Prenatal sonography of multicentric infantile myofibromatosis: Case report and review of the literature

Abstract

Scant literature exists on prenatally diagnosed infantile myofibromatosis (IM). We report a case of multicentric IM, which was first recognized as a soft‐tissue paraspinal mass on prenatal sonography and subsequently characterized by MRI with pathological confirmation.

Prenatally Diagnosed Infantile Myofibroma of Sartorius Muscle—A Differential for Soft Tissue Masses in Early Infancy

“…The prenatal imaging findings are not pathognomonic, but MRI is superior in differentiating fibrosarcoma. Generally, IM was reported in the literature as having prenatal diagnosis with visceral involvement, in which case, if the lesions were multiple and involved important viscera, pregnancy termination could be an option [ 14 , 15 , 16 , 17 , 18 , 19 ]. Our case was recognized as a soft tissue tumor relatively early in the pregnancy and well described as a unique tumor, with a less frequent localization of IM.…”

Prenatal imaging patterns of different forms of infantile myofibromatosis

“…IM can be divided into solitary (SFIM) or multicentric (MFIM) forms, with (disseminated form (DFIM)) or without visceral involvement 1 . Few cases have been diagnosed prenatally 2 . Here, we report two cases of prenatal diagnosis of IM, including one of SFIM and one of MFIM; to date, prenatal diagnosis of the latter has not been reported previously.…”

“…Indeed, such prenatal diagnosis should always be confirmed after birth by careful clinical examination, and often by biopsy, as well as by whole-body MRI, since some lesions may be overlooked prenatally or may develop after birth. Both Meizner et al 3 and, more recently, Rekawek et al 2 published prenatal cases of SFIM which were ultimately found to be MFIM on pathological examination and after birth, respectively. Regarding the imaging pattern for IM, the lesions range from a solid, hypo-or moderately echogenic, homogeneous or slightly heterogeneous lesion, with constant clear demarcation, which represents the main pattern of SFIM 1,4 , to a lesion with an anechoic center and a solid peripheral component, which is the most frequent pattern of MFIM, as discussed below 2,4 .…”

“…An important feature is absence of or poor vascularity of the lesion on Doppler analysis 4 , as the main differential diagnosis for a solid prenatal soft-tissue lesion is rapidly involuting congenital hemangioma, which is highly hypervascularized 2,4 . The other differential diagnosis is congenital fibrosarcoma, which can also be solid and well-defined, but is more frequently heterogeneous, particularly on T2-weighted MRI, with variable vascularization, involving more frequently the extremities, and characterized by large volume and rapid growth 4 .…”

Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth

“…A diagnosis of IM is confirmed with biopsy of a suspicious clinical lesion or lesion identified on prenatal sonography. 10 been reported, 7 initiation of systemic treatment is recommended due to high mortality rates. Successful treatment has been reported with methotrexate and vincristine/vinblastine.…”