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Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report
Rossella Vitale1, Manuela Capozza2, Antonia Filannino1
1Department of Interdisciplinary Medicine, Neonatology and NICU, University of Bari "Aldo Moro", Bari, 70124, Italy.
Insights
Disseminated infantile myofibromatosis is a rare tumor that can be difficult to diagnose prenatally and after birth. Despite potential challenges, spontaneous regression is possible, making watchful waiting a viable approach.
Area of Science:
- Pediatric Oncology
- Dermatopathology
- Medical Genetics
Background:
- Infantile myofibromatosis is the most common fibrous tumor in infants.
- It presents as a rare soft tissue neoplasm, often at birth or in early infancy.
- Diagnosis can be challenging due to varied clinical presentations and rarity of prenatal detection.
Observation:
- A case of disseminated infantile myofibromatosis with difficult prenatal ultrasound findings is presented.
- The infant exhibited a misleading clinical presentation post-birth.
- Pathology results confirmed the diagnosis after birth.
Findings:
- Visceral involvement in infantile myofibromatosis is a rare but significant indicator of a poor prognosis.
- The case highlights diagnostic challenges, particularly with prenatal imaging and initial clinical signs.
- Confirmation of diagnosis relied on post-natal pathological examination.
Implications:
- A watchful waiting approach is often appropriate due to the potential for spontaneous regression.
- Concerns exist regarding severe side effects and long-term sequelae of age-related chemotherapy.
- Early and accurate diagnosis, though challenging, is crucial for appropriate management of infantile myofibromatosis.
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.
