Callaghan Lauren T, Lafreniere Anthea, Onwuka Ekene A, Beckman Ross M, Foster Jennifer H, Quintanilla Norma, Guillory Charleta, Lee Timothy C, Cheng Lily S
Baylor College of Medicine, Houston, TX, United States.
Texas Children's Hospital, Houston, TX, United States.
Front Pediatr. 2022 Aug 26;10:952023. doi: 10.3389/fped.2022.952023. eCollection 2022.
Spontaneous intestinal perforations in the neonatal population are mostly associated with low birth weight, prematurity, and necrotizing enterocolitis. Spontaneous intestinal perforation in the absence of these risk factors is extremely rare and should raise clinical concern for an underlying bowel pathology. Here we present a unique case of a normal-weight, full-term girl with spontaneous intestinal perforation due to a spindle cell neoplasm with a novel mutation and infantile fibrosarcoma-like morphology. Though rare, malignancy should be considered in the differential diagnosis for bowel perforation in an otherwise healthy, term infant as complete surgical excision can be curative.
新生儿自发性肠穿孔大多与低出生体重、早产和坏死性小肠结肠炎有关。在没有这些危险因素的情况下发生自发性肠穿孔极为罕见,应引起临床对潜在肠道病变的关注。在此,我们报告一例独特病例,一名体重正常、足月的女孩因一种具有新突变和婴儿纤维肉瘤样形态的梭形细胞瘤发生自发性肠穿孔。尽管罕见,但对于健康足月婴儿的肠穿孔鉴别诊断应考虑恶性肿瘤,因为完整的手术切除可能治愈。