A unique case of multicentric infantile myofibromatosis with radiologic-pathologic correlation

Pušnik, Luka (author), Šekoranja, Daja (author), Plut, Domen (author)

Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as one or more benign nodules of the skin, bones, soft tissues, or, rarely, visceral organs. According to the location and number of lesions, there are three different forms: solitary, multicentric without visceral involvement, and multicentric with visceral involvement (generalised), with the latter having the least favourable prognosis. We present a unique case of severe congenital generalised IM in a new-born male who required intubation and mechanical ventilation immediately after the birth due to respiratory distress. A chest radiograph showed numerous tumours involving the entire lung, resembling a metastatic lung disease. Additionally, the neonate had multiple, bluish, papular skin nodules and a biopsy of a skin nodule ultimately led to the diagnosis of IM. Diffuse lung involvement prevented adequate ventilation which resulted in multiorgan failure and death before targeted treatment could have been initiated. The presented case is unique, as such atypical extensive involvement of the lung and leptomeninges in IM has not been reported before. In this brief report, we present the findings of radiographic and ultrasonographic examinations in correlation with autopsy and histopathology.

• Language: English
• Keywords: myofibromatosis, neonate, lung, ultrasonography, X-ray, immunohistochemistry
• Work type: Article
• Typology: 1.03 - Other scientific articles
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2022
• Number of pages: 6 str.
• Numbering: Vol. 9, iss. 1, art. 53
• PID: 20.500.12556/RUL-136753
• UDC: 616-053.2
• ISSN on article: 2227-9067
• DOI: 10.3390/children9010053
• COBISS.SI-ID: 93847299
• Publication date in RUL: 19.05.2022

Record is a part of a journal

• Title: Children
• Shortened title: Children
• Publisher: MDPI
• ISSN: 2227-9067
• COBISS.SI-ID: 523029017

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 03.01.2022

Secondary language

• Language: Slovenian
• Keywords: miofibromatoza, novorojenčki, pljuča, ultrasonografija, X-žarki, imunohistokemija