Vitale Rossella, Capozza Manuela, Filannino Antonia, Quercia Michele, Novielli Chiara, Calderoni Grazia, De Leonardis Francesco, Santoro Nicola, Martino Stefania, Resta Nicoletta, Laforgia Nicola
Department of Interdisciplinary Medicine, Neonatology and NICU, University of Bari "Aldo Moro", Bari, 70124, Italy.
Pediatric Oncology AOUC of Policlinico of Bari, Bari, 70124, Italy.
Ital J Pediatr. 2025 Jul 8;51(1):215. doi: 10.1186/s13052-025-02055-y.
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.
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.
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.
婴儿肌纤维瘤病是一种罕见的软组织肿瘤，可在出生时或婴儿早期出现，是婴儿期和幼儿期最常见的纤维性肿瘤。由于临床表现各异，诊断可能具有挑战性。产前很少能检测到病例，内脏受累极为罕见。
我们报告一例播散性婴儿肌纤维瘤病，其产前超声检查具有挑战性且临床表现具有误导性。诊断非常困难，出生后获得的病理结果证实了诊断。
内脏受累是一个特定的不良预后因素，但密切观察等待的方法总是合适的，因为自发消退和良好的转归是可能的，且与年龄相关的化疗严重副作用和长期后遗症令人担忧。
