatally and visceral involvement is extremely rare.
Case presentation: We present a case of Disseminated Infantile Myofibromatosis with challenging prenatal ultrasound and misleading clinical presentation. Diagnosis was very difficult and confirmed by pathology results obtained after birth.
Conclusions: Visceral involvement constitutes a specific unfavorable prognostic factor but a watchful waiting approach would always be appropriate, since spontaneous regression and a favourable evolution are possible and age-related chemotherapy severe side effects and long-term sequelae are matter of concern.
期刊介绍:
Italian Journal of Pediatrics is an open access peer-reviewed journal that includes all aspects of pediatric medicine. The journal also covers health service and public health research that addresses primary care issues.
The journal provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field.
Italian Journal of Pediatrics, which commenced in 1975 as Rivista Italiana di Pediatria, provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field.