Pelvico-Abdominal Plexiform Neurofibromatosis: Radiologic Clues to an Exceptional Presentation
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Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with a prevalence of approximately 1 in 4,000–5,000 individuals worldwide. Plexiform neurofibroma, a less common but clinically significant subtype, occurs almost exclusively in NF1 patients and carries a lifetime risk of malignant transformation to malignant peripheral nerve sheath tumors (MPNSTs) of approximately 4.6%–13%. Pelvico-abdominal plexiform neurofibromas are exceptionally rare, with fewer than 60 cases reported in the literature. This study aims to describe a unique case of pelvico-abdominalplexiform neurofibromatosis in an adolescent female and to highlight the essential role of multimodality imaging—including ultrasound, CT, and MRI—in establishing the diagnosis, assessing anatomical involvement, detecting complications, and guiding clinical management. This is a case report of a 14-year-old female patient presenting with progressive abdominal enlargement over three years. Diagnostic evaluation included plain abdominal radiography, abdominal ultrasound, contrast-enhanced CT, MRI with gadolinium, and histopathological examination of a retroperitoneal biopsy. Imaging revealed a large, heterogeneous solid mass extending from the pelvic cavity to the abdominal cavity. Ultrasound demonstrated the characteristic “target sign” appearance, with hyperechoic centers and hypoechoic peripheries, appearing hypovascular on Doppler imaging. CT showed a low-attenuation heterogeneous mass displacing adjacent organs (rectum, colon, uterus, and bladder) and encasing major vessels (abdominal aorta, iliac arteries, and inferior mesenteric artery) without evidence of invasion. MRI confirmed a confluent, multinodular mass with multiple target signs on T2-weighted images and central enhancement on contrast-enhanced T1-weighted Dixon sequences. Histopathology confirmed plexiform neurofibroma with no mitotic activity.
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